EB-PRS#
In this notebook, we used EBPRS to calculate the PRS. Refer to the EBPRS Documentation for more details.
The data is passed to EBPRS, which calculates the new betas. These new betas are then used with Plink to calculate the PRS. Although EBPRS is designed for binary phenotypes, we also used it for continuous phenotypes.
To install EBPRS, use:
install.packages("EBPRS")
For Binary Phenotype#
train: Training dataset, which is the GWAS file.
test: Testing dataset (list) including
.fam
,.bed
,.bim
files, which can be generated using theread_plink
function in the package. Ifmissing(test) = TRUE
, the function will use all SNPs in the training dataset by default.N1: Number of cases.
N0: Number of controls.
robust:
TRUE
/FALSE
, an indicator of whether robust estimation is needed. The function will run faster whenrobust
is set toFALSE
. The default isTRUE
.
Important Note:
The documentation does not specify whether the number of cases and controls should be for the genotype data or the GWAS. You can test both options in the code and observe any changes in performance.
Example code:
result2 <- EBPRS(train = train, test = test, N1 = 364, N0 = 2063)
For Continuous Phenotype#
We considered the number of cases and controls to be the same.
For binary phenotypes, specify the number of cases and controls in the EBPRS.R
file, or you can specify them directly in the code. It is important to note that this tool is primarily created for binary phenotypes.
cases = 100
controls = 100
Note: We used pseudo values for the number of cases and controls, but one should use the actual values corresponding to the GWAS file generated.
EBPRS.R File#
args <- commandArgs(trailingOnly = TRUE)
print(args)
# Argument Descriptions:
# 1. Argument one is the directory. Example: `SampleData1`
# 2. Argument two is the file name. Example: `SampleData1\\Fold_0`
# 3. Argument three is the output file name. Example: `train_data`
# 4. Argument four is the specific function to be called. Example: `train_data.QC.clumped.pruned`
# 5. Argument five is the GWAS file. Example: `EBPRSGWAS.txt`
# 6. Argument six is the number of cases.
# 7. Argument seven is the number of controls.
# Example arguments: args <- c("SampleData1", "SampleData1\\Fold_0", "train_data", "train_data.QC.clumped.pruned", "EBPRSGWAS.txt")
library("EBPRS")
result <- paste(".", args[1], args[5], sep = "//")
train <- fread(result)
#N1 <-20791
#N0 <- 323124
result <- paste(".", args[2], args[4], sep = "//")
test <- read_plink(result)
result2 <- EBPRS(train = train, test = test, N1 = as.integer(args[6]), N0 = as.integer(args[7]))
result <- paste(".", args[2], "newEBPRS.txt", sep = "//")
write.table(result2$result, file = result, row.names = FALSE, sep = "\t", quote = FALSE)
GWAS Processing for EBPRS#
For EBPRS, we converted both BETAS and Odds Ratios (OR) to OR. Even for continuous phenotypes, we converted BETA to OR.
import os
import pandas as pd
import numpy as np
import os
import pandas as pd
import numpy as np
def check_phenotype_is_binary_or_continous(filedirec):
# Read the processed quality controlled file for a phenotype
df = pd.read_csv(filedirec+os.sep+filedirec+'_QC.fam',sep="\s+",header=None)
column_values = df[5].unique()
if len(set(column_values)) == 2:
return "Binary"
else:
return "Continous"
#filedirec = sys.argv[1]
filedirec = "SampleData1"
#filedirec = "migraine"
#filedirec = "asthma_19"
#filedirec = "migraine_0"
# Read the GWAS file.
GWAS = filedirec + os.sep + filedirec+".gz"
df = pd.read_csv(GWAS,compression= "gzip",sep="\s+")
if "BETA" in df.columns.to_list():
df["OR"] = np.exp(df["BETA"])
# For Continous Phenotype.
df = df[['CHR', 'BP', 'SNP', 'A1', 'A2', 'N', 'SE', 'P', 'OR', 'INFO', 'MAF']]
else:
df = df[['CHR', 'BP', 'SNP', 'A1', 'A2', 'N', 'SE', 'P', 'OR', 'INFO', 'MAF']]
df = df[["A1","A2","OR","P","SNP"]]
# Save the transformed dataframe to a new pandas file
output_file = filedirec+os.sep+"EBPRSGWAS.txt"
# EBPRSGWAS GWAS input file does not have header. based on the provided sample data.
df.to_csv(output_file,sep="\t",index=False,)
print(df.head())
A1 A2 OR P SNP
0 A G 0.997887 0.483171 rs3131962
1 A G 1.000687 0.834808 rs12562034
2 G A 0.997604 0.428970 rs4040617
3 G T 1.002036 0.808999 rs79373928
4 G A 1.001308 0.590265 rs11240779
Define Hyperparameters#
Define hyperparameters to be optimized and set initial values.
Extract Valid SNPs from Clumped File#
For Windows, download gwak
, and for Linux, the awk
command is sufficient. For Windows, GWAK
is required. You can download it from here. Get it and place it in the same directory.
Execution Path#
At this stage, we have the genotype training data newtrainfilename = "train_data.QC"
and genotype test data newtestfilename = "test_data.QC"
.
We modified the following variables:
filedirec = "SampleData1"
orfiledirec = sys.argv[1]
foldnumber = "0"
orfoldnumber = sys.argv[2]
for HPC.
Only these two variables can be modified to execute the code for specific data and specific folds. Though the code can be executed separately for each fold on HPC and separately for each dataset, it is recommended to execute it for multiple diseases and one fold at a time. Here’s the corrected text in Markdown format:
P-values#
PRS calculation relies on P-values. SNPs with low P-values, indicating a high degree of association with a specific trait, are considered for calculation.
You can modify the code below to consider a specific set of P-values and save the file in the same format.
We considered the following parameters:
Minimum P-value:
1e-10
Maximum P-value:
1.0
Minimum exponent:
10
(Minimum P-value in exponent)Number of intervals:
100
(Number of intervals to be considered)
The code generates an array of logarithmically spaced P-values:
import numpy as np
import os
minimumpvalue = 10 # Minimum exponent for P-values
numberofintervals = 100 # Number of intervals to be considered
allpvalues = np.logspace(-minimumpvalue, 0, numberofintervals, endpoint=True) # Generating an array of logarithmically spaced P-values
print("Minimum P-value:", allpvalues[0])
print("Maximum P-value:", allpvalues[-1])
count = 1
with open(os.path.join(folddirec, 'range_list'), 'w') as file:
for value in allpvalues:
file.write(f'pv_{value} 0 {value}\n') # Writing range information to the 'range_list' file
count += 1
pvaluefile = os.path.join(folddirec, 'range_list')
In this code:
minimumpvalue
defines the minimum exponent for P-values.numberofintervals
specifies how many intervals to consider.allpvalues
generates an array of P-values spaced logarithmically.The script writes these P-values to a file named
range_list
in the specified directory.
from operator import index
import pandas as pd
import numpy as np
import os
import subprocess
import sys
import pandas as pd
import statsmodels.api as sm
import pandas as pd
from sklearn.metrics import roc_auc_score, confusion_matrix
from statsmodels.stats.contingency_tables import mcnemar
def create_directory(directory):
"""Function to create a directory if it doesn't exist."""
if not os.path.exists(directory): # Checking if the directory doesn't exist
os.makedirs(directory) # Creating the directory if it doesn't exist
return directory # Returning the created or existing directory
#foldnumber = sys.argv[1]
foldnumber = "0" # Setting 'foldnumber' to "0"
folddirec = filedirec + os.sep + "Fold_" + foldnumber # Creating a directory path for the specific fold
trainfilename = "train_data" # Setting the name of the training data file
newtrainfilename = "train_data.QC" # Setting the name of the new training data file
testfilename = "test_data" # Setting the name of the test data file
newtestfilename = "test_data.QC" # Setting the name of the new test data file
# Number of PCA to be included as a covariate.
numberofpca = ["6"] # Setting the number of PCA components to be included
# Clumping parameters.
clump_p1 = [1] # List containing clump parameter 'p1'
clump_r2 = [0.1] # List containing clump parameter 'r2'
clump_kb = [200] # List containing clump parameter 'kb'
# Pruning parameters.
p_window_size = [200] # List containing pruning parameter 'window_size'
p_slide_size = [50] # List containing pruning parameter 'slide_size'
p_LD_threshold = [0.25] # List containing pruning parameter 'LD_threshold'
# Kindly note that the number of p-values to be considered varies, and the actual p-value depends on the dataset as well.
# We will specify the range list here.
minimumpvalue = 10 # Minimum p-value in exponent
numberofintervals = 20 # Number of intervals to be considered
allpvalues = np.logspace(-minimumpvalue, 0, numberofintervals, endpoint=True) # Generating an array of logarithmically spaced p-values
count = 1
with open(folddirec + os.sep + 'range_list', 'w') as file:
for value in allpvalues:
file.write(f'pv_{value} 0 {value}\n') # Writing range information to the 'range_list' file
count = count + 1
pvaluefile = folddirec + os.sep + 'range_list'
# Initializing an empty DataFrame with specified column names
#prs_result = pd.DataFrame(columns=["clump_p1", "clump_r2", "clump_kb", "p_window_size", "p_slide_size", "p_LD_threshold",
# "pvalue", "numberofpca","h2model","numberofvariants","Train_pure_prs", "Train_null_model", "Train_best_model",
# "Test_pure_prs", "Test_null_model", "Test_best_model"])
Define Helper Functions#
Perform Clumping and Pruning
Calculate PCA Using Plink
Fit Binary Phenotype and Save Results
Fit Continuous Phenotype and Save Results
import os
import subprocess
import pandas as pd
import statsmodels.api as sm
from sklearn.metrics import explained_variance_score
def perform_clumping_and_pruning_on_individual_data(traindirec, newtrainfilename,numberofpca, p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile):
command = [
"./plink",
"--bfile", traindirec+os.sep+newtrainfilename,
"--indep-pairwise", p1_val, p2_val, p3_val,
"--out", traindirec+os.sep+trainfilename
]
subprocess.run(command)
# First perform pruning and then clumping and the pruning.
command = [
"./plink",
"--bfile", traindirec+os.sep+newtrainfilename,
"--clump-p1", c1_val,
"--extract", traindirec+os.sep+trainfilename+".prune.in",
"--clump-r2", c2_val,
"--clump-kb", c3_val,
"--clump", filedirec+os.sep+filedirec+".txt",
"--clump-snp-field", "SNP",
"--clump-field", "P",
"--out", traindirec+os.sep+trainfilename
]
subprocess.run(command)
# Extract the valid SNPs from th clumped file.
# For windows download gwak for linux awk commmand is sufficient.
### For windows require GWAK.
### https://sourceforge.net/projects/gnuwin32/
##3 Get it and place it in the same direc.
#os.system("gawk "+"\""+"NR!=1{print $3}"+"\" "+ traindirec+os.sep+trainfilename+".clumped > "+traindirec+os.sep+trainfilename+".valid.snp")
#print("gawk "+"\""+"NR!=1{print $3}"+"\" "+ traindirec+os.sep+trainfilename+".clumped > "+traindirec+os.sep+trainfilename+".valid.snp")
#Linux:
command = f"awk 'NR!=1{{print $3}}' {traindirec}{os.sep}{trainfilename}.clumped > {traindirec}{os.sep}{trainfilename}.valid.snp"
os.system(command)
command = [
"./plink",
"--make-bed",
"--bfile", traindirec+os.sep+newtrainfilename,
"--indep-pairwise", p1_val, p2_val, p3_val,
"--extract", traindirec+os.sep+trainfilename+".valid.snp",
"--out", traindirec+os.sep+newtrainfilename+".clumped.pruned"
]
subprocess.run(command)
command = [
"./plink",
"--make-bed",
"--bfile", traindirec+os.sep+testfilename,
"--indep-pairwise", p1_val, p2_val, p3_val,
"--extract", traindirec+os.sep+trainfilename+".valid.snp",
"--out", traindirec+os.sep+testfilename+".clumped.pruned"
]
subprocess.run(command)
def calculate_pca_for_traindata_testdata_for_clumped_pruned_snps(traindirec, newtrainfilename,p):
# Calculate the PRS for the test data using the same set of SNPs and also calculate the PCA.
# Also extract the PCA at this point.
# PCA are calculated afer clumping and pruining.
command = [
"./plink",
"--bfile", folddirec+os.sep+testfilename+".clumped.pruned",
# Select the final variants after clumping and pruning.
"--extract", traindirec+os.sep+trainfilename+".valid.snp",
"--pca", p,
"--out", folddirec+os.sep+testfilename
]
subprocess.run(command)
command = [
"./plink",
"--bfile", traindirec+os.sep+newtrainfilename+".clumped.pruned",
# Select the final variants after clumping and pruning.
"--extract", traindirec+os.sep+trainfilename+".valid.snp",
"--pca", p,
"--out", traindirec+os.sep+trainfilename
]
subprocess.run(command)
# This function fit the binary model on the PRS.
def fit_binary_phenotype_on_PRS(traindirec, newtrainfilename,p, p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile):
threshold_values = allpvalues
# Merge the covariates, pca and phenotypes.
tempphenotype_train = pd.read_table(traindirec+os.sep+newtrainfilename+".clumped.pruned"+".fam", sep="\s+",header=None)
phenotype_train = pd.DataFrame()
phenotype_train["Phenotype"] = tempphenotype_train[5].values
pcs_train = pd.read_table(traindirec+os.sep+trainfilename+".eigenvec", sep="\s+",header=None, names=["FID", "IID"] + [f"PC{str(i)}" for i in range(1, int(p)+1)])
covariate_train = pd.read_table(traindirec+os.sep+trainfilename+".cov",sep="\s+")
covariate_train.fillna(0, inplace=True)
covariate_train = covariate_train[covariate_train["FID"].isin(pcs_train["FID"].values) & covariate_train["IID"].isin(pcs_train["IID"].values)]
covariate_train['FID'] = covariate_train['FID'].astype(str)
pcs_train['FID'] = pcs_train['FID'].astype(str)
covariate_train['IID'] = covariate_train['IID'].astype(str)
pcs_train['IID'] = pcs_train['IID'].astype(str)
covandpcs_train = pd.merge(covariate_train, pcs_train, on=["FID","IID"])
covandpcs_train.fillna(0, inplace=True)
## Scale the covariates!
from sklearn.preprocessing import MinMaxScaler
from sklearn.metrics import explained_variance_score
scaler = MinMaxScaler()
normalized_values_train = scaler.fit_transform(covandpcs_train.iloc[:, 2:])
#covandpcs_train.iloc[:, 2:] = normalized_values_test
tempphenotype_test = pd.read_table(traindirec+os.sep+testfilename+".clumped.pruned"+".fam", sep="\s+",header=None)
phenotype_test= pd.DataFrame()
phenotype_test["Phenotype"] = tempphenotype_test[5].values
pcs_test = pd.read_table(traindirec+os.sep+testfilename+".eigenvec", sep="\s+",header=None, names=["FID", "IID"] + [f"PC{str(i)}" for i in range(1, int(p)+1)])
covariate_test = pd.read_table(traindirec+os.sep+testfilename+".cov",sep="\s+")
covariate_test.fillna(0, inplace=True)
covariate_test = covariate_test[covariate_test["FID"].isin(pcs_test["FID"].values) & covariate_test["IID"].isin(pcs_test["IID"].values)]
covariate_test['FID'] = covariate_test['FID'].astype(str)
pcs_test['FID'] = pcs_test['FID'].astype(str)
covariate_test['IID'] = covariate_test['IID'].astype(str)
pcs_test['IID'] = pcs_test['IID'].astype(str)
covandpcs_test = pd.merge(covariate_test, pcs_test, on=["FID","IID"])
covandpcs_test.fillna(0, inplace=True)
normalized_values_test = scaler.transform(covandpcs_test.iloc[:, 2:])
#covandpcs_test.iloc[:, 2:] = normalized_values_test
tempalphas = [0.1,0.2,0.3,0.4,0.5,0.6,0.7,0.8,0.9]
l1weights = [0.1,0.2,0.3,0.4,0.5,0.6,0.7,0.8,0.9]
tempalphas = [0.1]
l1weights = [0.1]
phenotype_train["Phenotype"] = phenotype_train["Phenotype"].replace({1: 0, 2: 1})
phenotype_test["Phenotype"] = phenotype_test["Phenotype"].replace({1: 0, 2: 1})
for tempalpha in tempalphas:
for l1weight in l1weights:
try:
null_model = sm.Logit(phenotype_train["Phenotype"], sm.add_constant(covandpcs_train.iloc[:, 2:])).fit_regularized(alpha=tempalpha, L1_wt=l1weight)
#null_model = sm.Logit(phenotype_train["Phenotype"], sm.add_constant(covandpcs_train.iloc[:, 2:])).fit()
except:
print("XXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXX")
continue
train_null_predicted = null_model.predict(sm.add_constant(covandpcs_train.iloc[:, 2:]))
from sklearn.metrics import roc_auc_score, confusion_matrix
from sklearn.metrics import r2_score
test_null_predicted = null_model.predict(sm.add_constant(covandpcs_test.iloc[:, 2:]))
global prs_result
for i in threshold_values:
try:
prs_train = pd.read_table(traindirec+os.sep+Name+os.sep+"train_data.pv_"+f"{i}.profile", sep="\s+", usecols=["FID", "IID", "SCORE"])
except:
print("xx")
continue
prs_train['FID'] = prs_train['FID'].astype(str)
prs_train['IID'] = prs_train['IID'].astype(str)
try:
prs_test = pd.read_table(traindirec+os.sep+Name+os.sep+"test_data.pv_"+f"{i}.profile", sep="\s+", usecols=["FID", "IID", "SCORE"])
except:
continue
prs_test['FID'] = prs_test['FID'].astype(str)
prs_test['IID'] = prs_test['IID'].astype(str)
pheno_prs_train = pd.merge(covandpcs_train, prs_train, on=["FID", "IID"])
pheno_prs_test = pd.merge(covandpcs_test, prs_test, on=["FID", "IID"])
try:
model = sm.Logit(phenotype_train["Phenotype"], sm.add_constant(pheno_prs_train.iloc[:, 2:])).fit_regularized(alpha=tempalpha, L1_wt=l1weight)
#model = sm.Logit(phenotype_train["Phenotype"], sm.add_constant(pheno_prs_train.iloc[:, 2:])).fit()
except:
print("xx")
continue
train_best_predicted = model.predict(sm.add_constant(pheno_prs_train.iloc[:, 2:]))
test_best_predicted = model.predict(sm.add_constant(pheno_prs_test.iloc[:, 2:]))
from sklearn.metrics import roc_auc_score, confusion_matrix
prs_result = prs_result._append({
"clump_p1": c1_val,
"clump_r2": c2_val,
"clump_kb": c3_val,
"p_window_size": p1_val,
"p_slide_size": p2_val,
"p_LD_threshold": p3_val,
"pvalue": i,
"numberofpca":p,
"tempalpha":str(tempalpha),
"l1weight":str(l1weight),
"Train_pure_prs":roc_auc_score(phenotype_train["Phenotype"].values,prs_train['SCORE'].values),
"Train_null_model":roc_auc_score(phenotype_train["Phenotype"].values,train_null_predicted.values),
"Train_best_model":roc_auc_score(phenotype_train["Phenotype"].values,train_best_predicted.values),
"Test_pure_prs":roc_auc_score(phenotype_test["Phenotype"].values,prs_test['SCORE'].values),
"Test_null_model":roc_auc_score(phenotype_test["Phenotype"].values,test_null_predicted.values),
"Test_best_model":roc_auc_score(phenotype_test["Phenotype"].values,test_best_predicted.values),
}, ignore_index=True)
print(prs_result)
prs_result.to_csv(traindirec+os.sep+Name+os.sep+"Results.csv",index=False)
return
# This function fit the binary model on the PRS.
def fit_continous_phenotype_on_PRS(traindirec, newtrainfilename,p, p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile):
threshold_values = allpvalues
# Merge the covariates, pca and phenotypes.
tempphenotype_train = pd.read_table(traindirec+os.sep+newtrainfilename+".clumped.pruned"+".fam", sep="\s+",header=None)
phenotype_train = pd.DataFrame()
phenotype_train["Phenotype"] = tempphenotype_train[5].values
pcs_train = pd.read_table(traindirec+os.sep+trainfilename+".eigenvec", sep="\s+",header=None, names=["FID", "IID"] + [f"PC{str(i)}" for i in range(1, int(p)+1)])
covariate_train = pd.read_table(traindirec+os.sep+trainfilename+".cov",sep="\s+")
covariate_train.fillna(0, inplace=True)
covariate_train = covariate_train[covariate_train["FID"].isin(pcs_train["FID"].values) & covariate_train["IID"].isin(pcs_train["IID"].values)]
covariate_train['FID'] = covariate_train['FID'].astype(str)
pcs_train['FID'] = pcs_train['FID'].astype(str)
covariate_train['IID'] = covariate_train['IID'].astype(str)
pcs_train['IID'] = pcs_train['IID'].astype(str)
covandpcs_train = pd.merge(covariate_train, pcs_train, on=["FID","IID"])
covandpcs_train.fillna(0, inplace=True)
## Scale the covariates!
from sklearn.preprocessing import MinMaxScaler
from sklearn.metrics import explained_variance_score
scaler = MinMaxScaler()
normalized_values_train = scaler.fit_transform(covandpcs_train.iloc[:, 2:])
#covandpcs_train.iloc[:, 2:] = normalized_values_test
tempphenotype_test = pd.read_table(traindirec+os.sep+testfilename+".clumped.pruned"+".fam", sep="\s+",header=None)
phenotype_test= pd.DataFrame()
phenotype_test["Phenotype"] = tempphenotype_test[5].values
pcs_test = pd.read_table(traindirec+os.sep+testfilename+".eigenvec", sep="\s+",header=None, names=["FID", "IID"] + [f"PC{str(i)}" for i in range(1, int(p)+1)])
covariate_test = pd.read_table(traindirec+os.sep+testfilename+".cov",sep="\s+")
covariate_test.fillna(0, inplace=True)
covariate_test = covariate_test[covariate_test["FID"].isin(pcs_test["FID"].values) & covariate_test["IID"].isin(pcs_test["IID"].values)]
covariate_test['FID'] = covariate_test['FID'].astype(str)
pcs_test['FID'] = pcs_test['FID'].astype(str)
covariate_test['IID'] = covariate_test['IID'].astype(str)
pcs_test['IID'] = pcs_test['IID'].astype(str)
covandpcs_test = pd.merge(covariate_test, pcs_test, on=["FID","IID"])
covandpcs_test.fillna(0, inplace=True)
normalized_values_test = scaler.transform(covandpcs_test.iloc[:, 2:])
#covandpcs_test.iloc[:, 2:] = normalized_values_test
tempalphas = [0.1,0.2,0.3,0.4,0.5,0.6,0.7,0.8,0.9]
l1weights = [0.1,0.2,0.3,0.4,0.5,0.6,0.7,0.8,0.9]
tempalphas = [0.1]
l1weights = [0.1]
#phenotype_train["Phenotype"] = phenotype_train["Phenotype"].replace({1: 0, 2: 1})
#phenotype_test["Phenotype"] = phenotype_test["Phenotype"].replace({1: 0, 2: 1})
for tempalpha in tempalphas:
for l1weight in l1weights:
try:
#null_model = sm.OLS(phenotype_train["Phenotype"], sm.add_constant(covandpcs_train.iloc[:, 2:])).fit_regularized(alpha=tempalpha, L1_wt=l1weight)
null_model = sm.OLS(phenotype_train["Phenotype"], sm.add_constant(covandpcs_train.iloc[:, 2:])).fit()
#null_model = sm.OLS(phenotype_train["Phenotype"], sm.add_constant(covandpcs_train.iloc[:, 2:])).fit()
except:
print("XXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXXX")
continue
train_null_predicted = null_model.predict(sm.add_constant(covandpcs_train.iloc[:, 2:]))
from sklearn.metrics import roc_auc_score, confusion_matrix
from sklearn.metrics import r2_score
test_null_predicted = null_model.predict(sm.add_constant(covandpcs_test.iloc[:, 2:]))
global prs_result
for i in threshold_values:
try:
prs_train = pd.read_table(traindirec+os.sep+Name+os.sep+"train_data.pv_"+f"{i}.profile", sep="\s+", usecols=["FID", "IID", "SCORE"])
except:
continue
prs_train['FID'] = prs_train['FID'].astype(str)
prs_train['IID'] = prs_train['IID'].astype(str)
try:
prs_test = pd.read_table(traindirec+os.sep+Name+os.sep+"test_data.pv_"+f"{i}.profile", sep="\s+", usecols=["FID", "IID", "SCORE"])
except:
continue
prs_test['FID'] = prs_test['FID'].astype(str)
prs_test['IID'] = prs_test['IID'].astype(str)
pheno_prs_train = pd.merge(covandpcs_train, prs_train, on=["FID", "IID"])
pheno_prs_test = pd.merge(covandpcs_test, prs_test, on=["FID", "IID"])
try:
#model = sm.OLS(phenotype_train["Phenotype"], sm.add_constant(pheno_prs_train.iloc[:, 2:])).fit_regularized(alpha=tempalpha, L1_wt=l1weight)
model = sm.OLS(phenotype_train["Phenotype"], sm.add_constant(pheno_prs_train.iloc[:, 2:])).fit()
except:
continue
train_best_predicted = model.predict(sm.add_constant(pheno_prs_train.iloc[:, 2:]))
test_best_predicted = model.predict(sm.add_constant(pheno_prs_test.iloc[:, 2:]))
from sklearn.metrics import roc_auc_score, confusion_matrix
prs_result = prs_result._append({
"clump_p1": c1_val,
"clump_r2": c2_val,
"clump_kb": c3_val,
"p_window_size": p1_val,
"p_slide_size": p2_val,
"p_LD_threshold": p3_val,
"pvalue": i,
"numberofpca":p,
"tempalpha":str(tempalpha),
"l1weight":str(l1weight),
"Train_pure_prs":explained_variance_score(phenotype_train["Phenotype"],prs_train['SCORE'].values),
"Train_null_model":explained_variance_score(phenotype_train["Phenotype"],train_null_predicted),
"Train_best_model":explained_variance_score(phenotype_train["Phenotype"],train_best_predicted),
"Test_pure_prs":explained_variance_score(phenotype_test["Phenotype"],prs_test['SCORE'].values),
"Test_null_model":explained_variance_score(phenotype_test["Phenotype"],test_null_predicted),
"Test_best_model":explained_variance_score(phenotype_test["Phenotype"],test_best_predicted),
}, ignore_index=True)
prs_result.to_csv(traindirec+os.sep+Name+os.sep+"Results.csv",index=False)
return
Execute EBPRS#
import os
import subprocess
import pandas as pd
import statsmodels.api as sm
from sklearn.metrics import explained_variance_score
# Define a global variable to store results
prs_result = pd.DataFrame()
def transform_ebprs_data(traindirec, newtrainfilename,numberofpca, cases,controls,p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile):
### First perform clumping on the file and save the clumpled file.
#perform_clumping_and_pruning_on_individual_data(traindirec, newtrainfilename,p, p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile)
# Also extract the PCA at this point for both test and training data.
#calculate_pca_for_traindata_testdata_for_clumped_pruned_snps(traindirec, newtrainfilename,p)
#Extract p-values from the GWAS file.
# Command for Linux.
os.system("awk "+"\'"+"{print $3,$8}"+"\'"+" ./"+filedirec+os.sep+filedirec+".txt > ./"+traindirec+os.sep+"SNP.pvalue")
# At this stage, we will merge the PCA and COV file.
tempphenotype_train = pd.read_table(traindirec+os.sep+newtrainfilename+".clumped.pruned"+".fam", sep="\s+",header=None)
phenotype = pd.DataFrame()
phenotype = tempphenotype_train[[0,1,5]]
phenotype.to_csv(traindirec+os.sep+trainfilename+".PHENO",sep="\t",header=['FID', 'IID', 'PHENO'],index=False)
pcs_train = pd.read_table(traindirec+os.sep+trainfilename+".eigenvec", sep="\s+",header=None, names=["FID", "IID"] + [f"PC{str(i)}" for i in range(1, int(p)+1)])
covariate_train = pd.read_table(traindirec+os.sep+trainfilename+".cov",sep="\s+")
covariate_train.fillna(0, inplace=True)
print(covariate_train.head())
print(len(covariate_train))
covariate_train = covariate_train[covariate_train["FID"].isin(pcs_train["FID"].values) & covariate_train["IID"].isin(pcs_train["IID"].values)]
print(len(covariate_train))
covariate_train['FID'] = covariate_train['FID'].astype(str)
pcs_train['FID'] = pcs_train['FID'].astype(str)
covariate_train['IID'] = covariate_train['IID'].astype(str)
pcs_train['IID'] = pcs_train['IID'].astype(str)
covandpcs_train = pd.merge(covariate_train, pcs_train, on=["FID","IID"])
covandpcs_train.to_csv(traindirec+os.sep+trainfilename+".COV_PCA",sep="\t",index=False)
# Delete files generated in the previous iteration.
files_to_remove = [
traindirec+os.sep+"newEBPRS"+".txt",
]
# Loop through the files and directories and remove them if they exist
for file_path in files_to_remove:
if os.path.exists(file_path):
if os.path.isfile(file_path):
#os.remove(file_path)
print(f"Removed file: {file_path}")
elif os.path.isdir(file_path):
#shutil.rmtree(file_path)
print(f"Removed directory: {file_path}")
else:
print(f"File or directory does not exist: {file_path}")
cases = str(cases)
controls = str(controls)
os.system("Rscript EBPRS.R "+os.path.join(filedirec)+" "+traindirec+" "+trainfilename+" "+newtrainfilename+".clumped.pruned"+ " "+"EBPRSGWAS.txt" +" "+cases+" "+controls)
#raise
gwas = pd.read_csv(traindirec+os.sep+"newEBPRS"+".txt",sep="\s+")
if check_phenotype_is_binary_or_continous(filedirec)=="Binary":
gwas["effectsize"] = np.exp(gwas["effectsize"])
pass
else:
pass
gwas.iloc[:,[4,0,5]].to_csv(traindirec+os.sep+"newEBPRS"+".txt",sep="\t",index=False)
# Caluclate Plink Score.
command = [
"./plink",
"--bfile", traindirec+os.sep+newtrainfilename,
### SNP column = 3, Effect allele column 1 = 4, OR column=9
"--score", traindirec+os.sep+"newEBPRS"+".txt", "1", "2", "3", "header",
"--q-score-range", traindirec+os.sep+"range_list",traindirec+os.sep+"SNP.pvalue",
"--extract", traindirec+os.sep+trainfilename+".valid.snp",
"--out", traindirec+os.sep+Name+os.sep+trainfilename
]
#exit(0)
subprocess.run(command)
command = [
"./plink",
"--bfile", folddirec+os.sep+testfilename,
### SNP column = 3, Effect allele column 1 = 4, Beta column=12
"--score", traindirec+os.sep+"newEBPRS"+".txt", "1", "2", "3", "header",
"--q-score-range", traindirec+os.sep+"range_list",traindirec+os.sep+"SNP.pvalue",
"--extract", traindirec+os.sep+trainfilename+".valid.snp",
"--out", folddirec+os.sep+Name+os.sep+testfilename
]
subprocess.run(command)
if check_phenotype_is_binary_or_continous(filedirec)=="Binary":
print("Binary Phenotype!")
fit_binary_phenotype_on_PRS(traindirec, newtrainfilename,p, p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile)
else:
print("Continous Phenotype!")
fit_continous_phenotype_on_PRS(traindirec, newtrainfilename,p, p1_val, p2_val, p3_val, c1_val, c2_val, c3_val,Name,pvaluefile)
result_directory = "EBPRS"
# Nested loops to iterate over different parameter values
create_directory(folddirec+os.sep+result_directory)
for p1_val in p_window_size:
for p2_val in p_slide_size:
for p3_val in p_LD_threshold:
for c1_val in clump_p1:
for c2_val in clump_r2:
for c3_val in clump_kb:
for p in numberofpca:
# Specify the number of cases and contorls here and they will be passed to EBPRS.
cases = 100
controls = 100
transform_ebprs_data(folddirec, newtrainfilename, p,cases,controls, str(p1_val), str(p2_val), str(p3_val), str(c1_val), str(c2_val), str(c3_val), result_directory, pvaluefile)
FID IID Sex
0 HG00097 HG00097 2
1 HG00099 HG00099 2
2 HG00101 HG00101 1
3 HG00102 HG00102 2
4 HG00103 HG00103 1
380
380
Removed file: SampleData1/Fold_0/newEBPRS.txt
[1] "SampleData1" "SampleData1/Fold_0"
[3] "train_data" "train_data.QC.clumped.pruned"
[5] "EBPRSGWAS.txt" "100"
[7] "100"
Loading required package: ROCR
Loading required package: BEDMatrix
Loading required package: data.table
Extracting number of samples and rownames from train_data.QC.clumped.pruned.fam...
Extracting number of variants and colnames from train_data.QC.clumped.pruned.bim...
Merging the data...
Completed.
172878 SNPs are included in calculating PRS.
380 individuals in total.
Coordinating the ref alleles...
172878 variants in total.
Skip 0 variants due to allele code mismatch.
Utilizing EM algorithm to derive pi0 and sigma02
Initial Fitting...
pi0: 0.4775699
sigma02: 0
Pi1:
[1] 0.07158279 0.09535020 0.35549710
sigma^2:
[1] 3.363172 3.363213 4.537519
Iteration: 40
Log-likelihood: -350192.9
1 : Set beta0 to 0
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 0.8348743
Avg. Relative Error: 0.8348743
2 : Set beta0 to 1728.78
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.632246
Avg. Relative Error: 1.632246
3 : Set beta0 to 3457.56
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.679502
Avg. Relative Error: 1.679502
4 : Set beta0 to 5186.34
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.181433
Avg. Relative Error: 1.181433
5 : Set beta0 to 6915.12
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.183383
Avg. Relative Error: 2.183383
6 : Set beta0 to 8643.9
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.146681
Avg. Relative Error: 2.146681
7 : Set beta0 to 10372.68
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.151909
Avg. Relative Error: 2.151909
8 : Set beta0 to 12101.46
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.522186
Avg. Relative Error: 2.522186
9 : Set beta0 to 13830.24
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.229035
Avg. Relative Error: 2.229035
10 : Set beta0 to 15559.02
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.552098
Avg. Relative Error: 2.552098
11 : Set beta0 to 17287.8
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.326609
Avg. Relative Error: 2.326609
12 : Set beta0 to 19016.58
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.816357
Avg. Relative Error: 2.816357
13 : Set beta0 to 20745.36
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.830589
Avg. Relative Error: 2.830589
14 : Set beta0 to 22474.14
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.747869
Avg. Relative Error: 2.747869
15 : Set beta0 to 24202.92
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 2.93028
Avg. Relative Error: 2.93028
16 : Set beta0 to 25931.7
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 3.237623
Avg. Relative Error: 3.237623
17 : Set beta0 to 27660.48
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 3.313736
Avg. Relative Error: 3.313736
18 : Set beta0 to 29389.26
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 3.348256
Avg. Relative Error: 3.348256
19 : Set beta0 to 31118.04
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 3.315788
Avg. Relative Error: 3.315788
20 : Set beta0 to 32846.82
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 3.47765
Avg. Relative Error: 3.47765
21 : Set beta0 to 34575.6
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 3.278971
Avg. Relative Error: 3.278971
Further searching optimal beta0 within [ 0 , 1728.78 ]
22 : Set beta0 to 86.439
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.195123
Avg. Relative Error: 1.195123
23 : Set beta0 to 172.878
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.51136
Avg. Relative Error: 1.51136
24 : Set beta0 to 259.317
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.151926
Avg. Relative Error: 1.151926
25 : Set beta0 to 345.756
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 0.9233646
Avg. Relative Error: 0.9233646
26 : Set beta0 to 432.195
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.329452
Avg. Relative Error: 1.329452
27 : Set beta0 to 518.634
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.307889
Avg. Relative Error: 1.307889
28 : Set beta0 to 605.073
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.380646
Avg. Relative Error: 1.380646
29 : Set beta0 to 691.512
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.519814
Avg. Relative Error: 1.519814
30 : Set beta0 to 777.951
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.289811
Avg. Relative Error: 1.289811
31 : Set beta0 to 864.39
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 0.9445429
Avg. Relative Error: 0.9445429
32 : Set beta0 to 950.829
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.680776
Avg. Relative Error: 1.680776
33 : Set beta0 to 1037.268
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.212291
Avg. Relative Error: 1.212291
34 : Set beta0 to 1123.707
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.085111
Avg. Relative Error: 1.085111
35 : Set beta0 to 1210.146
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.472862
Avg. Relative Error: 1.472862
36 : Set beta0 to 1296.585
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 0.8118076
Avg. Relative Error: 0.8118076
37 : Set beta0 to 1383.024
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.404595
Avg. Relative Error: 1.404595
38 : Set beta0 to 1469.463
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.57678
Avg. Relative Error: 1.57678
39 : Set beta0 to 1555.902
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.540374
Avg. Relative Error: 1.540374
40 : Set beta0 to 1642.341
Perturbation: 1 / 1 Boot: 1 / 1 RelErr: 1.375406
Avg. Relative Error: 1.375406
Optimal Beta0 = 1296.585
Start Inference using optimized Beta0
pi0: 0.233863
sigma02: 0
Pi1:
[1] 0.385088484 0.376663031 0.004385496
sigma^2:
[1] 2.83157 2.83157 44.00322
Iteration: 470
Log-likelihood: -348675.3
Estimating the parameters.
Completed.
Now calculating scores
380 individuals in total.
The R2 equals to 0.1346226
A1 A2 OR P SNP effectsize
1 A G 1.0138178 4.01254e-06 rs10000085 5.103730e-03
2 C T 1.0020569 4.25209e-01 rs10000547 5.153118e-04
3 A G 1.0101860 1.01897e-02 rs10000747 3.563120e-03
4 C T 0.9984535 5.54859e-01 rs10001025 -3.746209e-04
5 C T 1.0058339 4.52276e-03 rs1000119 2.088845e-03
6 T C 1.0044278 3.01377e-02 rs1000136 1.478146e-03
7 G A 1.0052394 1.36000e-01 rs10001483 1.528992e-03
8 C T 0.9968784 2.38115e-01 rs10001638 -8.508413e-04
9 A G 1.0049520 1.71626e-02 rs1000174 1.702191e-03
10 C T 1.0041921 3.95435e-02 rs10001745 1.374983e-03
11 A G 1.0086753 1.02616e-03 rs10002070 3.162796e-03
12 A G 0.9923384 1.26132e-02 rs10002089 -2.683865e-03
13 T C 0.9922804 3.42935e-04 rs10002171 -2.855696e-03
14 A C 1.0024802 2.47099e-01 rs10002308 6.706768e-04
15 T C 1.0032685 3.02278e-01 rs10002500 8.588486e-04
16 C T 1.0024077 2.83985e-01 rs10002521 6.385375e-04
17 G A 0.9961715 1.28907e-01 rs1000256 -1.129458e-03
18 G A 0.9971094 5.94265e-01 rs10002586 -6.948726e-04
19 T C 1.0017593 4.09225e-01 rs10002603 4.431864e-04
20 C T 1.0008183 7.23022e-01 rs10002762 1.922959e-04
21 G A 0.9967885 1.18142e-01 rs10002991 -9.567223e-04
22 C T 0.9963621 2.02916e-01 rs10003104 -1.013614e-03
23 C T 0.9932140 5.89423e-03 rs10003276 -2.431041e-03
24 G A 1.0047919 1.98002e-02 rs10003349 1.636388e-03
25 G A 0.9921236 2.94658e-02 rs10003543 -2.649271e-03
26 T G 1.0032618 1.09241e-01 rs10003626 9.771202e-04
27 G A 1.0042480 2.15794e-01 rs10003762 1.169249e-03
28 G A 1.0141494 3.37810e-04 rs10003889 5.177804e-03
29 C T 1.0292506 6.25279e-04 rs10004654 1.059257e-02
30 G A 0.9939023 1.57032e-02 rs1000477 -2.115796e-03
31 T G 0.9963039 1.28258e-01 rs10004825 -1.090972e-03
32 G T 0.9955059 2.81824e-02 rs1000494 -1.513030e-03
33 G A 1.0078143 2.86516e-01 rs10005103 2.064263e-03
34 C T 1.0044045 4.43073e-02 rs10005406 1.432716e-03
35 C T 1.0046616 3.21019e-01 rs10005527 1.213632e-03
36 G A 1.0063337 2.19877e-03 rs10005563 2.293905e-03
37 C T 0.9950260 8.05840e-02 rs10005711 -1.544328e-03
38 T C 1.0056641 1.47020e-02 rs10005820 1.959185e-03
39 T C 0.9953515 2.35018e-02 rs10006052 -1.581130e-03
40 G A 0.9928591 9.04508e-02 rs10006058 -2.193962e-03
41 C T 0.9976039 2.39807e-01 rs10006551 -6.522245e-04
42 G A 0.9993238 7.90769e-01 rs10006717 -1.578172e-04
43 G A 0.9974013 2.29692e-01 rs10006746 -7.116688e-04
44 A C 0.9965790 9.19456e-02 rs10006784 -1.047327e-03
45 G A 1.0012419 7.55373e-01 rs10006791 2.906466e-04
46 C A 1.0075717 1.96416e-02 rs10007446 2.583096e-03
47 C T 0.9923872 3.70279e-03 rs10007472 -2.754622e-03
48 T G 1.0044180 3.11522e-02 rs10007568 1.471887e-03
49 G A 1.0033730 1.15708e-01 rs10007572 1.003902e-03
50 A G 0.9970014 3.39906e-01 rs1000797 -7.773290e-04
51 G T 0.9985082 4.62535e-01 rs10008277 -3.700835e-04
52 A G 1.0098888 1.52336e-01 rs10008360 2.839746e-03
53 A G 0.9956028 5.60174e-01 rs1000877 -1.065470e-03
54 T C 0.9995891 8.87066e-01 rs10008814 -9.523244e-05
55 A G 1.0090819 1.64849e-05 rs10008867 3.354949e-03
56 T G 1.0064636 3.71465e-03 rs10008952 2.322234e-03
57 C T 0.9987882 5.53079e-01 rs10009131 -2.936325e-04
58 C T 1.0045465 3.84680e-01 rs1000916 1.153701e-03
59 C A 1.0002645 8.96620e-01 rs10009280 6.125458e-05
60 C T 1.0054760 2.42637e-02 rs1000929 1.850005e-03
61 T C 0.9967079 1.41297e-01 rs10009409 -9.604091e-04
62 T C 0.9961833 2.92067e-01 rs10009693 -1.011354e-03
63 C T 1.0002874 9.07367e-01 rs10009842 6.652366e-05
64 G A 1.0024991 5.19916e-01 rs10010101 6.091902e-04
65 C T 1.0114313 1.36158e-07 rs10010407 4.259925e-03
66 A G 0.9965368 8.78861e-02 rs10010623 -1.065191e-03
67 T C 0.9969687 1.35585e-01 rs10011008 -8.886153e-04
68 T C 0.9941349 3.81732e-01 rs1001102 -1.497698e-03
69 G A 1.0085162 4.68585e-02 rs1001108 2.752888e-03
70 A G 1.0034584 1.31666e-01 rs10011229 1.014034e-03
71 G A 1.0022953 6.26717e-01 rs10011252 5.469599e-04
72 A G 1.0050416 3.10900e-01 rs10011287 1.318294e-03
73 C T 1.0007186 7.57676e-01 rs1001145 1.681625e-04
74 C A 0.9978587 3.03936e-01 rs10011993 -5.637287e-04
75 C A 0.9931722 7.55110e-03 rs10011998 -2.430652e-03
76 T C 0.9919379 7.43019e-05 rs10012096 -2.996125e-03
77 G A 0.9987757 5.51078e-01 rs10012159 -2.967942e-04
78 G A 0.9925832 6.73706e-04 rs10012324 -2.733885e-03
79 T C 1.0017631 4.00917e-01 rs10012329 4.454088e-04
80 T C 0.9845009 7.37276e-02 rs10012345 -4.879177e-03
81 G A 0.9938647 9.94973e-02 rs10012438 -1.865384e-03
82 G A 1.0051247 1.19805e-01 rs10012769 1.517917e-03
83 A G 1.0007171 7.98457e-01 rs10013011 1.671324e-04
84 G A 1.0212741 4.98562e-03 rs10013020 7.544154e-03
85 G A 1.0104700 5.14170e-03 rs10013111 3.730212e-03
86 C A 0.9968492 1.22125e-01 rs10013187 -9.350611e-04
87 G A 1.0128378 1.61338e-07 rs1001329 4.778226e-03
88 G A 1.0086961 6.65569e-02 rs10013491 2.730121e-03
89 T C 0.9995908 8.45922e-01 rs10013834 -9.506494e-05
90 T C 0.9993177 7.37427e-01 rs10013836 -1.601723e-04
91 G T 1.0013409 7.35402e-01 rs10014189 3.145277e-04
92 G A 1.0042340 3.86558e-02 rs10014247 1.390887e-03
93 T C 0.9966972 2.38033e-01 rs1001434 -9.003734e-04
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1741 T C 0.9988671 6.14073e-01 rs10212997 -2.710470e-04
1742 C T 1.0040755 2.94064e-01 rs10213050 1.074640e-03
1743 A G 0.9989235 5.97362e-01 rs10213203 -2.583739e-04
1744 C T 1.0020735 5.94551e-01 rs10213433 4.971740e-04
1745 C T 1.0031955 1.88211e-01 rs10213635 8.962188e-04
1746 T C 0.9979666 5.27969e-01 rs10213829 -4.958223e-04
1747 G A 1.0079613 1.02038e-03 rs1021392 2.903650e-03
1748 G A 1.0058987 3.96198e-02 rs10214127 1.932851e-03
1749 G A 1.0068322 2.12396e-01 rs10214283 1.882149e-03
1750 C T 0.9986090 5.40889e-01 rs10214316 -3.380304e-04
1751 T C 1.0043355 1.84230e-01 rs1021442 1.218638e-03
1752 C T 1.0016668 4.71715e-01 rs10214575 4.117600e-04
1753 C T 1.0057311 2.79862e-02 rs1021465 1.920454e-03
1754 A C 0.9839728 3.11610e-02 rs10214716 -5.394589e-03
1755 G A 0.9913868 3.67113e-03 rs10215210 -3.118621e-03
1756 G A 0.9922830 1.44173e-04 rs10215263 -2.862963e-03
1757 T C 0.9972735 1.98247e-01 rs10215268 -7.616910e-04
1758 C T 1.0081534 1.00634e-02 rs10215692 2.856155e-03
1759 T C 1.0105011 6.95458e-02 rs10215818 3.280725e-03
1760 C T 0.9895769 2.51091e-04 rs10215958 -3.865653e-03
1761 T C 0.9979545 3.56468e-01 rs10215999 -5.264105e-04
1762 A C 0.9976582 5.38981e-01 rs10216320 -5.696021e-04
1763 T C 1.0003923 9.56516e-01 rs10216476 9.067892e-05
1764 A G 1.0022487 7.25118e-01 rs10216725 5.278768e-04
1765 C A 0.9960615 4.12294e-01 rs1021675 -9.939331e-04
1766 C T 1.0125724 1.59786e-02 rs10216766 4.318793e-03
1767 A G 1.0199315 2.25343e-02 rs10216889 6.711936e-03
1768 A G 1.0009290 7.32341e-01 rs10216904 2.180261e-04
1769 T C 0.9944983 8.87273e-02 rs1021718 -1.692276e-03
1770 T C 0.9897807 2.79659e-03 rs10217225 -3.719579e-03
1771 T C 1.0245383 4.65578e-03 rs10217283 8.700206e-03
1772 T C 1.0045903 1.13772e-01 rs10217334 1.367966e-03
1773 C T 0.9961473 6.80313e-02 rs10217342 -1.214736e-03
1774 T C 1.0127824 2.92481e-03 rs10217429 4.596215e-03
1775 A G 0.9940959 6.22008e-03 rs10217478 -2.111442e-03
1776 A G 0.9899594 1.10472e-06 rs1021753 -3.761914e-03
1777 C T 1.0044023 8.27867e-02 rs10217571 1.356818e-03
1778 T C 0.9975789 6.69106e-01 rs10218459 -5.742024e-04
1779 T G 1.0031948 7.10509e-01 rs10218526 7.510528e-04
1780 T C 1.0037598 4.01444e-01 rs10218544 9.487413e-04
1781 A G 1.0008724 6.68625e-01 rs1021873 2.065829e-04
1782 G A 1.0027119 2.95508e-01 rs10218784 7.150805e-04
1783 T G 0.9968931 5.82244e-01 rs10218848 -7.487759e-04
1784 G A 0.9985663 4.88565e-01 rs10218875 -3.530469e-04
1785 A G 0.9970694 1.93045e-01 rs10219117 -8.216773e-04
1786 T C 1.0002539 9.64083e-01 rs1021946 5.868657e-05
1787 G T 1.0113071 9.83007e-04 rs1021947 4.118310e-03
1788 C T 0.9990978 8.22713e-01 rs10219820 -2.100116e-04
1789 C T 0.9958782 1.65283e-01 rs10219913 -1.179827e-03
1790 G A 0.9923685 6.55905e-04 rs1022043 -2.813793e-03
1791 C T 0.9964915 9.26610e-02 rs1022077 -1.073327e-03
1792 A G 0.9959111 1.84646e-01 rs10220899 -1.153827e-03
1793 T G 0.9879816 6.68827e-02 rs10221046 -3.810818e-03
1794 C T 1.0049291 5.09915e-01 rs10221210 1.203138e-03
1795 C T 1.0081176 2.03434e-02 rs10221222 2.763860e-03
1796 C T 0.9923095 1.96399e-04 rs10221662 -2.850573e-03
1797 A G 0.9978156 7.28824e-01 rs10221752 -5.136970e-04
1798 C T 1.0024393 3.05509e-01 rs10221881 6.402463e-04
1799 T C 1.0000288 9.96122e-01 rs10221914 6.665576e-06
1800 T C 0.9929555 4.82629e-04 rs10222103 -2.601013e-03
1801 A G 1.0002937 9.63337e-01 rs10222119 6.786615e-05
1802 A G 0.9951149 4.67013e-01 rs10222263 -1.212384e-03
1803 C A 0.9981634 4.05483e-01 rs10222419 -4.640748e-04
1804 C T 1.0045169 2.77189e-02 rs10222793 1.515355e-03
1805 C T 0.9997073 9.51802e-01 rs1022280 -6.768714e-05
1806 T G 1.0021133 5.45768e-01 rs10222981 5.120596e-04
1807 T C 0.9973500 2.03345e-01 rs1022302 -7.377810e-04
1808 C T 1.0119166 6.90977e-08 rs1022308 4.449814e-03
1809 G A 0.9986724 7.93257e-01 rs10223531 -3.098931e-04
1810 C T 1.0019695 7.02376e-01 rs10223785 4.638014e-04
1811 T C 1.0203343 4.60793e-02 rs10223853 6.543199e-03
1812 A G 0.9908248 1.13745e-02 rs10224100 -3.228617e-03
1813 A G 1.0081997 1.07828e-01 rs1022445 2.453809e-03
1814 G A 0.9937555 4.41717e-02 rs10224567 -2.042552e-03
1815 T C 1.0041548 4.20544e-01 rs1022482 1.041397e-03
1816 C T 1.0052678 3.31209e-01 rs10225228 1.364954e-03
1817 G T 1.0080131 8.61406e-05 rs10225248 2.953183e-03
1818 A G 0.9968558 1.28527e-01 rs10225286 -9.276024e-04
1819 C T 1.0054566 9.14683e-03 rs10225292 1.919820e-03
1820 C A 1.0084268 5.72602e-05 rs10225502 3.107528e-03
1821 C T 1.0019262 6.02519e-01 rs1022574 4.611750e-04
1822 G T 1.0090828 3.63160e-01 rs10225796 2.318441e-03
1823 A G 1.0016100 8.59519e-01 rs10225894 3.733377e-04
1824 A G 0.9953280 5.06970e-01 rs1022601 -1.146741e-03
1825 A G 1.0050771 1.33315e-02 rs10226021 1.763507e-03
1826 T C 0.9949714 4.86036e-01 rs10226327 -1.241416e-03
1827 C T 1.0025862 7.41357e-01 rs10226684 6.058070e-04
1828 A C 1.0096104 5.06279e-03 rs10226831 3.426556e-03
1829 A G 1.0085423 2.24024e-01 rs1022686 2.334301e-03
1830 G A 1.0008945 8.17915e-01 rs10227167 2.081189e-04
1831 G A 1.0036760 7.16483e-02 rs10227232 1.149190e-03
1832 T C 0.9984969 6.80814e-01 rs10227587 -3.556858e-04
1833 T G 0.9935179 1.01215e-02 rs10227698 -2.286914e-03
1834 C T 1.0040932 5.47350e-01 rs10227750 9.904663e-04
1835 G T 0.9924412 9.17529e-02 rs10227814 -2.319433e-03
1836 C T 1.0024253 2.42729e-01 rs10228072 6.574848e-04
1837 C T 1.0114412 2.38845e-08 rs10228495 4.291485e-03
1838 C T 1.0044054 5.41395e-02 rs1022867 1.410805e-03
1839 C A 1.0002957 8.84883e-01 rs10228771 6.850821e-05
1840 A G 0.9982469 8.52325e-01 rs10228834 -4.073866e-04
1841 G A 1.0075831 5.64928e-03 rs10229066 2.699827e-03
1842 T C 0.9951193 2.40202e-02 rs1022907 -1.658341e-03
1843 G A 1.0050506 1.77996e-02 rs10229210 1.733152e-03
1844 G A 0.9973796 3.04281e-01 rs10229374 -6.899304e-04
1845 T C 0.9981084 5.87238e-01 rs10229375 -4.551438e-04
1846 T C 0.9960167 4.96076e-02 rs1022960 -1.289990e-03
1847 C T 0.9995226 8.31627e-01 rs10229603 -1.110336e-04
1848 G T 1.0029855 1.44826e-01 rs10229660 8.656367e-04
1849 G A 0.9944736 7.15446e-03 rs10229818 -1.968948e-03
1850 C A 1.0004485 8.35844e-01 rs1022986 1.042303e-04
1851 C T 0.9992413 7.70646e-01 rs10229866 -1.774504e-04
1852 A C 0.9933593 4.52806e-02 rs10229932 -2.168554e-03
1853 T C 1.0011338 5.93069e-01 rs10230113 2.720740e-04
1854 T G 1.0062030 1.87440e-01 rs10230120 1.738009e-03
1855 A G 1.0064650 3.51986e-03 rs10230193 2.324943e-03
1856 A C 0.9998951 9.66501e-01 rs10230228 -2.424195e-05
1857 C T 0.9958090 3.90332e-01 rs10230264 -1.065949e-03
1858 T G 0.9980926 5.06253e-01 rs1023035 -4.676063e-04
1859 A G 0.9876622 3.79742e-04 rs10230585 -4.572735e-03
1860 G A 1.0022290 4.27750e-01 rs10230629 5.579223e-04
1861 C T 1.0099263 3.17132e-01 rs10230752 2.581972e-03
1862 C T 0.9981434 6.29079e-01 rs10230846 -4.431616e-04
1863 G A 1.0088833 2.58756e-03 rs1023114 3.206177e-03
1864 A G 0.9949561 2.37037e-01 rs10231296 -1.376989e-03
1865 C T 1.0151502 1.66720e-10 rs10231308 5.879451e-03
1866 G T 1.0054558 7.86308e-03 rs10231585 1.928136e-03
1867 C T 0.9977847 3.62133e-01 rs10231641 -5.688951e-04
1868 A G 1.0062062 3.63679e-03 rs1023169 2.230894e-03
1869 C A 0.9887979 5.48214e-03 rs10232205 -4.028783e-03
1870 C T 1.0034454 1.11867e-01 rs1023264 1.029296e-03
1871 T G 1.0043124 3.63420e-01 rs10232919 1.103274e-03
1872 T C 0.9952549 4.67150e-02 rs10233240 -1.544415e-03
1873 G A 1.0045231 2.75045e-02 rs10233446 1.518097e-03
1874 T C 1.0038657 4.58468e-01 rs10233824 9.576098e-04
1875 G A 1.0079681 1.25654e-01 rs10233894 2.343899e-03
1876 T C 1.0025705 2.23035e-01 rs10234024 7.049517e-04
1877 T G 0.9902726 9.68008e-02 rs10234313 -2.971526e-03
1878 T C 1.0007614 8.68023e-01 rs10234335 1.765447e-04
1879 G A 1.0031941 1.31993e-01 rs10234430 9.364029e-04
1880 A G 0.9995051 8.30020e-01 rs10234439 -1.151173e-04
1881 A C 0.9973887 2.11265e-01 rs10234709 -7.232851e-04
1882 C T 1.0037625 1.33549e-01 rs10234736 1.101176e-03
1883 C T 0.9938935 2.25283e-02 rs10234816 -2.083169e-03
1884 G A 0.9923854 3.07002e-04 rs10234894 -2.817961e-03
1885 A C 1.0005183 8.65752e-01 rs10235102 1.202125e-04
1886 T C 0.9969110 3.01167e-01 rs1023524 -8.146815e-04
1887 T C 0.9997059 8.85918e-01 rs10235293 -6.816700e-05
1888 A G 1.0023944 2.83683e-01 rs10235404 6.351200e-04
1889 G A 1.0104035 1.69049e-05 rs10235480 3.840502e-03
1890 G A 1.0076225 1.95034e-01 rs10235568 2.123103e-03
1891 G A 1.0035853 8.01894e-02 rs10235709 1.108929e-03
1892 A G 0.9915091 9.57266e-02 rs10235949 -2.595202e-03
1893 G A 1.0026897 7.07904e-01 rs10235977 6.326963e-04
1894 A C 0.9878678 2.70978e-05 rs10236314 -4.526093e-03
1895 G A 0.9948106 7.77877e-02 rs10236324 -1.616895e-03
1896 A G 0.9974315 6.13234e-01 rs10236513 -6.150688e-04
1897 C T 1.0075790 1.90640e-03 rs10236525 2.748015e-03
1898 T C 0.9952169 1.83748e-02 rs10236588 -1.647051e-03
1899 T C 0.9967621 2.80772e-01 rs10236845 -8.625395e-04
1900 T G 0.9984297 8.35236e-01 rs10236852 -3.653244e-04
1901 A C 0.9912994 1.35427e-01 rs10237095 -2.558140e-03
1902 C T 1.0160745 2.88183e-07 rs10237170 5.963521e-03
1903 T G 1.0018338 3.80756e-01 rs10237306 4.666468e-04
1904 A G 0.9977199 3.12398e-01 rs10237467 -5.979869e-04
1905 A G 0.9995622 9.25462e-01 rs10237516 -1.013053e-04
1906 A G 0.9954096 2.38063e-02 rs1023766 -1.560237e-03
1907 A G 1.0029414 2.21977e-01 rs10237683 8.070419e-04
1908 C T 1.0112949 9.67587e-02 rs1023783 3.414453e-03
1909 G A 1.0005162 9.41217e-01 rs10237844 1.193447e-04
1910 T G 1.0014083 6.21417e-01 rs10238018 3.360662e-04
1911 T C 0.9941417 2.56461e-01 rs10238607 -1.582604e-03
1912 C T 0.9961269 6.51157e-02 rs10238654 -1.225990e-03
1913 G A 0.9910574 1.35606e-05 rs10239050 -3.334380e-03
1914 T C 0.9985850 6.62654e-01 rs10239671 -3.357574e-04
1915 C T 1.0021059 4.30466e-01 rs10240075 5.266661e-04
1916 G T 1.0013552 6.53319e-01 rs10240312 3.216042e-04
1917 T C 0.9881155 3.65691e-03 rs10240570 -4.310504e-03
1918 T C 0.9966059 2.50514e-01 rs10240715 -9.187743e-04
1919 G A 1.0050927 8.87304e-02 rs1024079 1.558186e-03
1920 T C 1.0085878 7.73856e-05 rs10240887 3.164785e-03
1921 T C 0.9975976 4.00829e-01 rs10240963 -6.082189e-04
1922 G A 0.9974489 2.25843e-01 rs10241033 -7.002185e-04
1923 C T 1.0015308 6.22702e-01 rs10241138 3.651879e-04
1924 T C 0.9959419 5.01825e-02 rs10241157 -1.313060e-03
1925 G A 1.0077725 5.41978e-02 rs10241316 2.484691e-03
1926 T C 1.0039943 5.10968e-02 rs10241433 1.285401e-03
1927 A G 0.9948675 1.14624e-02 rs10241557 -1.801902e-03
1928 G A 0.9939658 8.02034e-03 rs1024175 -2.143636e-03
1929 C T 0.9951463 2.16670e-02 rs1024177 -1.658080e-03
1930 C T 1.0058634 4.01950e-03 rs1024190 2.104203e-03
1931 C T 1.0051261 1.94196e-01 rs10241901 1.430368e-03
1932 T C 0.9963065 5.59376e-01 rs1024221 -8.947853e-04
1933 G A 0.9995807 8.55133e-01 rs10242229 -9.735794e-05
1934 G A 0.9905444 2.70846e-03 rs10242406 -3.441893e-03
1935 A G 0.9952727 1.52450e-01 rs10242439 -1.367352e-03
1936 C T 1.0062052 1.92925e-01 rs10242583 1.732037e-03
1937 A G 0.9952116 1.93404e-02 rs10242703 -1.644895e-03
1938 A G 1.0017033 8.22857e-01 rs10242829 3.959792e-04
1939 G A 1.0034212 3.56641e-01 rs10242863 8.780093e-04
1940 C T 0.9984665 7.29929e-01 rs10242914 -3.604449e-04
1941 G A 0.9992876 8.45370e-01 rs10242939 -1.655490e-04
1942 T C 0.9890758 2.72808e-01 rs10242979 -2.933182e-03
1943 A G 0.9952305 2.48426e-02 rs10243047 -1.617509e-03
1944 T C 0.9961888 3.50116e-01 rs10243081 -9.842132e-04
1945 A G 1.0017104 4.33096e-01 rs10243376 4.274738e-04
1946 A G 1.0042521 2.12007e-01 rs10243586 1.173173e-03
1947 T C 1.0109597 6.82765e-06 rs1024363 4.050338e-03
1948 A G 0.9898068 4.80182e-07 rs10243634 -3.826491e-03
1949 A G 0.9920851 2.73311e-04 rs1024371 -2.930837e-03
1950 G T 1.0094299 5.04951e-02 rs10243813 3.029242e-03
1951 G A 1.0086666 1.02782e-01 rs10244039 2.606509e-03
1952 G A 1.0024686 3.80487e-01 rs10244236 6.280555e-04
1953 A G 1.0012617 5.41513e-01 rs1024446 3.061547e-04
1954 C T 1.0020410 5.55443e-01 rs10244477 4.934816e-04
1955 C T 1.0066635 1.62438e-01 rs10244537 1.901321e-03
1956 T C 0.9943981 4.36024e-01 rs10244725 -1.403937e-03
1957 G A 0.9919731 1.27952e-02 rs1024507 -2.810855e-03
1958 C T 0.9958947 4.83611e-02 rs1024528 -1.332201e-03
1959 A G 1.0008611 9.04911e-01 rs10245522 1.992960e-04
1960 G A 0.9988296 6.25700e-01 rs10245725 -2.794322e-04
1961 C T 0.9976787 3.22022e-01 rs10246037 -6.061854e-04
1962 A G 0.9969847 1.44149e-01 rs1024608 -8.774268e-04
1963 C T 1.0006162 9.24669e-01 rs10246081 1.425107e-04
1964 T C 1.0060211 2.68126e-02 rs10246805 2.022348e-03
1965 A G 0.9955982 1.82396e-01 rs10246857 -1.244305e-03
1966 A G 1.0091573 3.32095e-01 rs10246862 2.367293e-03
1967 C T 1.0071073 5.25092e-04 rs10246939 2.604555e-03
1968 T C 1.0022106 5.38135e-01 rs1024698 5.365594e-04
1969 A G 0.9968923 1.93642e-01 rs10247152 -8.710559e-04
1970 C A 1.0103156 1.97990e-01 rs10247170 2.863674e-03
1971 T G 0.9983404 4.42487e-01 rs10247238 -4.142678e-04
1972 C T 0.9962235 1.42991e-01 rs10247426 -1.100410e-03
1973 T C 1.0040815 8.15681e-02 rs10247487 1.259976e-03
1974 A G 0.9974564 2.13376e-01 rs1024766 -7.035553e-04
1975 A G 0.9950093 6.16137e-02 rs10247874 -1.588367e-03
1976 A G 1.0018630 8.31239e-01 rs10247949 4.328003e-04
1977 A G 0.9993735 8.06108e-01 rs10248257 -1.460176e-04
1978 C T 1.0107795 2.14101e-06 rs1024843 3.991847e-03
1979 T C 0.9954638 2.57816e-02 rs10248542 -1.535054e-03
1980 T C 1.0039699 3.48805e-01 rs10248655 1.021776e-03
1981 T C 1.0007891 7.07067e-01 rs10248727 1.858102e-04
1982 A G 1.0003387 9.32885e-01 rs10249116 7.833776e-05
1983 T C 1.0052903 9.47629e-03 rs10249233 1.859423e-03
1984 C T 1.0030208 2.80311e-01 rs10249244 8.023805e-04
1985 T G 0.9969192 1.29251e-01 rs10249258 -9.082561e-04
1986 G A 1.0081211 4.09542e-01 rs10249369 2.039076e-03
1987 G A 1.0047767 7.02019e-02 rs10249403 1.495284e-03
1988 T C 0.9951871 3.71263e-01 rs10249418 -1.233205e-03
1989 C T 0.9949160 2.12725e-02 rs10249537 -1.738577e-03
1990 C A 1.0096382 4.90510e-03 rs10250080 3.438752e-03
1991 C T 0.9999569 9.83164e-01 rs10250329 -9.964713e-06
1992 C T 1.0109745 3.10674e-02 rs10250407 3.644939e-03
1993 G T 1.0029907 1.97205e-01 rs10250643 8.337031e-04
1994 G T 0.9942951 1.19230e-02 rs10250745 -2.000626e-03
1995 C A 1.0010407 8.54201e-01 rs10250792 2.414761e-04
1996 A G 0.9941796 3.30359e-02 rs10250847 -1.941876e-03
1997 C T 0.9966165 9.58539e-02 rs1025097 -1.031371e-03
1998 C T 1.0037441 5.55035e-01 rs10251069 9.045685e-04
1999 G A 1.0025321 6.48596e-01 rs10251075 6.010191e-04
2000 C A 1.0040255 4.87186e-01 rs10251233 9.889560e-04
2001 C A 0.9923400 3.47950e-04 rs10251375 -2.833396e-03
2002 C T 0.9988238 5.62635e-01 rs10251613 -2.843928e-04
2003 A G 1.0122203 1.88093e-06 rs10251932 4.523247e-03
2004 A G 0.9997752 9.51914e-01 rs10251987 -5.196737e-05
2005 C A 0.9974508 2.14186e-01 rs1025199 -7.047580e-04
2006 G A 1.0061731 2.75917e-03 rs10252085 2.228945e-03
2007 C A 0.9863034 1.51763e-02 rs10252101 -4.777609e-03
2008 A G 1.0034607 6.62593e-01 rs10252166 8.191955e-04
2009 A C 0.9989798 8.10864e-01 rs1025226 -2.377216e-04
2010 G A 0.9941596 3.96652e-01 rs10252280 -1.483341e-03
2011 G A 0.9997613 9.49198e-01 rs10252625 -5.519965e-05
2012 T C 0.9969181 3.49313e-01 rs10252753 -7.958587e-04
2013 C T 0.9997171 9.61888e-01 rs10253100 -6.541042e-05
2014 C T 1.0029987 4.28714e-01 rs10253230 7.500567e-04
2015 C T 0.9929421 5.55416e-03 rs10253231 -2.532301e-03
2016 C T 1.0008790 7.71387e-01 rs10253271 2.053912e-04
2017 T C 0.9941937 4.38641e-03 rs10253363 -2.092397e-03
2018 A G 0.9901997 4.24387e-04 rs10253610 -3.625781e-03
2019 G A 0.9915743 4.66548e-03 rs10253948 -3.036568e-03
2020 C T 1.0101960 7.44663e-02 rs10254628 3.165700e-03
2021 G T 0.9991123 7.09809e-01 rs10254640 -2.091200e-04
2022 C T 0.9943059 5.29959e-02 rs10254662 -1.835926e-03
2023 T C 0.9879915 1.68103e-08 rs10254856 -4.564809e-03
2024 C T 1.0005589 9.03556e-01 rs10254933 1.293734e-04
2025 A C 0.9994419 7.91451e-01 rs10255035 -1.302361e-04
2026 C T 1.0061219 1.80723e-01 rs10255081 1.723551e-03
2027 C A 1.0062298 4.62282e-01 rs10255106 1.539681e-03
2028 A G 1.0031053 4.47770e-01 rs1025512 7.720135e-04
2029 A G 1.0141407 1.02499e-03 rs10255129 5.141463e-03
2030 A G 0.9894329 1.81195e-07 rs10255272 -3.977937e-03
2031 C T 1.0032597 6.90525e-01 rs10255361 7.684062e-04
2032 G A 1.0073981 2.92410e-04 rs10255516 2.717871e-03
2033 C T 1.0035269 9.53463e-02 rs10255636 1.071962e-03
2034 T C 0.9767920 5.00291e-04 rs1025617 -8.637772e-03
2035 G A 0.9949979 2.40374e-02 rs10256181 -1.699624e-03
2036 G A 1.0081274 6.41763e-02 rs1025628 2.560602e-03
2037 A G 1.0036767 4.83105e-01 rs10256306 9.044559e-04
2038 G A 1.0027500 1.76894e-01 rs10256348 7.776815e-04
2039 A C 0.9971104 1.83037e-01 rs10256396 -8.158588e-04
2040 T C 0.9933874 8.95191e-02 rs10256560 -2.033279e-03
2041 A G 1.0049327 5.06370e-01 rs10256620 1.205114e-03
2042 A G 0.9971406 3.02867e-01 rs10256732 -7.534429e-04
2043 A G 1.0187847 1.26002e-06 rs10256801 6.935881e-03
2044 C T 0.9973980 3.37375e-01 rs10256887 -6.750833e-04
2045 C T 1.0048656 3.91580e-01 rs10257391 1.231390e-03
2046 G A 1.0024145 4.03985e-01 rs10257623 6.091308e-04
2047 A G 0.9983869 4.28973e-01 rs10257629 -4.043806e-04
2048 G A 0.9977339 6.01524e-01 rs1025770 -5.437975e-04
2049 T C 1.0047019 2.21371e-02 rs10257725 1.596811e-03
2050 A G 1.0161520 1.79673e-02 rs10257866 5.509913e-03
2051 G A 1.0186338 4.87863e-02 rs10257950 5.974820e-03
2052 T C 0.9979975 3.68100e-01 rs1025849 -5.130095e-04
2053 A G 0.9943742 1.30695e-02 rs10258719 -1.966086e-03
2054 T C 0.9917726 6.71707e-05 rs10258763 -3.058425e-03
2055 A G 1.0076002 1.86012e-01 rs10258977 2.130146e-03
2056 C A 0.9994889 9.07007e-01 rs10259110 -1.183557e-04
2057 G A 0.9974229 4.23693e-01 rs10259372 -6.474512e-04
2058 G T 1.0033853 1.09897e-01 rs10259432 1.013365e-03
2059 C T 0.9978400 2.89946e-01 rs1025964 -5.724799e-04
2060 T C 0.9989000 6.54498e-01 rs10259646 -2.613078e-04
2061 C T 0.9976779 2.63323e-01 rs10260017 -6.238937e-04
2062 A G 1.0087604 1.29779e-01 rs10260254 2.566253e-03
2063 G A 1.0039224 2.51393e-01 rs10261104 1.057383e-03
2064 C T 1.0025378 5.83865e-01 rs10261235 6.096895e-04
2065 C T 0.9978593 4.02584e-01 rs10261267 -5.415452e-04
2066 A G 0.9962305 7.50878e-02 rs1026135 -1.177626e-03
2067 G A 1.0079579 1.29444e-02 rs10261536 2.763278e-03
2068 T C 1.0072674 3.05345e-03 rs10261562 2.618555e-03
2069 C T 1.0082302 2.59482e-01 rs10261670 2.204182e-03
2070 T C 0.9993150 7.36082e-01 rs10262038 -1.608303e-04
2071 G A 0.9987096 5.73918e-01 rs10262042 -3.112497e-04
2072 T C 1.0025439 2.13025e-01 rs1026226 7.020290e-04
2073 A G 0.9956256 3.22604e-02 rs10262629 -1.460583e-03
2074 T G 1.0123402 4.70596e-04 rs10262899 4.513023e-03
2075 A G 0.9930030 1.87652e-02 rs10263072 -2.409713e-03
2076 G A 0.9966126 2.07266e-01 rs10263073 -9.410480e-04
2077 G A 1.0076584 4.60713e-03 rs10263270 2.738614e-03
2078 C T 0.9969705 1.95505e-01 rs1026345 -8.480432e-04
2079 G A 0.9937730 1.53757e-01 rs10263555 -1.800575e-03
2080 A G 1.0012053 5.70569e-01 rs10263609 2.905801e-04
2081 C T 1.0051492 6.90951e-02 rs10263639 1.613937e-03
2082 G T 0.9972713 1.79612e-01 rs10263643 -7.722428e-04
2083 A G 1.0003560 8.61343e-01 rs10263892 8.260666e-05
2084 C T 1.0042044 1.19736e-01 rs10264260 1.245972e-03
2085 T C 1.0065073 2.18035e-03 rs10264523 2.356806e-03
2086 G A 0.9965025 1.28309e-01 rs10264600 -1.032223e-03
2087 A C 0.9984058 5.35145e-01 rs10264621 -3.879696e-04
2088 A G 1.0061360 2.94020e-03 rs10264631 2.213455e-03
2089 G A 1.0020071 3.69604e-01 rs10264747 5.128410e-04
2090 A C 1.0051883 6.12009e-01 rs10264865 1.237916e-03
2091 A G 0.9960732 4.92371e-01 rs1026519 -9.672055e-04
2092 C A 0.9928044 4.23413e-02 rs10265394 -2.362083e-03
2093 G A 1.0092821 3.05836e-01 rs10266050 2.427674e-03
2094 A G 1.0025778 7.22411e-01 rs10266138 6.052377e-04
2095 G A 1.0046929 2.32820e-02 rs1026619 1.589561e-03
2096 A G 1.0038319 3.80028e-01 rs10266399 9.744012e-04
2097 A G 0.9988594 5.96730e-01 rs10266483 -2.738118e-04
2098 C T 1.0016483 6.53432e-01 rs10266589 3.911042e-04
2099 C T 1.0004391 8.29063e-01 rs10266729 1.020931e-04
2100 A G 0.9970144 1.88266e-01 rs10266737 -8.398872e-04
2101 C A 0.9910199 4.81350e-05 rs10267078 -3.341603e-03
2102 A G 0.9948333 3.38042e-01 rs10267211 -1.341866e-03
2103 A G 1.0019814 4.51720e-01 rs10267330 4.922883e-04
2104 A G 1.0011627 8.09785e-01 rs10267407 2.706745e-04
2105 T C 0.9958517 1.58939e-01 rs10267460 -1.193302e-03
2106 T C 1.0029453 2.31696e-01 rs10267476 8.033929e-04
2107 C T 1.0080187 9.56405e-05 rs10267576 2.954552e-03
2108 G T 0.9982668 7.62491e-01 rs10267839 -4.059103e-04
2109 C T 1.0013241 5.39002e-01 rs10267966 3.214732e-04
2110 G T 1.0004785 8.99295e-01 rs10268173 1.107924e-04
2111 C T 1.0054816 1.06462e-01 rs10268194 1.644912e-03
2112 C T 1.0073120 5.34058e-03 rs10268254 2.606978e-03
2113 G A 1.0145089 1.71522e-02 rs10268257 4.963858e-03
2114 A G 0.9999751 9.93081e-01 rs10268315 -5.751183e-06
2115 T C 1.0015117 4.60913e-01 rs10268338 3.746404e-04
2116 G A 0.9942228 1.21874e-02 rs10268421 -2.024407e-03
2117 A G 1.0061477 4.87908e-01 rs10268450 1.508438e-03
2118 A C 1.0120875 3.38797e-02 rs10268755 3.990448e-03
2119 A G 1.0051718 5.81291e-01 rs10268980 1.241529e-03
2120 T C 1.0108715 6.56731e-02 rs10269081 3.413488e-03
2121 G A 1.0108769 1.79093e-01 rs10269125 3.058645e-03
2122 G A 0.9960702 1.18909e-01 rs10269240 -1.170265e-03
2123 C T 1.0057249 2.51659e-01 rs10269381 1.541690e-03
2124 C T 0.9992876 9.27314e-01 rs1026946 -1.648646e-04
2125 G A 0.9894973 2.11683e-07 rs10269701 -3.951777e-03
2126 G T 0.9900443 1.67042e-04 rs1026975 -3.696199e-03
2127 A G 0.9969632 3.88885e-01 rs10269786 -7.723452e-04
2128 G A 1.0032530 2.22071e-01 rs10269853 8.923298e-04
2129 G A 1.0017281 4.96028e-01 rs10269990 4.240140e-04
2130 A G 0.9929010 2.93507e-01 rs1027025 -1.882890e-03
2131 T C 0.9948519 1.06819e-01 rs10270285 -1.552502e-03
2132 G A 0.9964593 6.94428e-01 rs10270380 -8.370373e-04
2133 C T 0.9934367 9.21193e-02 rs10270394 -2.012151e-03
2134 T C 0.9867049 8.23111e-03 rs10270509 -4.736868e-03
2135 G T 1.0005817 8.11007e-01 rs10270572 1.354395e-04
2136 G T 1.0031495 1.27314e-01 rs10270627 9.272596e-04
2137 G A 0.9983513 5.72037e-01 rs10270715 -3.979199e-04
2138 A G 0.9964014 3.41193e-01 rs10270747 -9.326349e-04
2139 C T 1.0037939 2.86940e-01 rs10270871 1.004009e-03
2140 C T 1.0051182 5.97507e-02 rs10270979 1.625013e-03
2141 C A 0.9975410 3.40460e-01 rs10271067 -6.371216e-04
2142 T C 1.0025174 7.28028e-01 rs10271222 5.906634e-04
2143 C A 1.0083125 5.81250e-02 rs10271311 2.641208e-03
2144 A G 1.0019693 6.24845e-01 rs10271435 4.695121e-04
2145 T C 0.9980013 4.29364e-01 rs10271601 -5.010723e-04
2146 A G 0.9961061 4.68671e-01 rs10271776 -9.654474e-04
2147 T C 0.9984633 4.50843e-01 rs10271785 -3.825837e-04
2148 A G 1.0078616 1.26645e-01 rs10271824 2.310583e-03
2149 C T 1.0036024 2.77552e-01 rs10271856 9.579137e-04
2150 C T 1.0001370 9.54812e-01 rs10272066 3.167779e-05
2151 G T 1.0034514 2.45988e-01 rs10272295 9.334627e-04
2152 T C 1.0086336 1.97966e-01 rs10272474 2.398782e-03
2153 C T 0.9967713 1.23732e-01 rs10272602 -9.567687e-04
2154 A G 1.0014908 5.85178e-01 rs1027267 3.582426e-04
2155 T G 0.9979770 3.20853e-01 rs1027277 -5.284661e-04
2156 A G 1.0023887 2.54332e-01 rs10272776 6.433894e-04
2157 G A 0.9932250 3.73499e-01 rs10272851 -1.736207e-03
2158 A G 0.9992546 8.94386e-01 rs10273017 -1.727262e-04
2159 G A 1.0014449 6.83008e-01 rs10273088 3.413019e-04
2160 C T 1.0148297 8.04049e-02 rs10273212 4.560087e-03
2161 C T 1.0000485 9.81722e-01 rs10273273 1.121859e-05
2162 T C 0.9968618 1.24396e-01 rs1027346 -9.293562e-04
2163 A G 1.0037316 1.04037e-01 rs10273536 1.123572e-03
2164 C T 0.9949678 1.65809e-02 rs10273668 -1.741086e-03
2165 A G 1.0000573 9.77698e-01 rs10273747 1.324901e-05
2166 G A 0.9977543 2.69206e-01 rs10273989 -6.014868e-04
2167 T C 0.9957907 1.97113e-01 rs10274223 -1.177714e-03
2168 T G 1.0060815 7.75410e-03 rs10274287 2.149468e-03
2169 C T 1.0023324 5.01932e-01 rs10274710 5.712349e-04
2170 C T 1.0002487 9.38333e-01 rs10274751 5.751594e-05
2171 T C 0.9997898 9.47929e-01 rs1027485 -4.859552e-05
2172 T C 0.9876155 2.30215e-02 rs10275030 -4.233452e-03
2173 C A 1.0021919 6.14254e-01 rs1027516 5.235513e-04
2174 A G 0.9978756 5.61480e-01 rs1027517 -5.140183e-04
2175 T C 1.0003228 8.74410e-01 rs10275497 7.484045e-05
2176 G A 1.0031572 3.67024e-01 rs1027554 8.070708e-04
2177 C T 0.9948917 5.13007e-02 rs10275615 -1.650856e-03
2178 G T 1.0068602 9.73697e-04 rs10275647 2.504333e-03
2179 G A 1.0003477 9.67384e-01 rs10275718 8.035633e-05
2180 G A 1.0035610 9.16160e-02 rs10275849 1.086813e-03
2181 T C 1.0066521 2.20027e-01 rs10276017 1.823965e-03
2182 T C 1.0025414 2.47298e-01 rs10276351 6.871485e-04
2183 T C 1.0073638 1.18580e-01 rs1027643 2.181272e-03
2184 A G 1.0054195 7.82981e-03 rs10276447 1.915586e-03
2185 T G 0.9997558 9.04728e-01 rs10276497 -5.655829e-05
2186 T C 0.9985380 7.70926e-01 rs1027655 -3.420353e-04
2187 G A 1.0026461 2.04303e-01 rs10276619 7.343053e-04
2188 A C 0.9934779 1.40043e-02 rs10276704 -2.274226e-03
2189 T G 0.9919777 5.76903e-02 rs10276934 -2.571543e-03
2190 C T 1.0139632 1.14361e-11 rs10276955 5.605860e-03
2191 T C 0.9944448 6.95355e-03 rs10277232 -1.980727e-03
2192 A G 1.0159585 4.03264e-11 rs10277483 6.293074e-03
2193 G A 0.9949292 3.03170e-02 rs10277969 -1.700255e-03
2194 A G 1.0020650 3.41786e-01 rs10278005 5.335223e-04
2195 G A 0.9980483 4.33676e-01 rs10278266 -4.886068e-04
2196 T C 0.9908477 7.81720e-06 rs1027837 -3.415808e-03
2197 C T 1.0210094 7.04778e-03 rs10278465 7.390115e-03
2198 C T 1.0032719 2.73402e-01 rs10278819 8.720105e-04
2199 A C 0.9883318 4.23424e-06 rs10279216 -4.364590e-03
2200 C A 0.9895327 3.58210e-04 rs10279370 -3.876818e-03
2201 G A 1.0022407 4.97006e-01 rs10279819 5.495052e-04
2202 A G 1.0026313 6.18871e-01 rs10279976 6.278187e-04
2203 G A 1.0132066 1.41968e-03 rs10280153 4.790259e-03
2204 T C 0.9916666 4.88065e-05 rs10280231 -3.099867e-03
2205 C T 1.0056780 5.42224e-03 rs10280295 2.025386e-03
2206 C T 1.0003300 9.05063e-01 rs10280299 7.639431e-05
2207 G A 1.0012746 5.87789e-01 rs10280353 3.061657e-04
2208 T C 1.0025973 2.26527e-01 rs10280414 7.107774e-04
2209 T C 0.9958930 5.87800e-02 rs10280445 -1.311822e-03
2210 C T 0.9979260 4.01532e-01 rs10280464 -5.248570e-04
2211 G T 0.9785768 2.51527e-05 rs10280596 -8.030927e-03
2212 C T 1.0033977 1.24663e-01 rs10280625 1.002668e-03
2213 C T 1.0021148 2.98486e-01 rs10280844 5.569958e-04
2214 T C 1.0081490 6.53616e-05 rs10280903 3.004740e-03
2215 G A 0.9974856 5.49511e-01 rs1028125 -6.101375e-04
2216 G A 1.0209098 4.96071e-03 rs10281407 7.417077e-03
2217 G T 1.0099553 1.06967e-04 rs10281536 3.663652e-03
2218 C T 1.0037133 5.83381e-01 rs10281587 8.916592e-04
2219 G A 1.0069025 4.47428e-01 rs1028167 1.712999e-03
2220 T C 1.0023854 3.54638e-01 rs1028178 6.129770e-04
2221 G A 0.9962934 6.73844e-01 rs1028180 -8.790041e-04
2222 G A 1.0084019 4.52637e-03 rs10282048 3.004483e-03
2223 C T 1.0090142 1.79846e-04 rs10282370 3.314343e-03
2224 A G 1.0148214 1.94523e-02 rs1028256 5.040545e-03
2225 G A 0.9979509 4.67921e-01 rs10282585 -5.076895e-04
2226 T C 1.0051130 2.26204e-02 rs1028260 1.734145e-03
2227 G T 1.0013482 7.10434e-01 rs10282667 3.172353e-04
2228 A G 1.0124759 5.04509e-02 rs10282669 4.001963e-03
2229 A G 1.0078431 9.80267e-02 rs10282734 2.371756e-03
2230 T C 1.0022565 5.16722e-01 rs10282776 5.505629e-04
2231 T C 0.9985249 8.30189e-01 rs10282841 -3.432743e-04
2232 C A 0.9943374 1.77536e-01 rs10282968 -1.607348e-03
2233 A G 0.9908582 3.84851e-02 rs10283100 -3.024278e-03
2234 T C 1.0009201 8.53747e-01 rs10283411 2.135149e-04
2235 T C 0.9980887 3.56144e-01 rs10283573 -4.919208e-04
2236 T C 1.0012200 8.79233e-01 rs10283576 2.826296e-04
2237 G A 1.0034503 9.13166e-02 rs1028378 1.053426e-03
2238 A G 0.9999270 9.71994e-01 rs1028394 -1.688272e-05
2239 A G 1.0090190 2.70088e-05 rs1028479 3.329261e-03
2240 G A 1.0030397 1.92696e-01 rs1028528 8.499305e-04
2241 T C 0.9997802 9.51277e-01 rs1028695 -5.081464e-05
2242 C T 1.0066824 4.31041e-03 rs1028705 2.393932e-03
2243 C T 0.9906308 2.45435e-05 rs1028752 -3.491008e-03
2244 A G 1.0030710 2.49226e-01 rs1028797 8.292305e-04
2245 G A 0.9974384 2.39092e-01 rs1028802 -6.976356e-04
2246 C T 0.9980586 5.88081e-01 rs1028818 -4.670491e-04
2247 G A 0.9987423 5.41844e-01 rs1028846 -3.055313e-04
2248 C T 0.9940863 2.13978e-01 rs1029180 -1.637883e-03
2249 A G 0.9997280 8.93601e-01 rs1029204 -6.302825e-05
2250 C A 1.0022570 4.53516e-01 rs1029258 5.603815e-04
2251 A G 1.0017742 4.13727e-01 rs1029260 4.462420e-04
2252 C T 1.0073510 3.78355e-04 rs1029273 2.697808e-03
2253 G A 1.0031998 1.16105e-01 rs1029409 9.520795e-04
2254 C T 0.9970742 4.22290e-01 rs1029452 -7.355365e-04
2255 G A 1.0049916 3.07870e-02 rs1029466 1.663706e-03
2256 G A 1.0066801 3.82995e-02 rs1029516 2.193193e-03
2257 A G 0.9978944 3.25728e-01 rs1029577 -5.488932e-04
2258 C T 0.9964910 2.24627e-01 rs1029731 -9.643193e-04
2259 T C 1.0006050 7.82547e-01 rs1030 1.412387e-04
2260 G A 0.9980531 5.41878e-01 rs1030126 -4.731393e-04
2261 C T 0.9994527 7.97947e-01 rs1030198 -1.276540e-04
2262 C T 1.0028444 1.64811e-01 rs1030343 8.116622e-04
2263 A G 1.0006270 9.41691e-01 rs10305301 1.449492e-04
2264 G A 1.0087177 1.40997e-01 rs10305443 2.528700e-03
2265 T C 1.0056786 3.07358e-01 rs10305483 1.486813e-03
2266 A G 0.9899663 2.17870e-01 rs10305492 -2.777974e-03
2267 T C 0.9861198 5.46120e-02 rs10305526 -4.482819e-03
2268 G A 0.9972739 1.81214e-01 rs1030588 -7.706306e-04
2269 C A 1.0133755 1.30851e-01 rs10305899 3.905437e-03
2270 T C 0.9921850 1.96908e-01 rs10305937 -2.190816e-03
2271 T C 0.9913905 1.58603e-01 rs1030603 -2.482852e-03
2272 T C 1.0068344 8.75351e-03 rs1030614 2.406172e-03
2273 A G 1.0014039 4.96152e-01 rs1030687 3.445274e-04
2274 G A 0.9942845 4.75597e-03 rs1030761 -2.056206e-03
2275 T C 1.0051932 5.47462e-01 rs1030986 1.255914e-03
2276 T G 1.0076594 5.70551e-03 rs1031092 2.726278e-03
2277 A G 1.0111389 2.72327e-07 rs1031105 4.143164e-03
2278 C T 0.9848032 3.29199e-13 rs1031107 -6.545744e-03
2279 A G 0.9989269 6.07492e-01 rs1031381 -2.570726e-04
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5479 T C 1.0064962 1.61349e-02 rs10891324 2.237339e-03
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16587 G A 0.9909199 1.59163e-01 rs114871608 -2.618045e-03
16588 C T 0.9917524 1.73818e-01 rs114871621 -2.350575e-03
16589 A G 1.0007907 9.35277e-01 rs114871811 1.828065e-04
16590 A G 1.0027350 5.86142e-01 rs114872182 6.567080e-04
16591 G T 1.0119916 2.70327e-02 rs114872540 4.013897e-03
16592 T C 0.9824825 2.07540e-02 rs114872596 -6.035578e-03
16593 T G 0.9980769 6.35021e-01 rs114873015 -4.585660e-04
16594 T C 1.0078245 3.38863e-01 rs114873088 2.018288e-03
16595 A G 0.9898879 1.81900e-01 rs114873218 -2.867773e-03
16596 C T 0.9974719 2.13480e-01 rs1148733 -6.992301e-04
16597 G A 0.9986946 7.83523e-01 rs114873710 -3.049921e-04
16598 C T 0.9910602 3.13788e-01 rs114873842 -2.350952e-03
16599 C T 1.0048744 3.82252e-01 rs114873866 1.237804e-03
16600 C T 0.9887858 1.06798e-01 rs114874322 -3.392273e-03
16601 G A 1.0009177 8.87491e-01 rs114874539 2.125431e-04
16602 A G 0.9934195 3.62981e-01 rs114875180 -1.693025e-03
16603 A C 1.0066489 4.01383e-01 rs114875320 1.675377e-03
16604 A C 0.9787160 1.95997e-03 rs114875442 -7.827495e-03
16605 A C 0.9954638 3.81408e-01 rs114875568 -1.157719e-03
16606 G A 0.9982783 8.27270e-01 rs114875812 -4.008137e-04
16607 T C 0.9977408 6.99398e-01 rs114876090 -5.333736e-04
16608 T C 0.9961193 6.01337e-01 rs114876548 -9.320381e-04
16609 T C 0.9847570 1.10575e-01 rs114877792 -4.602709e-03
16610 C T 1.0024354 3.74094e-01 rs1148783 6.211038e-04
16611 G T 0.9962924 4.26231e-01 rs114878305 -9.312225e-04
16612 G T 0.9858438 1.19147e-01 rs114878343 -4.236480e-03
16613 T C 0.9893981 2.21481e-01 rs114878349 -2.929572e-03
16614 A G 1.0034351 5.27848e-01 rs114878458 8.353445e-04
16615 T C 1.0050152 1.39122e-02 rs11487847 1.739143e-03
16616 A G 0.9997159 9.61211e-01 rs114878639 -6.568508e-05
16617 C A 1.0154256 1.35582e-02 rs114878641 5.327089e-03
16618 G A 0.9952700 4.46191e-01 rs114878836 -1.181131e-03
16619 T G 0.9926636 2.58049e-01 rs114878954 -1.981683e-03
16620 A G 0.9962320 6.64974e-01 rs114878961 -8.948185e-04
16621 G A 1.0088261 3.21171e-01 rs114878988 2.292925e-03
16622 G A 0.9870462 6.27005e-02 rs114879203 -4.132984e-03
16623 G A 1.0042530 4.97350e-01 rs114880185 1.041871e-03
16624 G T 0.9949444 5.10692e-01 rs114880853 -1.239940e-03
16625 A G 0.9991421 8.90317e-01 rs114881366 -1.988500e-04
16626 G A 1.0162767 1.04382e-02 rs114881676 5.672021e-03
16627 G A 1.0050472 4.45892e-01 rs114881854 1.254327e-03
16628 T G 1.0049957 2.99652e-01 rs114882201 1.313185e-03
16629 A G 0.9976213 6.60818e-01 rs114882666 -5.648685e-04
16630 A G 1.0034937 6.80774e-01 rs114882732 8.246593e-04
16631 C T 1.0087979 3.10713e-01 rs114884085 2.296426e-03
16632 T C 1.0089211 2.16299e-01 rs114884516 2.449012e-03
16633 G A 1.0058704 2.31864e-01 rs114884694 1.598759e-03
16634 G A 0.9942657 2.28010e-01 rs114885230 -1.574400e-03
16635 C T 0.9885991 1.98141e-01 rs114885407 -3.199195e-03
16636 C A 0.9891999 4.45294e-02 rs114885688 -3.538635e-03
16637 A C 0.9910394 2.09396e-01 rs114885848 -2.492851e-03
16638 A G 1.0117227 5.06705e-02 rs114887162 3.760463e-03
16639 A C 0.9952081 5.43514e-01 rs114887415 -1.165731e-03
16640 T C 0.9998170 9.76508e-01 rs114887545 -4.230375e-05
16641 T G 1.0085414 1.00212e-01 rs114887613 2.575993e-03
16642 C T 1.0111632 1.75899e-01 rs114887889 3.146023e-03
16643 G A 0.9926939 4.14171e-01 rs114888185 -1.845739e-03
16644 G A 1.0091886 3.04867e-01 rs114889031 2.404413e-03
16645 A C 1.0034649 5.52023e-01 rs114889166 8.377909e-04
16646 A G 0.9825644 8.18281e-02 rs114889225 -5.439335e-03
16647 T C 1.0167285 9.37310e-03 rs114889332 5.848481e-03
16648 G A 0.9992291 8.85336e-01 rs114889417 -1.787171e-04
16649 A G 1.0037050 4.09306e-01 rs114889729 9.323809e-04
16650 T C 1.0060332 4.07632e-01 rs114889916 1.517398e-03
16651 T C 0.9901798 1.20811e-01 rs114890046 -2.927791e-03
16652 A G 0.9932118 3.86532e-01 rs114890113 -1.731187e-03
16653 G T 1.0087889 1.46370e-01 rs114890523 2.537721e-03
16654 A G 1.0052318 3.93439e-01 rs114890559 1.322953e-03
16655 T C 1.0132211 7.75225e-02 rs114890682 4.083116e-03
16656 T C 0.9893393 7.68850e-02 rs114891437 -3.334511e-03
16657 G A 1.0113292 2.50999e-01 rs114891493 3.043539e-03
16658 A G 1.0075664 2.94631e-01 rs114891756 1.991131e-03
16659 T G 0.9855875 1.24610e-01 rs114892592 -4.291575e-03
16660 C T 0.9850880 2.11245e-02 rs114892606 -5.126567e-03
16661 T C 0.9912830 6.52525e-02 rs114893435 -2.765511e-03
16662 A G 1.0191776 1.57415e-03 rs114893502 6.928337e-03
16663 A G 0.9983386 7.74195e-01 rs114893558 -3.886001e-04
16664 G A 1.0159765 7.67888e-02 rs114893655 4.931843e-03
16665 C T 1.0104424 1.20396e-01 rs114893996 3.083132e-03
16666 A G 0.9948595 3.95543e-01 rs114894298 -1.305635e-03
[ reached 'max' / getOption("max.print") -- omitted 156212 rows ]
PLINK v1.90b7.2 64-bit (11 Dec 2023) www.cog-genomics.org/plink/1.9/
(C) 2005-2023 Shaun Purcell, Christopher Chang GNU General Public License v3
Logging to SampleData1/Fold_0/EBPRS/train_data.log.
Options in effect:
--bfile SampleData1/Fold_0/train_data.QC
--extract SampleData1/Fold_0/train_data.valid.snp
--out SampleData1/Fold_0/EBPRS/train_data
--q-score-range SampleData1/Fold_0/range_list SampleData1/Fold_0/SNP.pvalue
--score SampleData1/Fold_0/newEBPRS.txt 1 2 3 header
63761 MB RAM detected; reserving 31880 MB for main workspace.
491952 variants loaded from .bim file.
380 people (183 males, 197 females) loaded from .fam.
380 phenotype values loaded from .fam.
--extract: 172878 variants remaining.
Using 1 thread (no multithreaded calculations invoked).
Before main variant filters, 380 founders and 0 nonfounders present.
Calculating allele frequencies... 10111213141516171819202122232425262728293031323334353637383940414243444546474849505152535455565758596061626364656667686970717273747576777879808182838485868788899091929394959697989 done.
Total genotyping rate is 0.999891.
172878 variants and 380 people pass filters and QC.
Phenotype data is quantitative.
--score: 172878 valid predictors loaded.
Warning: 326740 lines skipped in --q-score-range data file.
--score: 20 ranges processed.
Results written to SampleData1/Fold_0/EBPRS/train_data.*.profile.
PLINK v1.90b7.2 64-bit (11 Dec 2023) www.cog-genomics.org/plink/1.9/
(C) 2005-2023 Shaun Purcell, Christopher Chang GNU General Public License v3
Logging to SampleData1/Fold_0/EBPRS/test_data.log.
Options in effect:
--bfile SampleData1/Fold_0/test_data
--extract SampleData1/Fold_0/train_data.valid.snp
--out SampleData1/Fold_0/EBPRS/test_data
--q-score-range SampleData1/Fold_0/range_list SampleData1/Fold_0/SNP.pvalue
--score SampleData1/Fold_0/newEBPRS.txt 1 2 3 header
63761 MB RAM detected; reserving 31880 MB for main workspace.
551892 variants loaded from .bim file.
95 people (44 males, 51 females) loaded from .fam.
95 phenotype values loaded from .fam.
--extract: 172878 variants remaining.
Using 1 thread (no multithreaded calculations invoked).
Before main variant filters, 95 founders and 0 nonfounders present.
Calculating allele frequencies... 10111213141516171819202122232425262728293031323334353637383940414243444546474849505152535455565758596061626364656667686970717273747576777879808182838485868788899091929394959697989 done.
Total genotyping rate is 0.999891.
172878 variants and 95 people pass filters and QC.
Phenotype data is quantitative.
--score: 172878 valid predictors loaded.
Warning: 326740 lines skipped in --q-score-range data file.
--score: 20 ranges processed.
Results written to SampleData1/Fold_0/EBPRS/test_data.*.profile.
Continous Phenotype!
Repeat the process for each fold.#
Change the foldnumber
variable.
#foldnumber = sys.argv[1]
foldnumber = "0" # Setting 'foldnumber' to "0"
Or uncomment the following line:
# foldnumber = sys.argv[1]
python EBPRS.py 0
python EBPRS.py 1
python EBPRS.py 2
python EBPRS.py 3
python EBPRS.py 4
The following files should exist after the execution:
SampleData1/Fold_0/EBPRS/Results.csv
SampleData1/Fold_1/EBPRS/Results.csv
SampleData1/Fold_2/EBPRS/Results.csv
SampleData1/Fold_3/EBPRS/Results.csv
SampleData1/Fold_4/EBPRS/Results.csv
Check the results file for each fold.#
import os
# List of file names to check for existence
f = [
"./"+filedirec+"/Fold_0"+os.sep+result_directory+"Results.csv",
"./"+filedirec+"/Fold_1"+os.sep+result_directory+"Results.csv",
"./"+filedirec+"/Fold_2"+os.sep+result_directory+"Results.csv",
"./"+filedirec+"/Fold_3"+os.sep+result_directory+"Results.csv",
"./"+filedirec+"/Fold_4"+os.sep+result_directory+"Results.csv",
]
# Loop through each file name in the list
for loop in range(0,5):
# Check if the file exists in the specified directory for the given fold
if os.path.exists(filedirec+os.sep+"Fold_"+str(loop)+os.sep+result_directory+os.sep+"Results.csv"):
temp = pd.read_csv(filedirec+os.sep+"Fold_"+str(loop)+os.sep+result_directory+os.sep+"Results.csv")
print("Fold_",loop, "Yes, the file exists.")
#print(temp.head())
print("Number of P-values processed: ",len(temp))
# Print a message indicating that the file exists
else:
# Print a message indicating that the file does not exist
print("Fold_",loop, "No, the file does not exist.")
Fold_ 0 Yes, the file exists.
Number of P-values processed: 20
Fold_ 1 Yes, the file exists.
Number of P-values processed: 20
Fold_ 2 Yes, the file exists.
Number of P-values processed: 20
Fold_ 3 Yes, the file exists.
Number of P-values processed: 20
Fold_ 4 Yes, the file exists.
Number of P-values processed: 20
Sum the results for each fold.#
print("We have to ensure when we sum the entries across all Folds, the same rows are merged!")
def sum_and_average_columns(data_frames):
"""Sum and average numerical columns across multiple DataFrames, and keep non-numerical columns unchanged."""
# Initialize DataFrame to store the summed results for numerical columns
summed_df = pd.DataFrame()
non_numerical_df = pd.DataFrame()
for df in data_frames:
# Identify numerical and non-numerical columns
numerical_cols = df.select_dtypes(include=[np.number]).columns
non_numerical_cols = df.select_dtypes(exclude=[np.number]).columns
# Sum numerical columns
if summed_df.empty:
summed_df = pd.DataFrame(0, index=range(len(df)), columns=numerical_cols)
summed_df[numerical_cols] = summed_df[numerical_cols].add(df[numerical_cols], fill_value=0)
# Keep non-numerical columns (take the first non-numerical entry for each column)
if non_numerical_df.empty:
non_numerical_df = df[non_numerical_cols]
else:
non_numerical_df[non_numerical_cols] = non_numerical_df[non_numerical_cols].combine_first(df[non_numerical_cols])
# Divide the summed values by the number of dataframes to get the average
averaged_df = summed_df / len(data_frames)
# Combine numerical and non-numerical DataFrames
result_df = pd.concat([averaged_df, non_numerical_df], axis=1)
return result_df
from functools import reduce
import os
import pandas as pd
from functools import reduce
def find_common_rows(allfoldsframe):
# Define the performance columns that need to be excluded
performance_columns = [
'Train_null_model', 'Train_pure_prs', 'Train_best_model',
'Test_pure_prs', 'Test_null_model', 'Test_best_model'
]
important_columns = [
'clump_p1',
'clump_r2',
'clump_kb',
'p_window_size',
'p_slide_size',
'p_LD_threshold',
'pvalue',
'referencepanel',
'PRSice-2_Model',
'effectsizes',
'h2model',
'model',
'numberofpca',
'tempalpha',
'l1weight',
]
# Function to remove performance columns from a DataFrame
def drop_performance_columns(df):
return df.drop(columns=performance_columns, errors='ignore')
def get_important_columns(df ):
existing_columns = [col for col in important_columns if col in df.columns]
if existing_columns:
return df[existing_columns].copy()
else:
return pd.DataFrame()
# Drop performance columns from all DataFrames in the list
allfoldsframe_dropped = [drop_performance_columns(df) for df in allfoldsframe]
# Get the important columns.
allfoldsframe_dropped = [get_important_columns(df) for df in allfoldsframe_dropped]
# Iteratively find common rows and track unique and common rows
common_rows = allfoldsframe_dropped[0]
for i in range(1, len(allfoldsframe_dropped)):
# Get the next DataFrame
next_df = allfoldsframe_dropped[i]
# Count unique rows in the current DataFrame and the next DataFrame
unique_in_common = common_rows.shape[0]
unique_in_next = next_df.shape[0]
# Find common rows between the current common_rows and the next DataFrame
common_rows = pd.merge(common_rows, next_df, how='inner')
# Count the common rows after merging
common_count = common_rows.shape[0]
# Print the unique and common row counts
print(f"Iteration {i}:")
print(f"Unique rows in current common DataFrame: {unique_in_common}")
print(f"Unique rows in next DataFrame: {unique_in_next}")
print(f"Common rows after merge: {common_count}\n")
# Now that we have the common rows, extract these from the original DataFrames
extracted_common_rows_frames = []
for original_df in allfoldsframe:
# Merge the common rows with the original DataFrame, keeping only the rows that match the common rows
extracted_common_rows = pd.merge(common_rows, original_df, how='inner', on=common_rows.columns.tolist())
# Add the DataFrame with the extracted common rows to the list
extracted_common_rows_frames.append(extracted_common_rows)
# Print the number of rows in the common DataFrames
for i, df in enumerate(extracted_common_rows_frames):
print(f"DataFrame {i + 1} with extracted common rows has {df.shape[0]} rows.")
# Return the list of DataFrames with extracted common rows
return extracted_common_rows_frames
# Example usage (assuming allfoldsframe is populated as shown earlier):
allfoldsframe = []
# Loop through each file name in the list
for loop in range(0, 5):
# Check if the file exists in the specified directory for the given fold
file_path = os.path.join(filedirec, "Fold_" + str(loop), result_directory, "Results.csv")
if os.path.exists(file_path):
allfoldsframe.append(pd.read_csv(file_path))
# Print a message indicating that the file exists
print("Fold_", loop, "Yes, the file exists.")
else:
# Print a message indicating that the file does not exist
print("Fold_", loop, "No, the file does not exist.")
# Find the common rows across all folds and return the list of extracted common rows
extracted_common_rows_list = find_common_rows(allfoldsframe)
# Sum the values column-wise
# For string values, do not sum it the values are going to be the same for each fold.
# Only sum the numeric values.
divided_result = sum_and_average_columns(extracted_common_rows_list)
print(divided_result)
We have to ensure when we sum the entries across all Folds, the same rows are merged!
Fold_ 0 Yes, the file exists.
Fold_ 1 Yes, the file exists.
Fold_ 2 Yes, the file exists.
Fold_ 3 Yes, the file exists.
Fold_ 4 Yes, the file exists.
Iteration 1:
Unique rows in current common DataFrame: 20
Unique rows in next DataFrame: 20
Common rows after merge: 18
Iteration 2:
Unique rows in current common DataFrame: 18
Unique rows in next DataFrame: 20
Common rows after merge: 18
Iteration 3:
Unique rows in current common DataFrame: 18
Unique rows in next DataFrame: 20
Common rows after merge: 18
Iteration 4:
Unique rows in current common DataFrame: 18
Unique rows in next DataFrame: 20
Common rows after merge: 18
DataFrame 1 with extracted common rows has 18 rows.
DataFrame 2 with extracted common rows has 18 rows.
DataFrame 3 with extracted common rows has 18 rows.
DataFrame 4 with extracted common rows has 18 rows.
DataFrame 5 with extracted common rows has 18 rows.
clump_p1 clump_r2 clump_kb p_window_size p_slide_size p_LD_threshold \
0 1.0 0.1 200.0 200.0 50.0 0.25
1 1.0 0.1 200.0 200.0 50.0 0.25
2 1.0 0.1 200.0 200.0 50.0 0.25
3 1.0 0.1 200.0 200.0 50.0 0.25
4 1.0 0.1 200.0 200.0 50.0 0.25
5 1.0 0.1 200.0 200.0 50.0 0.25
6 1.0 0.1 200.0 200.0 50.0 0.25
7 1.0 0.1 200.0 200.0 50.0 0.25
8 1.0 0.1 200.0 200.0 50.0 0.25
9 1.0 0.1 200.0 200.0 50.0 0.25
10 1.0 0.1 200.0 200.0 50.0 0.25
11 1.0 0.1 200.0 200.0 50.0 0.25
12 1.0 0.1 200.0 200.0 50.0 0.25
13 1.0 0.1 200.0 200.0 50.0 0.25
14 1.0 0.1 200.0 200.0 50.0 0.25
15 1.0 0.1 200.0 200.0 50.0 0.25
16 1.0 0.1 200.0 200.0 50.0 0.25
17 1.0 0.1 200.0 200.0 50.0 0.25
pvalue numberofpca tempalpha l1weight Train_pure_prs \
0 3.359818e-10 6.0 0.1 0.1 0.000043
1 1.128838e-09 6.0 0.1 0.1 0.000042
2 3.792690e-09 6.0 0.1 0.1 0.000041
3 1.274275e-08 6.0 0.1 0.1 0.000037
4 4.281332e-08 6.0 0.1 0.1 0.000030
5 1.438450e-07 6.0 0.1 0.1 0.000026
6 4.832930e-07 6.0 0.1 0.1 0.000021
7 1.623777e-06 6.0 0.1 0.1 0.000020
8 1.832981e-05 6.0 0.1 0.1 0.000017
9 6.158482e-05 6.0 0.1 0.1 0.000014
10 2.069138e-04 6.0 0.1 0.1 0.000012
11 6.951928e-04 6.0 0.1 0.1 0.000011
12 2.335721e-03 6.0 0.1 0.1 0.000009
13 7.847600e-03 6.0 0.1 0.1 0.000007
14 2.636651e-02 6.0 0.1 0.1 0.000005
15 8.858668e-02 6.0 0.1 0.1 0.000003
16 2.976351e-01 6.0 0.1 0.1 0.000002
17 1.000000e+00 6.0 0.1 0.1 0.000001
Train_null_model Train_best_model Test_pure_prs Test_null_model \
0 0.229763 0.237779 -0.000012 0.078616
1 0.229763 0.238945 -0.000010 0.078616
2 0.229763 0.241839 0.000003 0.078616
3 0.229763 0.244976 0.000008 0.078616
4 0.229763 0.245109 0.000005 0.078616
5 0.229763 0.247779 0.000006 0.078616
6 0.229763 0.249508 0.000005 0.078616
7 0.229763 0.254891 0.000007 0.078616
8 0.229763 0.275287 0.000009 0.078616
9 0.229763 0.278951 0.000008 0.078616
10 0.229763 0.290186 0.000008 0.078616
11 0.229763 0.298194 0.000007 0.078616
12 0.229763 0.311719 0.000007 0.078616
13 0.229763 0.318982 0.000006 0.078616
14 0.229763 0.330414 0.000005 0.078616
15 0.229763 0.335437 0.000003 0.078616
16 0.229763 0.342964 0.000002 0.078616
17 0.229763 0.344390 0.000001 0.078616
Test_best_model
0 0.065095
1 0.066808
2 0.067408
3 0.071577
4 0.074559
5 0.079972
6 0.081810
7 0.085411
8 0.103774
9 0.103917
10 0.111862
11 0.125327
12 0.149255
13 0.164274
14 0.188593
15 0.198925
16 0.220090
17 0.227163
Results#
1. Reporting Based on Best Training Performance:#
One can report the results based on the best performance of the training data. For example, if for a specific combination of hyperparameters, the training performance is high, report the corresponding test performance.
Example code:
df = divided_result.sort_values(by='Train_best_model', ascending=False) print(df.iloc[0].to_markdown())
Binary Phenotypes Result Analysis#
You can find the performance quality for binary phenotype using the following template:
This figure shows the 8 different scenarios that can exist in the results, and the following table explains each scenario.
We classified performance based on the following table:
Performance Level |
Range |
---|---|
Low Performance |
0 to 0.5 |
Moderate Performance |
0.6 to 0.7 |
High Performance |
0.8 to 1 |
You can match the performance based on the following scenarios:
Scenario |
What’s Happening |
Implication |
---|---|---|
High Test, High Train |
The model performs well on both training and test datasets, effectively learning the underlying patterns. |
The model is well-tuned, generalizes well, and makes accurate predictions on both datasets. |
High Test, Moderate Train |
The model generalizes well but may not be fully optimized on training data, missing some underlying patterns. |
The model is fairly robust but may benefit from further tuning or more training to improve its learning. |
High Test, Low Train |
An unusual scenario, potentially indicating data leakage or overestimation of test performance. |
The model’s performance is likely unreliable; investigate potential data issues or random noise. |
Moderate Test, High Train |
The model fits the training data well but doesn’t generalize as effectively, capturing only some test patterns. |
The model is slightly overfitting; adjustments may be needed to improve generalization on unseen data. |
Moderate Test, Moderate Train |
The model shows balanced but moderate performance on both datasets, capturing some patterns but missing others. |
The model is moderately fitting; further improvements could be made in both training and generalization. |
Moderate Test, Low Train |
The model underperforms on training data and doesn’t generalize well, leading to moderate test performance. |
The model may need more complexity, additional features, or better training to improve on both datasets. |
Low Test, High Train |
The model overfits the training data, performing poorly on the test set. |
The model doesn’t generalize well; simplifying the model or using regularization may help reduce overfitting. |
Low Test, Low Train |
The model performs poorly on both training and test datasets, failing to learn the data patterns effectively. |
The model is underfitting; it may need more complexity, additional features, or more data to improve performance. |
Recommendations for Publishing Results#
When publishing results, scenarios with moderate train and moderate test performance can be used for complex phenotypes or diseases. However, results showing high train and moderate test, high train and high test, and moderate train and high test are recommended.
For most phenotypes, results typically fall in the moderate train and moderate test performance category.
Continuous Phenotypes Result Analysis#
You can find the performance quality for continuous phenotypes using the following template:
This figure shows the 8 different scenarios that can exist in the results, and the following table explains each scenario.
We classified performance based on the following table:
Performance Level |
Range |
---|---|
Low Performance |
0 to 0.2 |
Moderate Performance |
0.3 to 0.7 |
High Performance |
0.8 to 1 |
You can match the performance based on the following scenarios:
Scenario |
What’s Happening |
Implication |
---|---|---|
High Test, High Train |
The model performs well on both training and test datasets, effectively learning the underlying patterns. |
The model is well-tuned, generalizes well, and makes accurate predictions on both datasets. |
High Test, Moderate Train |
The model generalizes well but may not be fully optimized on training data, missing some underlying patterns. |
The model is fairly robust but may benefit from further tuning or more training to improve its learning. |
High Test, Low Train |
An unusual scenario, potentially indicating data leakage or overestimation of test performance. |
The model’s performance is likely unreliable; investigate potential data issues or random noise. |
Moderate Test, High Train |
The model fits the training data well but doesn’t generalize as effectively, capturing only some test patterns. |
The model is slightly overfitting; adjustments may be needed to improve generalization on unseen data. |
Moderate Test, Moderate Train |
The model shows balanced but moderate performance on both datasets, capturing some patterns but missing others. |
The model is moderately fitting; further improvements could be made in both training and generalization. |
Moderate Test, Low Train |
The model underperforms on training data and doesn’t generalize well, leading to moderate test performance. |
The model may need more complexity, additional features, or better training to improve on both datasets. |
Low Test, High Train |
The model overfits the training data, performing poorly on the test set. |
The model doesn’t generalize well; simplifying the model or using regularization may help reduce overfitting. |
Low Test, Low Train |
The model performs poorly on both training and test datasets, failing to learn the data patterns effectively. |
The model is underfitting; it may need more complexity, additional features, or more data to improve performance. |
Recommendations for Publishing Results#
When publishing results, scenarios with moderate train and moderate test performance can be used for complex phenotypes or diseases. However, results showing high train and moderate test, high train and high test, and moderate train and high test are recommended.
For most continuous phenotypes, results typically fall in the moderate train and moderate test performance category.
2. Reporting Generalized Performance:#
One can also report the generalized performance by calculating the difference between the training and test performance, and the sum of the test and training performance. Report the result or hyperparameter combination for which the sum is high and the difference is minimal.
Example code:
df = divided_result.copy() df['Difference'] = abs(df['Train_best_model'] - df['Test_best_model']) df['Sum'] = df['Train_best_model'] + df['Test_best_model'] sorted_df = df.sort_values(by=['Sum', 'Difference'], ascending=[False, True]) print(sorted_df.iloc[0].to_markdown())
3. Reporting Hyperparameters Affecting Test and Train Performance:#
Find the hyperparameters that have more than one unique value and calculate their correlation with the following columns to understand how they are affecting the performance of train and test sets:
Train_null_model
Train_pure_prs
Train_best_model
Test_pure_prs
Test_null_model
Test_best_model
4. Other Analysis#
Once you have the results, you can find how hyperparameters affect the model performance.
Analysis, like overfitting and underfitting, can be performed as well.
The way you are going to report the results can vary.
Results can be visualized, and other patterns in the data can be explored.
import pandas as pd
import seaborn as sns
import matplotlib.pyplot as plt
%matplotlib notebook
import matplotlib
import numpy as np
import matplotlib.pyplot as plt
df = divided_result.sort_values(by='Train_best_model', ascending=False)
print("1. Reporting Based on Best Training Performance:\n")
print(df.iloc[0].to_markdown())
df = divided_result.copy()
# Plot Train and Test best models against p-values
plt.figure(figsize=(10, 6))
plt.plot(df['pvalue'], df['Train_best_model'], label='Train_best_model', marker='o', color='royalblue')
plt.plot(df['pvalue'], df['Test_best_model'], label='Test_best_model', marker='o', color='darkorange')
# Highlight the p-value where both train and test are high
best_index = df[['Train_best_model']].sum(axis=1).idxmax()
best_pvalue = df.loc[best_index, 'pvalue']
best_train = df.loc[best_index, 'Train_best_model']
best_test = df.loc[best_index, 'Test_best_model']
# Use dark colors for the circles
plt.scatter(best_pvalue, best_train, color='darkred', s=100, label=f'Best Performance (Train)', edgecolor='black', zorder=5)
plt.scatter(best_pvalue, best_test, color='darkblue', s=100, label=f'Best Performance (Test)', edgecolor='black', zorder=5)
# Annotate the best performance with p-value, train, and test values
plt.text(best_pvalue, best_train, f'p={best_pvalue:.4g}\nTrain={best_train:.4g}', ha='right', va='bottom', fontsize=9, color='darkred')
plt.text(best_pvalue, best_test, f'p={best_pvalue:.4g}\nTest={best_test:.4g}', ha='right', va='top', fontsize=9, color='darkblue')
# Calculate Difference and Sum
df['Difference'] = abs(df['Train_best_model'] - df['Test_best_model'])
df['Sum'] = df['Train_best_model'] + df['Test_best_model']
# Sort the DataFrame
sorted_df = df.sort_values(by=['Sum', 'Difference'], ascending=[False, True])
#sorted_df = df.sort_values(by=[ 'Difference','Sum'], ascending=[ True,False])
# Highlight the general performance
general_index = sorted_df.index[0]
general_pvalue = sorted_df.loc[general_index, 'pvalue']
general_train = sorted_df.loc[general_index, 'Train_best_model']
general_test = sorted_df.loc[general_index, 'Test_best_model']
plt.scatter(general_pvalue, general_train, color='darkgreen', s=150, label='General Performance (Train)', edgecolor='black', zorder=6)
plt.scatter(general_pvalue, general_test, color='darkorange', s=150, label='General Performance (Test)', edgecolor='black', zorder=6)
# Annotate the general performance with p-value, train, and test values
plt.text(general_pvalue, general_train, f'p={general_pvalue:.4g}\nTrain={general_train:.4g}', ha='left', va='bottom', fontsize=9, color='darkgreen')
plt.text(general_pvalue, general_test, f'p={general_pvalue:.4g}\nTest={general_test:.4g}', ha='left', va='top', fontsize=9, color='darkorange')
# Add labels and legend
plt.xlabel('p-value')
plt.ylabel('Model Performance')
plt.title('Train vs Test Best Models')
plt.legend()
plt.show()
print("2. Reporting Generalized Performance:\n")
df = divided_result.copy()
df['Difference'] = abs(df['Train_best_model'] - df['Test_best_model'])
df['Sum'] = df['Train_best_model'] + df['Test_best_model']
sorted_df = df.sort_values(by=['Sum', 'Difference'], ascending=[False, True])
print(sorted_df.iloc[0].to_markdown())
print("3. Reporting the correlation of hyperparameters and the performance of 'Train_null_model', 'Train_pure_prs', 'Train_best_model', 'Test_pure_prs', 'Test_null_model', and 'Test_best_model':\n")
print("3. For string hyperparameters, we used one-hot encoding to find the correlation between string hyperparameters and 'Train_null_model', 'Train_pure_prs', 'Train_best_model', 'Test_pure_prs', 'Test_null_model', and 'Test_best_model'.")
print("3. We performed this analysis for those hyperparameters that have more than one unique value.")
correlation_columns = [
'Train_null_model', 'Train_pure_prs', 'Train_best_model',
'Test_pure_prs', 'Test_null_model', 'Test_best_model'
]
hyperparams = [col for col in divided_result.columns if len(divided_result[col].unique()) > 1]
hyperparams = list(set(hyperparams+correlation_columns))
# Separate numeric and string columns
numeric_hyperparams = [col for col in hyperparams if pd.api.types.is_numeric_dtype(divided_result[col])]
string_hyperparams = [col for col in hyperparams if pd.api.types.is_string_dtype(divided_result[col])]
# Encode string columns using one-hot encoding
divided_result_encoded = pd.get_dummies(divided_result, columns=string_hyperparams)
# Combine numeric hyperparams with the new one-hot encoded columns
encoded_columns = [col for col in divided_result_encoded.columns if col.startswith(tuple(string_hyperparams))]
hyperparams = numeric_hyperparams + encoded_columns
# Calculate correlations
correlations = divided_result_encoded[hyperparams].corr()
# Display correlation of hyperparameters with train/test performance columns
hyperparam_correlations = correlations.loc[hyperparams, correlation_columns]
hyperparam_correlations = hyperparam_correlations.fillna(0)
# Plotting the correlation heatmap
plt.figure(figsize=(12, 8))
ax = sns.heatmap(hyperparam_correlations, annot=True, cmap='viridis', fmt='.2f', cbar=True)
ax.set_xticklabels(ax.get_xticklabels(), rotation=90, ha='right')
# Rotate y-axis labels to horizontal
#ax.set_yticklabels(ax.get_yticklabels(), rotation=0, va='center')
plt.title('Correlation of Hyperparameters with Train/Test Performance')
plt.show()
sns.set_theme(style="whitegrid") # Choose your preferred style
pairplot = sns.pairplot(divided_result_encoded[hyperparams],hue = 'Test_best_model', palette='viridis')
# Adjust the figure size
pairplot.fig.set_size_inches(15, 15) # You can adjust the size as needed
for ax in pairplot.axes.flatten():
ax.set_xlabel(ax.get_xlabel(), rotation=90, ha='right') # X-axis labels vertical
#ax.set_ylabel(ax.get_ylabel(), rotation=0, va='bottom') # Y-axis labels horizontal
# Show the plot
plt.show()
1. Reporting Based on Best Training Performance:
| | 17 |
|:-----------------|--------------:|
| clump_p1 | 1 |
| clump_r2 | 0.1 |
| clump_kb | 200 |
| p_window_size | 200 |
| p_slide_size | 50 |
| p_LD_threshold | 0.25 |
| pvalue | 1 |
| numberofpca | 6 |
| tempalpha | 0.1 |
| l1weight | 0.1 |
| Train_pure_prs | 1.29431e-06 |
| Train_null_model | 0.229763 |
| Train_best_model | 0.34439 |
| Test_pure_prs | 1.30093e-06 |
| Test_null_model | 0.0786162 |
| Test_best_model | 0.227163 |
2. Reporting Generalized Performance:
| | 17 |
|:-----------------|--------------:|
| clump_p1 | 1 |
| clump_r2 | 0.1 |
| clump_kb | 200 |
| p_window_size | 200 |
| p_slide_size | 50 |
| p_LD_threshold | 0.25 |
| pvalue | 1 |
| numberofpca | 6 |
| tempalpha | 0.1 |
| l1weight | 0.1 |
| Train_pure_prs | 1.29431e-06 |
| Train_null_model | 0.229763 |
| Train_best_model | 0.34439 |
| Test_pure_prs | 1.30093e-06 |
| Test_null_model | 0.0786162 |
| Test_best_model | 0.227163 |
| Difference | 0.117227 |
| Sum | 0.571553 |
3. Reporting the correlation of hyperparameters and the performance of 'Train_null_model', 'Train_pure_prs', 'Train_best_model', 'Test_pure_prs', 'Test_null_model', and 'Test_best_model':
3. For string hyperparameters, we used one-hot encoding to find the correlation between string hyperparameters and 'Train_null_model', 'Train_pure_prs', 'Train_best_model', 'Test_pure_prs', 'Test_null_model', and 'Test_best_model'.
3. We performed this analysis for those hyperparameters that have more than one unique value.