GWAS replication study in R

Preparing data for GWAS

        - Two files are needed to start a GWAS 
        - A .map file and ,ped
        - i think that is all needed to start a gwas
        - the plink .exe file needs to be present in the folder of the needed files
        - the trick for me was to use the cmd to load the gwas file to make the bed file
        - open a powershell terminal from the folder of the adgwas (Right click in the folder and then open a powershell or cmd and that is the only way it works)
        - This is the line used './plink --file adgwas --make-bed --out output/binary_adgwas'
        - remember to have the output folder in the gwas folder to prevent clutter
        - you should then have a bunch of binary files in the output folder
        - The use of these files i am yet to figure out

Preparing for GWAS by working on folders and neatness of the setup

library(plinkQC)
package.dir <- find.package('plinkQC')

# Dir where data is stored
#setwd('dir of gwas data = your personal directory')
indir <- paste(getwd(), '/input', sep='')
qcdir <- paste(getwd(), '/output', sep='')

# The steps below i suppose are for if you did not use the powershell to make the binary files

## Follow the steps below if you dont know how to use the powersheel
# Prefix of the binary PLINK files (*.bim, *.bed, *.fam) 
name <- 'binary_adgwas'


# Change this dir to PLINK location on your PC!
path2plink <- "C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/plink/plink.exe"

# Make PLINK binary files (raw.bim, raw.bam, raw.fam) from the text ones (adgwas.ped, adgwas.map)
#make_binary = paste(path2plink, ' --file ', indir, '/adgwas --make-bed --out ', indir, '/raw', sep="")
#system(make_binary, intern=TRUE)

Individual QC

#Check sex-ensure that observed or assigned (counted males vs females) and reported
# sex or genders are consistent. Assigned sex male or female vs SNP sex (Xchr location)
fail_sex <- check_sex(indir, name, qcdir = qcdir, path2plink = path2plink, 
              showPlinkOutput = TRUE, verbose=TRUE)
## Run check_sex via plink --check-sex
## PLINK v1.90b6.26 64-bit (2 Apr 2022)           www.cog-genomics.org/plink/1.9/
## (C) 2005-2022 Shaun Purcell, Christopher Chang   GNU General Public License v3
## Logging to C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.log.
## Options in effect:
##   --bfile C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas
##   --check-sex
##   --out C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas
## 
## 15775 MB RAM detected; reserving 7887 MB for main workspace.
## 380157 variants loaded from .bim file.
## 364 people (191 males, 173 females) loaded from .fam.
## 364 phenotype values loaded from .fam.
## Using 1 thread (no multithreaded calculations invoked).
## Before main variant filters, 364 founders and 0 nonfounders present.
## Calculating allele frequencies... 0%1%2%3%4%5%6%7%8%9%10%11%12%13%14%15%16%17%18%19%20%21%22%23%24%25%26%27%28%29%30%31%32%33%34%35%36%37%38%39%40%41%42%43%44%45%46%47%48%49%50%51%52%53%54%55%56%57%58%59%60%61%62%63%64%65%66%67%68%69%70%71%72%73%74%75%76%77%78%79%80%81%82%83%84%85%86%87%88%89%90%91%92%93%94%95%96%97%98%99% done.
## Total genotyping rate is 0.975068.
## 380157 variants and 364 people pass filters and QC.
## Among remaining phenotypes, 176 are cases and 188 are controls.
## --check-sex: 7904 Xchr and 0 Ychr variant(s) scanned, no problems detected.
## Report written to
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.sexcheck
## .
run_check_sex(indir, name, qcdir = qcdir, path2plink = path2plink, 
              showPlinkOutput = TRUE, verbose=TRUE)
## Run check_sex via plink --check-sex
## PLINK v1.90b6.26 64-bit (2 Apr 2022)           www.cog-genomics.org/plink/1.9/
## (C) 2005-2022 Shaun Purcell, Christopher Chang   GNU General Public License v3
## Logging to C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.log.
## Options in effect:
##   --bfile C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas
##   --check-sex
##   --out C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas
## 
## 15775 MB RAM detected; reserving 7887 MB for main workspace.
## 380157 variants loaded from .bim file.
## 364 people (191 males, 173 females) loaded from .fam.
## 364 phenotype values loaded from .fam.
## Using 1 thread (no multithreaded calculations invoked).
## Before main variant filters, 364 founders and 0 nonfounders present.
## Calculating allele frequencies... 0%1%2%3%4%5%6%7%8%9%10%11%12%13%14%15%16%17%18%19%20%21%22%23%24%25%26%27%28%29%30%31%32%33%34%35%36%37%38%39%40%41%42%43%44%45%46%47%48%49%50%51%52%53%54%55%56%57%58%59%60%61%62%63%64%65%66%67%68%69%70%71%72%73%74%75%76%77%78%79%80%81%82%83%84%85%86%87%88%89%90%91%92%93%94%95%96%97%98%99% done.
## Total genotyping rate is 0.975068.
## 380157 variants and 364 people pass filters and QC.
## Among remaining phenotypes, 176 are cases and 188 are controls.
## --check-sex: 7904 Xchr and 0 Ychr variant(s) scanned, no problems detected.
## Report written to
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.sexcheck
## .
## [1] 0
#outlying missing genotypes and heterozygosity rate
fail_het_imiss <- check_het_and_miss(indir, qcdir = qcdir, name=name,  path2plink = path2plink,
                   imissTh = 0.1, hetTh = 3, 
                   interactive = FALSE, verbose = TRUE, showPlinkOutput = TRUE)
## Run check_heterozygosity via plink --het
## PLINK v1.90b6.26 64-bit (2 Apr 2022)           www.cog-genomics.org/plink/1.9/
## (C) 2005-2022 Shaun Purcell, Christopher Chang   GNU General Public License v3
## Logging to C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.log.
## Options in effect:
##   --bfile C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas
##   --het
##   --out C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas
## 
## 15775 MB RAM detected; reserving 7887 MB for main workspace.
## 380157 variants loaded from .bim file.
## 364 people (191 males, 173 females) loaded from .fam.
## 364 phenotype values loaded from .fam.
## Using 1 thread (no multithreaded calculations invoked).
## Before main variant filters, 364 founders and 0 nonfounders present.
## Calculating allele frequencies... 0%1%2%3%4%5%6%7%8%9%10%11%12%13%14%15%16%17%18%19%20%21%22%23%24%25%26%27%28%29%30%31%32%33%34%35%36%37%38%39%40%41%42%43%44%45%46%47%48%49%50%51%52%53%54%55%56%57%58%59%60%61%62%63%64%65%66%67%68%69%70%71%72%73%74%75%76%77%78%79%80%81%82%83%84%85%86%87%88%89%90%91%92%93%94%95%96%97%98%99% done.
## Total genotyping rate is 0.975068.
## 380157 variants and 364 people pass filters and QC.
## Among remaining phenotypes, 176 are cases and 188 are controls.
## --het: 372253 variants scanned, report written to
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.het
## .
## Run check_missingness via plink --missing
## PLINK v1.90b6.26 64-bit (2 Apr 2022)           www.cog-genomics.org/plink/1.9/
## (C) 2005-2022 Shaun Purcell, Christopher Chang   GNU General Public License v3
## Logging to C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.log.
## Options in effect:
##   --bfile C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas
##   --missing
##   --out C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas
## 
## 15775 MB RAM detected; reserving 7887 MB for main workspace.
## 380157 variants loaded from .bim file.
## 364 people (191 males, 173 females) loaded from .fam.
## 364 phenotype values loaded from .fam.
## Using 1 thread (no multithreaded calculations invoked).
## Before main variant filters, 364 founders and 0 nonfounders present.
## Calculating allele frequencies... 0%1%2%3%4%5%6%7%8%9%10%11%12%13%14%15%16%17%18%19%20%21%22%23%24%25%26%27%28%29%30%31%32%33%34%35%36%37%38%39%40%41%42%43%44%45%46%47%48%49%50%51%52%53%54%55%56%57%58%59%60%61%62%63%64%65%66%67%68%69%70%71%72%73%74%75%76%77%78%79%80%81%82%83%84%85%86%87%88%89%90%91%92%93%94%95%96%97%98%99% done.
## Total genotyping rate is 0.975068.
## --missing: Sample missing data report written to
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.imiss,
## and variant-based missing data report written to
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.lmiss.
#remove ibd data points- genotypes are not a good representation of the population
exclude_relatedness <- check_relatedness(indir, name, qcdir = qcdir, path2plink=path2plink,
                                         highIBDTh=0.2, 
                                         interactive=TRUE, verbose=FALSE, showPlinkOutput = TRUE)
## PLINK v1.90b6.26 64-bit (2 Apr 2022)           www.cog-genomics.org/plink/1.9/
## (C) 2005-2022 Shaun Purcell, Christopher Chang   GNU General Public License v3
## Logging to C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.log.
## Options in effect:
##   --bfile C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas
##   --exclude range C:/Users/GrandProf/AppData/Local/R/win-library/4.2/plinkQC/extdata/high-LD-regions-hg19-GRCh37.txt
##   --indep-pairwise 50 5 0.2
##   --out C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas
## 
## 15775 MB RAM detected; reserving 7887 MB for main workspace.
## 380157 variants loaded from .bim file.
## 364 people (191 males, 173 females) loaded from .fam.
## 364 phenotype values loaded from .fam.
## --exclude range: 8098 variants excluded.
## --exclude range: 372059 variants remaining.
## Using 1 thread (no multithreaded calculations invoked).
## Before main variant filters, 364 founders and 0 nonfounders present.
## Calculating allele frequencies... 0%1%2%3%4%5%6%7%8%9%10%11%12%13%14%15%16%17%18%19%20%21%22%23%24%25%26%27%28%29%30%31%32%33%34%35%36%37%38%39%40%41%42%43%44%45%46%47%48%49%50%51%52%53%54%55%56%57%58%59%60%61%62%63%64%65%66%67%68%69%70%71%72%73%74%75%76%77%78%79%80%81%82%83%84%85%86%87%88%89%90%91%92%93%94%95%96%97%98%99% done.
## Total genotyping rate is 0.9751.
## 372059 variants and 364 people pass filters and QC.
## Among remaining phenotypes, 176 are cases and 188 are controls.
## 
1%
2%
3%
3%
4%
5%
6%
7%
8%
8%
9%
10%
11%
12%
13%
13%
14%
15%
16%
17%
18%
19%
20%
21%
22%
23%
23%
24%
25%
26%
27%
28%
28%
29%
30%
31%
32%
33%
33%
34%
35%
36%
37%
38%
38%
39%
40%
41%
42%
43%
43%
44%
45%
46%
47%
48%
48%
49%
50%
51%
52%
53%
53%
54%
55%
56%
57%
58%
58%
59%
60%
61%
62%
63%
63%
64%
65%
66%
67%
68%
68%
69%
70%
71%
72%
73%
73%
74%
75%
76%
77%
78%
78%
79%
80%
81%
82%
83%
83%
84%
85%
86%
87%
88%
88%
89%
90%
91%
92%
93%
93%
94%
95%
96%
97%
98%
98%
99%
Pruned 22065 variants from chromosome 1, leaving 7539.
## 
1%
2%
3%
4%
5%
6%
7%
8%
9%
10%
11%
12%
13%
14%
15%
15%
16%
17%
18%
18%
19%
20%
21%
21%
22%
23%
24%
24%
25%
26%
27%
27%
28%
29%
30%
30%
31%
32%
33%
33%
34%
35%
36%
37%
38%
39%
40%
41%
44%
45%
45%
46%
47%
48%
48%
49%
50%
51%
51%
52%
53%
54%
54%
55%
56%
57%
58%
59%
60%
61%
62%
63%
64%
65%
66%
67%
68%
69%
70%
71%
72%
73%
73%
74%
75%
76%
78%
79%
80%
80%
81%
82%
83%
83%
84%
85%
86%
87%
88%
89%
90%
91%
92%
93%
94%
95%
96%
97%
98%
99%
Pruned 22603 variants from chromosome 2, leaving 7188.
## 
0%
1%
1%
2%
3%
4%
5%
6%
7%
8%
9%
10%
11%
11%
12%
12%
13%
14%
15%
16%
17%
18%
19%
20%
21%
22%
22%
23%
23%
24%
25%
26%
27%
28%
29%
29%
30%
30%
31%
32%
33%
34%
35%
36%
37%
38%
39%
40%
40%
41%
41%
42%
43%
44%
45%
46%
47%
49%
50%
51%
52%
53%
53%
54%
54%
55%
56%
57%
58%
59%
60%
61%
62%
63%
64%
64%
65%
65%
66%
67%
68%
69%
70%
71%
72%
73%
74%
75%
75%
76%
76%
77%
78%
79%
80%
81%
82%
83%
84%
85%
86%
86%
87%
87%
88%
89%
90%
91%
92%
93%
94%
95%
96%
97%
97%
98%
98%
99%
Pruned 19023 variants from chromosome 3, leaving 6118.
## 
0%
1%
2%
3%
4%
5%
6%
7%
7%
8%
8%
9%
10%
11%
12%
13%
14%
15%
15%
16%
16%
17%
18%
19%
20%
21%
22%
23%
23%
24%
24%
25%
26%
27%
28%
29%
30%
31%
31%
32%
32%
33%
34%
35%
36%
37%
38%
39%
39%
40%
40%
41%
42%
43%
44%
45%
46%
47%
47%
48%
48%
49%
50%
51%
52%
53%
54%
55%
55%
56%
56%
57%
58%
59%
60%
61%
62%
63%
63%
64%
64%
65%
66%
67%
68%
69%
70%
71%
71%
72%
72%
73%
74%
75%
76%
77%
78%
79%
79%
80%
81%
82%
83%
84%
85%
86%
87%
87%
88%
89%
90%
91%
92%
93%
94%
95%
95%
96%
97%
98%
99%
Pruned 18135 variants from chromosome 4, leaving 5928.
## 
1%
2%
3%
4%
5%
6%
7%
8%
8%
9%
10%
11%
12%
12%
13%
14%
15%
16%
16%
17%
18%
19%
20%
20%
21%
22%
23%
24%
24%
25%
26%
27%
28%
29%
30%
31%
32%
32%
33%
34%
35%
36%
36%
37%
38%
39%
40%
40%
41%
42%
43%
44%
44%
45%
46%
47%
48%
48%
49%
50%
51%
52%
52%
53%
54%
55%
56%
57%
58%
59%
60%
61%
62%
63%
64%
65%
65%
66%
67%
68%
69%
70%
71%
72%
72%
73%
74%
75%
76%
76%
77%
78%
79%
80%
80%
81%
82%
83%
84%
85%
86%
87%
88%
89%
89%
90%
91%
92%
93%
93%
94%
95%
96%
97%
97%
98%
99%
Pruned 18263 variants from chromosome 5, leaving 5915.
## 
1%
2%
3%
4%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
14%
15%
16%
17%
18%
25%
26%
27%
28%
28%
29%
30%
31%
32%
33%
33%
34%
35%
36%
37%
38%
38%
39%
40%
41%
42%
42%
43%
44%
45%
46%
47%
47%
48%
49%
50%
51%
52%
52%
53%
54%
55%
56%
57%
57%
58%
59%
60%
61%
62%
62%
63%
64%
65%
66%
67%
67%
68%
69%
70%
71%
72%
72%
73%
74%
75%
76%
77%
77%
78%
79%
80%
81%
82%
83%
84%
85%
85%
86%
87%
88%
89%
90%
90%
91%
92%
93%
94%
95%
95%
96%
97%
98%
99%
Pruned 16939 variants from chromosome 6, leaving 5428.
## 
1%
2%
2%
3%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
15%
16%
16%
17%
18%
19%
20%
21%
22%
23%
23%
24%
25%
26%
27%
28%
29%
30%
30%
31%
32%
33%
34%
35%
36%
37%
37%
38%
39%
40%
41%
42%
43%
44%
46%
47%
48%
49%
49%
50%
51%
52%
53%
54%
55%
56%
56%
57%
58%
59%
60%
61%
62%
63%
63%
64%
65%
66%
67%
68%
69%
70%
70%
71%
72%
73%
74%
75%
76%
77%
77%
78%
79%
80%
81%
82%
83%
84%
84%
85%
86%
87%
88%
89%
90%
91%
91%
92%
93%
94%
95%
96%
97%
98%
98%
99%
Pruned 14398 variants from chromosome 7, leaving 5006.
## 
1%
2%
3%
4%
5%
6%
7%
8%
9%
13%
14%
15%
16%
17%
18%
19%
20%
21%
21%
22%
22%
23%
23%
24%
25%
26%
27%
28%
29%
30%
31%
32%
33%
34%
35%
36%
37%
38%
39%
40%
41%
42%
43%
43%
44%
44%
45%
45%
46%
47%
48%
49%
50%
51%
52%
53%
54%
55%
56%
57%
58%
59%
59%
60%
60%
61%
61%
62%
63%
64%
65%
66%
67%
68%
69%
70%
71%
72%
73%
74%
75%
76%
77%
78%
78%
79%
79%
80%
80%
81%
82%
83%
84%
85%
86%
87%
88%
89%
90%
91%
92%
93%
93%
94%
94%
95%
95%
96%
97%
98%
99%
Pruned 15060 variants from chromosome 8, leaving 4619.
## 
1%
2%
3%
4%
5%
6%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
15%
16%
17%
18%
19%
19%
20%
21%
22%
22%
23%
24%
25%
26%
27%
28%
29%
29%
30%
31%
32%
32%
33%
34%
35%
35%
36%
37%
38%
39%
40%
41%
42%
42%
43%
44%
45%
45%
46%
47%
48%
49%
50%
51%
52%
53%
54%
55%
55%
56%
57%
58%
58%
59%
60%
61%
62%
63%
64%
65%
65%
66%
67%
68%
68%
69%
70%
71%
71%
72%
73%
74%
75%
76%
77%
78%
78%
79%
80%
81%
81%
82%
83%
84%
84%
85%
86%
87%
88%
89%
90%
91%
91%
92%
93%
94%
94%
95%
96%
97%
98%
99%
Pruned 13214 variants from chromosome 9, leaving 4439.
## 
1%
2%
3%
4%
5%
5%
6%
7%
8%
9%
10%
11%
12%
12%
13%
14%
15%
16%
17%
18%
19%
19%
20%
21%
22%
23%
24%
25%
26%
26%
27%
28%
29%
30%
31%
33%
34%
34%
35%
35%
36%
37%
38%
39%
40%
41%
41%
42%
42%
43%
44%
45%
46%
47%
48%
48%
49%
50%
51%
52%
53%
54%
55%
55%
56%
57%
58%
59%
60%
61%
62%
62%
63%
64%
65%
66%
67%
68%
69%
69%
70%
71%
72%
73%
74%
75%
76%
76%
77%
78%
79%
80%
81%
82%
83%
83%
84%
85%
86%
87%
88%
89%
90%
90%
91%
92%
93%
94%
95%
96%
97%
97%
98%
99%
Pruned 16391 variants from chromosome 10, leaving 5108.
## 
1%
2%
3%
4%
5%
6%
7%
8%
9%
10%
11%
12%
13%
14%
15%
16%
17%
18%
19%
20%
21%
22%
23%
24%
25%
26%
27%
28%
29%
30%
31%
32%
33%
34%
35%
36%
37%
38%
39%
40%
41%
42%
43%
44%
45%
46%
47%
48%
49%
50%
51%
52%
53%
54%
55%
56%
57%
58%
59%
60%
62%
63%
64%
64%
65%
66%
67%
67%
68%
69%
70%
70%
71%
72%
73%
73%
74%
75%
76%
76%
77%
78%
79%
79%
80%
81%
82%
82%
83%
84%
85%
85%
86%
87%
88%
88%
89%
90%
91%
91%
92%
93%
94%
94%
95%
96%
97%
97%
98%
99%
Pruned 14918 variants from chromosome 11, leaving 4584.
## 
1%
2%
2%
3%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
15%
16%
16%
17%
18%
19%
20%
21%
22%
23%
23%
24%
25%
26%
27%
32%
33%
33%
34%
35%
36%
36%
37%
38%
39%
40%
41%
42%
43%
43%
44%
45%
46%
47%
48%
49%
50%
50%
51%
52%
53%
54%
55%
56%
57%
57%
58%
59%
60%
61%
62%
63%
64%
64%
65%
66%
67%
68%
69%
70%
71%
71%
72%
73%
74%
75%
76%
77%
78%
78%
79%
80%
81%
81%
82%
83%
84%
85%
85%
86%
87%
88%
88%
89%
90%
91%
92%
92%
93%
94%
95%
95%
96%
97%
98%
99%
Pruned 13334 variants from chromosome 12, leaving 4661.
## 
1%
2%
3%
4%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
15%
15%
16%
17%
18%
19%
20%
20%
21%
22%
23%
24%
25%
26%
26%
27%
28%
29%
30%
31%
31%
32%
33%
34%
35%
36%
37%
37%
38%
39%
40%
41%
42%
42%
43%
44%
45%
46%
47%
48%
48%
49%
50%
51%
52%
53%
53%
54%
55%
56%
57%
58%
59%
59%
60%
61%
62%
63%
64%
64%
65%
66%
67%
68%
69%
70%
70%
71%
72%
73%
74%
75%
75%
76%
77%
78%
79%
80%
81%
81%
82%
83%
84%
85%
86%
86%
87%
88%
89%
90%
91%
92%
92%
93%
94%
95%
96%
97%
97%
98%
99%
Pruned 10794 variants from chromosome 13, leaving 3615.
## 
1%
2%
2%
3%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
15%
16%
16%
17%
18%
19%
19%
20%
21%
22%
23%
24%
25%
26%
26%
27%
28%
29%
30%
31%
32%
33%
33%
34%
35%
36%
36%
37%
38%
39%
40%
40%
41%
42%
43%
43%
44%
45%
46%
47%
48%
49%
50%
50%
51%
52%
53%
54%
55%
56%
57%
57%
58%
59%
60%
60%
61%
62%
63%
64%
64%
65%
66%
67%
67%
68%
69%
70%
71%
72%
73%
74%
74%
75%
76%
77%
78%
79%
80%
81%
81%
82%
83%
84%
84%
85%
86%
87%
88%
88%
89%
90%
91%
91%
92%
93%
94%
95%
96%
97%
98%
98%
99%
Pruned 8697 variants from chromosome 14, leaving 3157.
## 
1%
1%
2%
3%
3%
4%
5%
5%
6%
7%
7%
8%
9%
9%
10%
11%
11%
12%
13%
13%
14%
15%
15%
16%
17%
17%
18%
19%
19%
20%
21%
21%
22%
23%
23%
24%
25%
25%
26%
27%
27%
28%
29%
29%
30%
31%
31%
32%
33%
33%
34%
35%
35%
36%
37%
37%
38%
39%
39%
40%
41%
41%
42%
43%
43%
44%
45%
45%
46%
47%
47%
48%
49%
50%
51%
52%
53%
54%
55%
56%
57%
58%
59%
60%
61%
62%
63%
64%
65%
66%
67%
68%
69%
70%
71%
72%
73%
74%
75%
76%
77%
78%
79%
80%
81%
82%
83%
84%
85%
86%
87%
88%
89%
90%
91%
92%
93%
94%
95%
96%
97%
98%
99%
Pruned 7689 variants from chromosome 15, leaving 3063.
## 
1%
2%
2%
3%
4%
5%
5%
6%
7%
8%
9%
10%
10%
11%
12%
13%
13%
14%
15%
16%
17%
18%
19%
20%
21%
21%
22%
23%
24%
24%
25%
26%
27%
28%
29%
30%
31%
32%
32%
33%
34%
35%
35%
36%
37%
38%
39%
40%
40%
41%
42%
43%
43%
44%
45%
46%
47%
48%
49%
50%
51%
51%
52%
53%
54%
54%
55%
56%
57%
58%
59%
60%
61%
62%
62%
63%
64%
65%
65%
66%
67%
68%
69%
70%
71%
72%
73%
73%
74%
75%
76%
76%
77%
78%
79%
80%
81%
81%
82%
83%
84%
84%
85%
86%
87%
88%
89%
90%
91%
92%
92%
93%
94%
95%
95%
96%
97%
98%
99%
Pruned 8445 variants from chromosome 16, leaving 3238.
## 
1%
2%
3%
4%
5%
6%
6%
7%
8%
9%
9%
10%
11%
12%
12%
13%
14%
15%
15%
16%
17%
18%
19%
20%
21%
22%
23%
24%
25%
25%
26%
27%
28%
28%
29%
30%
31%
31%
32%
33%
34%
35%
36%
37%
38%
39%
40%
41%
41%
42%
43%
44%
44%
45%
46%
47%
47%
48%
49%
50%
50%
51%
52%
53%
54%
55%
56%
57%
58%
59%
60%
60%
61%
62%
63%
63%
64%
65%
66%
66%
67%
68%
69%
70%
71%
72%
73%
74%
75%
76%
76%
77%
78%
79%
79%
80%
81%
82%
82%
83%
84%
85%
85%
86%
87%
88%
89%
90%
91%
92%
93%
94%
95%
95%
96%
97%
98%
98%
99%
Pruned 5918 variants from chromosome 17, leaving 2739.
## 
1%
2%
3%
3%
4%
5%
6%
7%
7%
8%
9%
10%
11%
11%
12%
13%
14%
15%
16%
17%
18%
18%
19%
20%
21%
22%
22%
23%
24%
25%
26%
26%
27%
28%
29%
30%
31%
32%
33%
33%
34%
35%
36%
37%
37%
38%
39%
40%
41%
41%
42%
43%
44%
45%
46%
47%
48%
48%
49%
50%
51%
52%
52%
53%
54%
55%
56%
56%
57%
58%
59%
60%
61%
62%
63%
63%
64%
65%
66%
67%
67%
68%
69%
70%
71%
71%
72%
73%
74%
75%
76%
77%
78%
78%
79%
80%
81%
82%
82%
83%
84%
85%
86%
86%
87%
88%
89%
90%
91%
92%
93%
93%
94%
95%
96%
97%
97%
98%
99%
Pruned 8099 variants from chromosome 18, leaving 3034.
## 
1%
2%
3%
4%
5%
6%
7%
8%
9%
10%
10%
11%
11%
12%
13%
14%
15%
16%
17%
18%
19%
20%
21%
22%
22%
23%
23%
24%
25%
26%
27%
28%
29%
30%
31%
32%
33%
34%
35%
35%
36%
36%
37%
38%
39%
40%
41%
42%
43%
44%
45%
46%
47%
47%
48%
48%
49%
50%
51%
52%
53%
54%
55%
56%
57%
58%
59%
60%
60%
61%
61%
62%
63%
64%
65%
66%
67%
68%
69%
70%
71%
72%
72%
73%
73%
74%
75%
76%
77%
78%
79%
80%
81%
82%
83%
84%
85%
85%
86%
86%
87%
88%
89%
90%
91%
92%
93%
94%
95%
96%
97%
97%
98%
98%
99%
Pruned 3156 variants from chromosome 19, leaving 1804.
## 
1%
2%
3%
4%
5%
6%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
15%
16%
16%
17%
18%
19%
19%
20%
21%
22%
23%
24%
25%
26%
27%
28%
29%
29%
30%
31%
32%
32%
33%
34%
35%
36%
37%
38%
39%
39%
40%
41%
42%
42%
43%
44%
45%
46%
47%
48%
49%
50%
51%
52%
54%
54%
55%
56%
57%
57%
58%
59%
60%
61%
62%
63%
64%
64%
65%
66%
67%
67%
68%
69%
70%
71%
72%
73%
74%
75%
76%
77%
77%
78%
79%
80%
80%
81%
82%
83%
84%
85%
86%
87%
87%
88%
89%
90%
90%
91%
92%
93%
94%
95%
96%
97%
97%
98%
99%
Pruned 6826 variants from chromosome 20, leaving 2638.
## 
1%
2%
3%
4%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
14%
15%
16%
17%
18%
19%
19%
20%
21%
22%
23%
24%
24%
25%
26%
27%
28%
29%
29%
30%
31%
32%
33%
34%
35%
35%
36%
37%
38%
39%
40%
40%
41%
42%
43%
44%
45%
45%
46%
47%
48%
49%
50%
50%
51%
52%
53%
54%
55%
55%
56%
57%
58%
59%
60%
60%
61%
62%
63%
64%
65%
65%
66%
66%
67%
68%
69%
70%
71%
71%
72%
73%
74%
75%
76%
76%
77%
78%
79%
80%
81%
81%
82%
83%
84%
85%
86%
86%
87%
88%
89%
90%
91%
91%
92%
93%
94%
95%
96%
96%
97%
98%
99%
Pruned 3902 variants from chromosome 21, leaving 1501.
## 
1%
1%
2%
3%
4%
5%
6%
6%
7%
8%
9%
10%
11%
11%
12%
13%
14%
15%
16%
16%
17%
18%
19%
20%
21%
22%
23%
23%
24%
25%
26%
27%
28%
28%
29%
30%
31%
32%
33%
33%
34%
35%
36%
37%
38%
38%
39%
40%
40%
41%
42%
43%
44%
45%
45%
46%
47%
48%
49%
50%
50%
51%
52%
53%
54%
55%
55%
56%
57%
58%
59%
60%
61%
62%
62%
63%
64%
65%
66%
67%
67%
68%
69%
70%
71%
72%
72%
73%
74%
75%
76%
77%
77%
78%
79%
80%
81%
82%
83%
84%
84%
85%
86%
87%
88%
89%
89%
90%
91%
92%
93%
94%
94%
95%
96%
97%
98%
99%
Pruned 3299 variants from chromosome 22, leaving 1496.
## 
1%
2%
3%
4%
4%
5%
6%
7%
8%
9%
9%
10%
11%
12%
13%
14%
14%
15%
16%
17%
18%
19%
19%
20%
21%
22%
23%
24%
25%
25%
26%
27%
28%
29%
30%
30%
31%
32%
33%
34%
35%
35%
36%
37%
38%
39%
40%
40%
41%
42%
43%
44%
45%
45%
46%
47%
48%
49%
50%
51%
51%
52%
53%
54%
55%
56%
56%
57%
58%
59%
60%
61%
61%
62%
63%
64%
65%
66%
66%
67%
68%
69%
70%
71%
71%
72%
73%
74%
75%
76%
77%
77%
78%
79%
80%
81%
82%
82%
83%
84%
85%
86%
87%
87%
88%
89%
90%
91%
92%
92%
93%
94%
95%
96%
97%
97%
98%
99%
Pruned 5703 variants from chromosome 23, leaving 2201.
## 
2%
5%
8%
11%
14%
17%
20%
23%
26%
29%
32%
35%
38%
41%
44%
47%
50%
53%
56%
59%
62%
65%
68%
71%
73%
76%
79%
82%
85%
88%
91%
94%
97%
Pruned 54 variants from chromosome 25, leaving 115.
## Pruning complete.  276925 of 372059 variants removed.
## Writing...
Marker lists written to
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.prune.in
## and
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.prune.out
## .
## PLINK v1.90b6.26 64-bit (2 Apr 2022)           www.cog-genomics.org/plink/1.9/
## (C) 2005-2022 Shaun Purcell, Christopher Chang   GNU General Public License v3
## Logging to C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.log.
## Options in effect:
##   --bfile C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas
##   --extract C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.prune.in
##   --genome
##   --maf 0.1
##   --out C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas
## 
## 15775 MB RAM detected; reserving 7887 MB for main workspace.
## 380157 variants loaded from .bim file.
## 364 people (191 males, 173 females) loaded from .fam.
## 364 phenotype values loaded from .fam.
## --extract: 95134 variants remaining.
## Using up to 15 threads (change this with --threads).
## Before main variant filters, 364 founders and 0 nonfounders present.
## Calculating allele frequencies... 0%1%2%3%4%5%6%7%8%9%10%11%12%13%14%15%16%17%18%19%20%21%22%23%24%25%26%27%28%29%30%31%32%33%34%35%36%37%38%39%40%41%42%43%44%45%46%47%48%49%50%51%52%53%54%55%56%57%58%59%60%61%62%63%64%65%66%67%68%69%70%71%72%73%74%75%76%77%78%79%80%81%82%83%84%85%86%87%88%89%90%91%92%93%94%95%96%97%98%99% done.
## Total genotyping rate is 0.970469.
## 35068 variants removed due to minor allele threshold(s)
## (--maf/--max-maf/--mac/--max-mac).
## 60066 variants and 364 people pass filters and QC.
## Among remaining phenotypes, 176 are cases and 188 are controls.
## Excluding 1410 variants on non-autosomes from IBD calculation.
## 
1152 markers complete.
2304 markers complete.
3456 markers complete.
4608 markers complete.
5760 markers complete.
6912 markers complete.
8064 markers complete.
9216 markers complete.
10368 markers complete.
11520 markers complete.
12672 markers complete.
13824 markers complete.
14976 markers complete.
16128 markers complete.
17280 markers complete.
18432 markers complete.
19584 markers complete.
20736 markers complete.
21888 markers complete.
23040 markers complete.
24192 markers complete.
25344 markers complete.
26496 markers complete.
27648 markers complete.
28800 markers complete.
29952 markers complete.
31104 markers complete.
32256 markers complete.
33408 markers complete.
34560 markers complete.
35712 markers complete.
36864 markers complete.
38016 markers complete.
39168 markers complete.
40320 markers complete.
41472 markers complete.
42624 markers complete.
43776 markers complete.
44928 markers complete.
46080 markers complete.
47232 markers complete.
48384 markers complete.
49536 markers complete.
50688 markers complete.
51840 markers complete.
52992 markers complete.
54144 markers complete.
55296 markers complete.
56448 markers complete.
57600 markers complete.
58656 markers complete.
IBD calculations complete.  
## 
Writing... 1%
Writing... 3%
Writing... 5%
Writing... 8%
Writing... 10%
Writing... 12%
Writing... 14%
Writing... 16%
Writing... 18%
Writing... 20%
Writing... 22%
Writing... 25%
Writing... 27%
Writing... 29%
Writing... 31%
Writing... 33%
Writing... 35%
Writing... 37%
Writing... 40%
Writing... 42%
Writing... 44%
Writing... 46%
Writing... 48%
Writing... 50%
Writing... 52%
Writing... 54%
Writing... 56%
Writing... 59%
Writing... 61%
Writing... 63%
Writing... 65%
Writing... 67%
Writing... 69%
Writing... 71%
Writing... 73%
Writing... 75%
Writing... 77%
Writing... 80%
Writing... 82%
Writing... 84%
Writing... 86%
Writing... 88%
Writing... 90%
Writing... 92%
Writing... 94%
Writing... 97%
Writing... 99%
Finished writing
## C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.genome
## .

First perIndividual QC

fail_individuals <- perIndividualQC(indir=indir, qcdir=qcdir, name=name, path2plink=path2plink,
                                    dont.check_sex=TRUE, dont.check_ancestry=TRUE,
                                    imissTh = 0.1, hetTh = 3,
                                    highIBDTh=0.2,
                                    interactive=TRUE, verbose=TRUE, showPlinkOutput=FALSE)
## Run check_missingness via plink --missing
## Run check_heterozygosity via plink --het
## Identification of individuals with outlying missing genotype or heterozygosity rates
## Use hg19 coordinates for pruning of high-ld regions
## Prune C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas for relatedness estimation
## Run check_relatedness via plink --genome
## Identification of related individuals
## Combine fail IDs into C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/output/binary_adgwas.fail.IDs

Can also check for SNP missingness

fail_snpmissing <- check_snp_missingness(indir, name, qcdir=indir, path2plink=path2plink,
                     lmissTh = 0.01,
                     interactive=TRUE, showPlinkOutput=FALSE)
## File with individuals that failed perIndividualQC: C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas.fail.IDs does not exist. Continue check_SNP_missingness for all samples in C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas.fam

##Check HWE

check_hwe(indir, name, qcdir=indir, path2plink=path2plink,
          hweTh = 1e-05,
          interactive=TRUE, verbose=TRUE, showPlinkOutput=FALSE)
## File with individuals that failed perIndividualQC: C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas.fail.IDs does not exist. Continue check_HWE for all samples in C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas.fam

## $fail_hwe
##         CHR           SNP TEST A1 A2        GENO   O.HET.  E.HET.         P
## 5539      1     rs1056207  ALL  T  C   13/46/279 0.136100 0.19030 5.333e-06
## 10975     1    rs17342387  ALL  C  T    6/15/317 0.044380 0.07669 8.905e-07
## 15025     1    rs12024669  ALL  C  T   31/84/218 0.252300 0.34230 3.061e-06
## 19678     1     rs1331853  ALL  T  G   36/216/89 0.633400 0.48790 3.192e-08
## 21265     1      rs338945  ALL  G  C  13/181/161 0.509900 0.41310 4.106e-06
## 23785     1      rs285360  ALL  G  A   29/74/234 0.219600 0.31500 2.209e-07
## 27025     1    rs12116755  ALL  C  T   12/36/294 0.105300 0.16000 2.883e-07
## 28645     1    rs12123977  ALL  A  G  10/171/159 0.502900 0.40400 2.671e-06
## 29527     1    rs17100274  ALL  C  T    6/18/328 0.051140 0.08160 3.309e-06
## 29614     1     rs6695572  ALL  T  C   24/60/257 0.176000 0.26660 1.061e-08
## 31561     1      rs785601  ALL  C  A  10/168/168 0.485500 0.39570 8.223e-06
## 46723     1      rs942835  ALL  G  A   23/70/244 0.207700 0.28500 2.503e-06
## 46822     1     rs2453044  ALL  G  A   18/57/279 0.161000 0.22820 6.794e-07
## 49084     1      rs348184  ALL  G  A   1/142/169 0.455100 0.35500 9.952e-09
## 49750     1     rs2758674  ALL  C  T   6/152/175 0.456500 0.37120 9.467e-06
## 56656     1    rs10800570  ALL  G  T   20/67/253 0.197100 0.26520 8.496e-06
## 59926     1     rs3766637  ALL  C  T    8/28/293 0.085110 0.12480 8.247e-06
## 65890     1      rs615747  ALL  T  A   10/33/300 0.096210 0.14260 1.690e-06
## 66598     1     rs2094028  ALL  A  G   25/80/256 0.221600 0.29530 6.141e-06
## 66700     1      rs800290  ALL  G  A  15/184/143 0.538000 0.43000 1.887e-06
## 70558     1      rs823066  ALL  A  G    9/32/309 0.091430 0.13270 4.730e-06
## 73417     1     rs7518399  ALL  G  C   1/136/217 0.384200 0.31380 1.396e-06
## 81343     1     rs2296799  ALL  G  A   26/76/238 0.223500 0.30560 2.438e-06
## 81937     1    rs12029109  ALL  C  T    7/25/318 0.071430 0.10520 9.474e-06
## 82291     1     rs4649265  ALL  C  A    6/14/338 0.039110 0.06999 3.568e-07
## 83707     1      rs982900  ALL  A  G    8/24/311 0.069970 0.10980 1.026e-06
## 87778     1    rs10926940  ALL  T  C  13/189/148 0.540000 0.42560 1.337e-07
## 95533     2     rs6432150  ALL  C  A   18/62/259 0.182900 0.24730 8.838e-06
## 111655    2    rs10167668  ALL  G  A   13/48/281 0.140400 0.19300 9.744e-06
## 111925    2     rs4952782  ALL  A  T   2/138/197 0.409500 0.33260 1.630e-06
## 112390    2     rs2121700  ALL  C  A  80/117/124 0.364500 0.49060 3.736e-06
## 117274    2    rs17189361  ALL  G  T  69/112/149 0.339400 0.47060 3.136e-07
## 119263    2     rs4233978  ALL  G  A   25/77/242 0.223800 0.30100 5.513e-06
## 124063    2      rs608112  ALL  A  G   5/157/186 0.451100 0.36470 2.298e-06
## 131515    2    rs17027293  ALL  G  A   11/39/290 0.114700 0.16330 4.719e-06
## 136447    2     rs4848411  ALL  G  C  71/127/156 0.358800 0.47120 7.586e-06
## 142570    2    rs16837705  ALL  C  T   21/66/249 0.196400 0.26980 3.056e-06
## 149569    2    rs13005519  ALL  C  T    5/10/340 0.028170 0.05475 4.800e-07
## 155782    2    rs16823058  ALL  C  T   15/23/311 0.065900 0.14030 4.181e-13
## 157828    2     rs2646165  ALL  G  A   18/62/259 0.182900 0.24730 8.838e-06
## 160444    2     rs2292855  ALL  C  T    6/11/327 0.031980 0.06463 6.585e-08
## 160534    2     rs6728366  ALL  T  G  57/109/158 0.336400 0.45140 6.100e-06
## 160978    2    rs10497601  ALL  T  C   31/84/223 0.248500 0.33870 2.454e-06
## 186715    3     rs4635693  ALL  G  A   25/76/247 0.218400 0.29650 3.602e-06
## 186979    3     rs2090350  ALL  T  C  23/200/123 0.578000 0.45820 9.365e-07
## 187279    3    rs17044542  ALL  C  A   14/30/279 0.092880 0.16340 1.013e-09
## 192580    3     rs6442561  ALL  C  T   22/57/261 0.167600 0.25290 2.036e-08
## 196513    3     rs1681549  ALL  A  G  59/113/181 0.320100 0.44030 3.949e-07
## 196750    3    rs17593351  ALL  C  T   29/81/213 0.250800 0.33770 7.496e-06
## 196813    3     rs1548008  ALL  G  A   11/37/300 0.106300 0.15520 1.669e-06
## 197365    3     rs6799404  ALL  G  T   13/47/288 0.135100 0.18780 5.525e-06
## 198562    3    rs12715170  ALL  T  C  65/114/147 0.349700 0.46840 4.677e-06
## 201574    3    rs17828003  ALL  G  A    7/24/310 0.070380 0.10520 7.440e-06
## 205732    3      rs201198  ALL  C  T   16/57/267 0.167600 0.22750 9.865e-06
## 212689    3    rs17071854  ALL  C  T   15/55/283 0.155800 0.21180 8.361e-06
## 212713    3    rs11708001  ALL  C  A   5/154/200 0.429000 0.35250 7.276e-06
## 217693    3     rs7612336  ALL  C  T     4/7/334 0.020290 0.04253 1.497e-06
## 219823    3     rs1968814  ALL  T  C   34/90/224 0.258600 0.35100 1.859e-06
## 224422    3     rs1440784  ALL  T  G    6/19/329 0.053670 0.08374 5.123e-06
## 239239    3     rs6787459  ALL  G  A   0/118/231 0.338100 0.28100 7.696e-06
## 241954    3     rs1350226  ALL  T  A   26/78/235 0.230100 0.31000 8.874e-06
## 248263    3     rs4680661  ALL  C  T    6/20/328 0.056500 0.08631 8.034e-06
## 248719    3     rs6776030  ALL  C  A   7/162/167 0.482100 0.38660 1.503e-06
## 250339    3    rs13099331  ALL  T  C   15/50/294 0.139300 0.19800 1.028e-06
## 253483    3     rs6778471  ALL  G  A  63/117/156 0.348200 0.46170 8.429e-06
## 254362    3     rs7612178  ALL  A  C   23/73/259 0.205600 0.27900 2.866e-06
## 258370    3     rs6444705  ALL  C  T    8/18/316 0.052630 0.09447 4.271e-08
## 263617    4    rs13102699  ALL  G  A   0/119/218 0.353100 0.29080 4.227e-06
## 266386    4    rs10017117  ALL  C  T   13/27/295 0.080600 0.14570 5.582e-10
## 268561    4      rs531823  ALL  C  A  81/124/146 0.353300 0.48290 4.266e-07
## 271756    4    rs10016498  ALL  T  C  34/205/107 0.592500 0.47770 8.084e-06
## 281524    4     rs7699089  ALL  G  A   15/54/275 0.157000 0.21440 8.195e-06
## 283720    4     rs9884270  ALL  C  T   13/46/274 0.138100 0.19280 6.343e-06
## 283780    4     rs6554508  ALL  G  T   15/47/278 0.138200 0.20080 6.303e-07
## 293845    4    rs17364803  ALL  C  T   13/47/275 0.140300 0.19420 8.589e-06
## 294445    4    rs11097084  ALL  G  A   32/82/210 0.253100 0.34910 1.501e-06
## 294652    4    rs12171459  ALL  C  T   15/41/276 0.123500 0.19100 5.862e-08
## 298777    4     rs6823388  ALL  A  G    8/21/334 0.057850 0.09673 1.460e-07
## 303172    4     rs6827443  ALL  A  G  24/195/100 0.611300 0.47160 9.994e-08
## 304864    4     rs2174668  ALL  G  A   22/70/253 0.202900 0.27580 3.657e-06
## 306601    4      rs994831  ALL  G  A    8/26/317 0.074070 0.11250 2.145e-06
## 312376    4    rs17050680  ALL  C  T  52/108/173 0.324300 0.43400 6.168e-06
## 315193    4     rs1979957  ALL  C  G  77/122/140 0.359900 0.48270 2.724e-06
## 315691    4    rs10021848  ALL  G  C   6/161/186 0.456100 0.37000 4.012e-06
## 317419    4     rs3804100  ALL  G  A    9/34/309 0.096590 0.13680 9.827e-06
## 319504    4    rs17037858  ALL  C  T     4/6/334 0.017440 0.03987 7.108e-07
## 329668    4     rs1217973  ALL  C  A   15/53/269 0.157300 0.21600 7.461e-06
## 339097    5      rs852585  ALL  T  G    7/19/311 0.056380 0.09313 7.723e-07
## 339139    5     rs7730123  ALL  G  A    8/27/300 0.080600 0.12010 4.732e-06
## 343795    5     rs6859281  ALL  C  T    5/13/338 0.036520 0.06252 2.839e-06
## 354736    5    rs16886496  ALL  C  T   10/31/303 0.090120 0.13730 6.841e-07
## 355492    5    rs11953112  ALL  A  C   32/82/214 0.250000 0.34610 1.242e-06
## 357592    5     rs1176261  ALL  C  T  10/177/156 0.516000 0.40940 5.156e-07
## 359584    5      rs382480  ALL  G  A  73/108/145 0.331300 0.47560 4.761e-08
## 359716    5      rs625637  ALL  A  C   4/162/183 0.464200 0.36850 1.185e-07
## 364009    5      rs256447  ALL  C  T   28/69/240 0.204700 0.30210 2.693e-08
## 367591    5    rs17640214  ALL  G  A   35/70/221 0.214700 0.33720 4.217e-10
## 368005    5    rs10036284  ALL  G  A    7/19/309 0.056720 0.09366 8.045e-07
## 377116    5     rs3097167  ALL  C  T   23/72/242 0.213600 0.28880 9.035e-06
## 378994    5    rs17147703  ALL  G  T   15/48/278 0.140800 0.20260 9.178e-07
## 380134    5     rs6595509  ALL  T  A   28/209/94 0.631400 0.48010 5.584e-09
## 384943    5     rs6596271  ALL  C  T    9/29/299 0.086050 0.12970 1.852e-06
## 403423    5     rs2913481  ALL  A  G   33/219/94 0.632900 0.48450 8.479e-09
## 405823    5     rs2546437  ALL  C  T   11/38/290 0.112100 0.16130 3.274e-06
## 417547    6    rs16884319  ALL  G  T    5/14/333 0.039770 0.06586 5.082e-06
## 418000    6      rs196026  ALL  A  C   46/224/74 0.651200 0.49670 9.999e-09
## 421120    6     rs9257461  ALL  A  G  91/127/118 0.378000 0.49680 8.444e-06
## 421801    6      rs439935  ALL  G  C   21/58/263 0.169600 0.24960 8.121e-08
## 423724    6     rs3957146  ALL  C  T   15/53/279 0.152700 0.21060 5.086e-06
## 424291    6      rs210138  ALL  C  T   25/72/237 0.215600 0.29860 2.560e-06
## 437122    6     rs9346051  ALL  G  A    8/26/325 0.072420 0.11010 1.803e-06
## 437350    6     rs2603687  ALL  C  T   32/76/211 0.238200 0.34260 2.131e-07
## 440485    6     rs6908385  ALL  A  G   20/65/248 0.195200 0.26560 5.821e-06
## 442045    6     rs2603457  ALL  C  T   28/76/230 0.227500 0.31710 8.070e-07
## 446575    6     rs6454872  ALL  C  A  53/109/172 0.326300 0.43650 4.004e-06
## 452491    6        rs1913  ALL  G  A   6/163/169 0.482200 0.38370 3.054e-07
## 454087    6     rs9481246  ALL  A  G  25/206/105 0.613100 0.47170 2.986e-08
## 458545    6     rs2753181  ALL  C  T   32/90/224 0.260100 0.34600 6.515e-06
## 459394    6     rs9385404  ALL  C  T   37/82/209 0.250000 0.36250 5.528e-08
## 459424    6     rs1361831  ALL  C  T 105/133/113 0.378900 0.49970 5.330e-06
## 461680    6     rs9399023  ALL  C  A   10/37/305 0.105100 0.14880 6.639e-06
## 463009    6     rs9402750  ALL  C  A    8/28/314 0.080000 0.11780 5.150e-06
## 470494    6     rs1892355  ALL  C  T  58/102/170 0.309100 0.44240 4.395e-08
## 470719    6      rs599945  ALL  C  A   11/35/305 0.099720 0.14920 6.529e-07
## 475855    6      rs794099  ALL  C  T    6/19/332 0.053220 0.08306 4.876e-06
## 481057    7     rs1474445  ALL  G  A   28/73/230 0.220500 0.31380 4.149e-07
## 482059    7    rs17143355  ALL  G  A   19/58/241 0.182400 0.25630 2.094e-06
## 488632    7     rs2965396  ALL  C  T    6/16/336 0.044690 0.07515 1.091e-06
## 503485    7     rs9791781  ALL  C  A    7/10/326 0.029150 0.06752 1.893e-09
## 504871    7    rs12533567  ALL  G  A   10/36/286 0.108400 0.15440 7.762e-06
## 507385    7     rs4318930  ALL  T  A  23/202/118 0.588900 0.46160 1.611e-07
## 508285    7     rs6958850  ALL  C  T   12/31/288 0.093660 0.15240 3.638e-08
## 512086    7    rs10261664  ALL  C  T   22/68/255 0.197100 0.27190 1.719e-06
## 519808    7     rs2237649  ALL  C  T 108/132/113 0.373900 0.49990 2.011e-06
## 522961    7    rs10241082  ALL  G  A   24/68/243 0.203000 0.28630 5.578e-07
## 525394    7    rs12113012  ALL  G  A    7/24/317 0.068970 0.10320 6.488e-06
## 525580    7     rs1419585  ALL  C  T  59/113/157 0.343500 0.45560 8.785e-06
## 526900    7      rs879003  ALL  T  C   24/72/240 0.214300 0.29340 4.787e-06
## 528502    7      rs985101  ALL  A  T   20/48/269 0.142400 0.22700 2.545e-09
## 529885    7     rs1364746  ALL  A  T   43/88/202 0.264300 0.38600 1.951e-08
## 530143    7    rs11978828  ALL  C  T   32/67/223 0.208100 0.32410 1.247e-09
## 534766    7      rs354075  ALL  A  G  12/170/153 0.507500 0.41140 7.347e-06
## 536764    7     rs3778738  ALL  C  T   14/46/279 0.135700 0.19450 1.494e-06
## 539056    8     rs2701907  ALL  G  A  52/104/171 0.318000 0.43380 1.413e-06
## 539815    8     rs2607684  ALL  G  T   5/167/174 0.482700 0.38070 5.830e-08
## 548686    8    rs17120794  ALL  C  T    9/33/307 0.094560 0.13550 7.195e-06
## 552811    8     rs2610943  ALL  C  T   31/86/230 0.247800 0.33560 2.727e-06
## 556678    8    rs17059008  ALL  C  T   11/32/296 0.094400 0.14660 2.394e-07
## 568729    8     rs6982872  ALL  G  A   20/62/267 0.177700 0.24960 8.297e-07
## 574618    8     rs6986945  ALL  C  A   24/74/232 0.224200 0.30140 8.761e-06
## 575473    8     rs6981188  ALL  G  A  93/124/121 0.366900 0.49660 1.044e-06
## 578194    8      rs843094  ALL  C  T   38/97/202 0.287800 0.38160 9.805e-06
## 579004    8     rs2446834  ALL  T  C    9/13/319 0.038120 0.08678 1.141e-10
## 585775    8    rs10108155  ALL  G  A   33/87/208 0.265200 0.35770 6.824e-06
## 595174    8     rs4388439  ALL  C  T    9/26/311 0.075140 0.11910 3.684e-07
## 599152    8    rs16908893  ALL  G  A     4/4/353 0.011080 0.03269 9.729e-08
## 602005    9    rs16923301  ALL  A  G    8/18/332 0.050280 0.09046 2.975e-08
## 602695    9    rs12339146  ALL  C  A   18/64/271 0.181300 0.24320 9.682e-06
## 605794    9    rs10975413  ALL  G  A   27/80/227 0.239500 0.32070 7.934e-06
## 608512    9     rs7851330  ALL  C  T    8/29/308 0.084060 0.12190 8.620e-06
## 613915    9      rs457062  ALL  C  T   11/29/307 0.083570 0.13620 4.220e-08
## 614257    9    rs12057044  ALL  C  T  49/100/186 0.298500 0.41640 2.945e-07
## 620695    9     rs1622785  ALL  T  C  14/175/145 0.524000 0.42310 6.665e-06
## 634354    9    rs16908281  ALL  G  C    6/19/321 0.054910 0.08558 5.858e-06
## 639478    9     rs7866945  ALL  G  A   28/68/238 0.203600 0.30230 2.090e-08
## 649807    9    rs12236873  ALL  C  T   3/144/193 0.423500 0.34390 1.961e-06
## 650857    9     rs4083644  ALL  A  G   9/164/170 0.478100 0.38980 9.965e-06
## 655102   10    rs10508209  ALL  C  T    7/25/320 0.071020 0.10470 9.118e-06
## 657760   10     rs2961608  ALL  G  C   26/73/246 0.211600 0.29670 4.607e-07
## 664027   10    rs11259036  ALL  C  T     4/9/319 0.027110 0.04989 6.506e-06
## 664096   10    rs17155248  ALL  G  A   21/62/247 0.187900 0.26550 8.710e-07
## 664786   10    rs11253609  ALL  G  A    5/15/331 0.042740 0.06869 8.472e-06
## 665821   10     rs2497828  ALL  C  T  70/123/154 0.354500 0.47070 3.513e-06
## 668584   10     rs7101296  ALL  C  T   37/89/214 0.261800 0.36450 7.265e-07
## 673000   10      rs211379  ALL  G  A   35/95/217 0.273800 0.36250 8.629e-06
## 676270   10    rs11238689  ALL  C  A   18/45/285 0.129300 0.20570 3.779e-09
## 682003   10     rs7070457  ALL  G  C   29/46/248 0.142400 0.27010 4.087e-14
## 686068   10    rs10995932  ALL  C  T   12/38/293 0.110800 0.16440 6.786e-07
## 687439   10    rs10762143  ALL  G  A  87/114/118 0.357400 0.49530 4.483e-07
## 708760   10    rs17130133  ALL  C  T    7/17/311 0.050750 0.08826 2.715e-07
## 710395   10    rs17094724  ALL  G  A    7/19/323 0.054440 0.09009 6.073e-07
## 712381   10     rs2420703  ALL  T  C    7/18/329 0.050850 0.08631 3.235e-07
## 712921   10    rs11199747  ALL  G  A   27/74/228 0.224900 0.31340 1.117e-06
## 718090   10     rs4751101  ALL  A  C    8/26/307 0.076250 0.11560 2.679e-06
## 719488   10    rs11017929  ALL  C  T  18/188/138 0.546500 0.43920 3.439e-06
## 731848   11    rs11026518  ALL  A  C   15/50/280 0.144900 0.20500 1.753e-06
## 733867   11     rs7123118  ALL  T  C   41/83/194 0.261000 0.38430 2.072e-08
## 733966   11     rs7107869  ALL  C  T  58/108/163 0.328300 0.44910 1.017e-06
## 735352   11     rs3858431  ALL  C  T   25/73/237 0.217900 0.29980 2.867e-06
## 739369   11     rs2061640  ALL  C  T     6/3/340 0.008596 0.04206 2.147e-11
## 744046   11      rs526821  ALL  G  A  78/127/148 0.359800 0.48030 2.230e-06
## 744184   11    rs17510445  ALL  G  T   12/27/305 0.078490 0.13730 2.510e-09
## 746338   11     rs7924942  ALL  C  T   19/46/279 0.133700 0.21440 2.125e-09
## 747955   11      rs314779  ALL  G  T  10/171/165 0.494200 0.39970 5.009e-06
## 749914   11    rs11236181  ALL  C  A   16/48/284 0.137900 0.20350 2.030e-07
## 756691   11    rs17193643  ALL  C  T   15/41/289 0.118800 0.18460 3.418e-08
## 757393   11    rs11019401  ALL  G  C   10/32/312 0.090400 0.13610 8.137e-07
## 774541   11    rs10893442  ALL  T  G   17/47/284 0.135100 0.20570 3.689e-08
## 775705   11    rs11221013  ALL  A  T   13/47/271 0.142000 0.19620 9.867e-06
## 779641   11    rs12574564  ALL  G  A   6/160/191 0.448200 0.36570 7.188e-06
## 783808   12    rs11056665  ALL  C  T   17/58/259 0.173700 0.23750 6.727e-06
## 786364   12    rs11055477  ALL  G  T   14/44/283 0.129000 0.18890 6.049e-07
## 788854   12    rs10450676  ALL  G  A   10/18/326 0.050850 0.10160 3.326e-10
## 792823   12     rs3825246  ALL  G  A  50/103/171 0.317900 0.43030 3.616e-06
## 793177   12     rs7294633  ALL  C  T  51/106/169 0.325200 0.43450 5.233e-06
## 796345   12     rs1607040  ALL  C  G   12/35/303 0.100000 0.15440 1.396e-07
## 802999   12    rs10783767  ALL  G  A  71/119/141 0.359500 0.47760 5.177e-06
## 810238   12     rs6582220  ALL  G  A    8/22/322 0.062500 0.10210 3.132e-07
## 812179   12    rs17046167  ALL  C  T   10/27/314 0.076920 0.12490 8.215e-08
## 813448   12    rs17009733  ALL  G  C   14/45/271 0.136400 0.19670 1.397e-06
## 820618   12     rs4764927  ALL  G  T  53/109/169 0.329300 0.43860 7.232e-06
## 824662   12     rs4964596  ALL  T  C   41/97/212 0.277100 0.38060 7.588e-07
## 825199   12    rs17760337  ALL  C  T   21/59/247 0.180400 0.26120 2.905e-07
## 825298   12      rs888551  ALL  C  T   21/65/239 0.200000 0.27500 3.754e-06
## 826558   12     rs7970839  ALL  G  A   11/31/289 0.093660 0.14730 1.901e-07
## 836122   12     rs4964998  ALL  A  C   11/41/305 0.114800 0.16090 6.186e-06
## 839842   13     rs3117848  ALL  A  G   15/40/277 0.120500 0.18860 3.595e-08
## 843229   13      rs623441  ALL  A  G   10/34/292 0.101200 0.14780 3.119e-06
## 846985   13     rs7986707  ALL  C  G  84/135/144 0.371900 0.48630 6.987e-06
## 847024   13     rs2875298  ALL  C  T    6/20/327 0.056660 0.08654 8.168e-06
## 854482   13     rs9538095  ALL  C  G   45/209/82 0.622000 0.49390 2.485e-06
## 857014   13     rs2324687  ALL  C  T   15/50/281 0.144500 0.20450 1.687e-06
## 858691   13    rs11618357  ALL  A  G   37/89/200 0.273000 0.37500 1.997e-06
## 858796   13    rs17086184  ALL  C  T   18/50/274 0.146200 0.21980 5.813e-08
## 861685   13     rs1954138  ALL  C  T  78/110/137 0.338500 0.48350 4.301e-08
## 871960   13      rs725834  ALL  T  G  27/201/123 0.572600 0.46260 8.029e-06
## 879550   13    rs12583597  ALL  G  A    8/18/310 0.053570 0.09607 4.912e-08
## 879586   14     rs4983173  ALL  T  G   1/154/178 0.462500 0.35870 9.093e-10
## 881833   14    rs17106805  ALL  C  A   12/38/288 0.112400 0.16660 7.996e-07
## 895669   14    rs12100548  ALL  G  A   11/35/299 0.101400 0.15160 7.804e-07
## 905833   14    rs17703828  ALL  C  T   24/72/238 0.215600 0.29470 4.908e-06
## 908032   14    rs11623367  ALL  A  G    9/31/308 0.089080 0.13090 3.303e-06
## 909877   14     rs4900208  ALL  A  G  29/199/108 0.592300 0.47240 2.576e-06
## 913615   14     rs6575760  ALL  G  A   11/34/289 0.101800 0.15360 7.019e-07
## 915706   15     rs8034683  ALL  G  A   29/79/235 0.230300 0.31960 1.498e-06
## 919927   15    rs16960205  ALL  C  T    6/16/334 0.044940 0.07556 1.127e-06
## 922057   15     rs4924361  ALL  A  T   20/56/265 0.164200 0.24190 9.936e-08
## 925597   15     rs2011064  ALL  G  C  54/105/184 0.306100 0.42820 2.268e-07
## 926482   15     rs8043320  ALL  T  C     4/9/326 0.026550 0.04889 5.987e-06
## 932803   15     rs1531441  ALL  G  A   24/76/247 0.219000 0.29350 7.467e-06
## 936832   15     rs7166639  ALL  A  G   13/45/281 0.132700 0.18750 3.513e-06
## 936976   15    rs10851919  ALL  T  A   33/205/83 0.638600 0.48790 2.311e-08
## 937567   15     rs4778588  ALL  C  T  53/112/172 0.332300 0.43770 8.990e-06
## 946066   15     rs1879612  ALL  C  T  76/124/139 0.365800 0.48270 8.146e-06
## 951991   16     rs1079350  ALL  A  G  80/116/130 0.355800 0.48820 7.253e-07
## 954955   16     rs4781448  ALL  C  G   30/80/227 0.237400 0.32910 1.003e-06
## 956842   16    rs11865082  ALL  A  G   53/215/73 0.630500 0.49830 1.222e-06
## 960367   16     rs4787447  ALL  T  C   10/36/297 0.105000 0.14990 5.740e-06
## 965473   16    rs12596776  ALL  C  G   13/37/297 0.106600 0.16510 8.501e-08
## 978217   16    rs16958749  ALL  G  C   14/44/270 0.134100 0.19540 9.945e-07
## 982561   17     rs4968070  ALL  A  G   41/214/86 0.627600 0.49130 2.615e-07
## 983431   17      rs923375  ALL  C  T   20/62/251 0.186200 0.25940 1.860e-06
## 986212   17     rs8078037  ALL  G  A   1/136/218 0.383100 0.31320 1.384e-06
## 986962   17     rs1714984  ALL  A  G   34/91/213 0.269200 0.35980 5.760e-06
## 1009222  18     rs2580149  ALL  C  T  55/107/158 0.334400 0.44820 4.765e-06
## 1009660  18      rs616031  ALL  T  C     4/6/334 0.017440 0.03987 7.108e-07
## 1015924  18     rs9947011  ALL  T  C   28/76/214 0.239000 0.32890 2.944e-06
## 1024435  18    rs11878064  ALL  G  A   42/97/200 0.286100 0.39140 1.124e-06
## 1031545  18 snp_a-2228215  ALL  C  T     6/9/324 0.026550 0.06003 1.596e-08
## 1032442  18    rs11878133  ALL  G  A    6/14/322 0.040940 0.07313 4.684e-07
## 1032925  18     rs9807306  ALL  A  T   0/116/226 0.339200 0.28170 6.852e-06
## 1035019  18    rs12956627  ALL  C  T    8/19/307 0.056890 0.09930 9.277e-08
## 1041556  18      rs732771  ALL  A  G   12/31/302 0.089860 0.14670 2.256e-08
## 1050112  19     rs1102152  ALL  T  C   13/47/290 0.134300 0.18680 5.169e-06
## 1052599  19    rs10422017  ALL  C  T  65/110/155 0.333300 0.46280 3.480e-07
## 1052827  19        rs7412  ALL  T  C   13/29/322 0.079670 0.13970 6.600e-10
## 1053259  19     rs2974215  ALL  C  T   12/45/292 0.128900 0.17820 8.986e-06
## 1055227  19    rs10853870  ALL  A  G  24/203/121 0.583300 0.46120 6.504e-07
## 1064155  20    rs16993822  ALL  C  T   54/98/170 0.304300 0.43510 7.397e-08
## 1066621  20     rs6044761  ALL  T  G   12/41/298 0.116800 0.16800 1.834e-06
## 1069909  20    rs16985266  ALL  G  A    8/21/313 0.061400 0.10230 2.329e-07
## 1071013  20     rs8183079  ALL  A  G  63/120/173 0.337100 0.45230 1.728e-06
## 1073299  20     rs2179318  ALL  C  T  59/112/163 0.335300 0.45150 2.592e-06
## 1073302  20     rs7270784  ALL  T  C  51/113/196 0.313900 0.41890 3.499e-06
## 1082767  20     rs4810120  ALL  T  C  95/121/114 0.366700 0.49830 1.418e-06
## 1085788  21     rs2246835  ALL  A  G  10/178/149 0.528200 0.41490 1.365e-07
## 1091239  21 snp_a-2017079  ALL  G  A   28/76/230 0.227500 0.31710 8.070e-07
## 1099498  21     rs2838011  ALL  G  A    9/33/306 0.094830 0.13580 7.371e-06
## 1108249  22      rs743742  ALL  A  C   21/65/249 0.194000 0.26840 2.196e-06
## 1115374  22     rs2024700  ALL  T  G   31/87/223 0.255100 0.34150 7.743e-06
## 1123111  23     rs5928121  ALL  C  T    28/43/93 0.262200 0.42150 1.359e-06
## 1123741  23     rs6629045  ALL  G  A    8/15/133 0.096150 0.17900 3.136e-06
## 1130374  23    rs12398458  ALL  G  A     7/7/154 0.041670 0.11720 1.793e-08
## 1137220  23     rs2206232  ALL  G  A   11/21/121 0.137300 0.24160 2.553e-06
##         P_bin minus_log10P
## 5539        1     5.273028
## 10975       1     6.050366
## 15025       1     5.514137
## 19678       1     7.495937
## 21265       1     5.386581
## 23785       1     6.655804
## 27025       1     6.540155
## 28645       1     5.573326
## 29527       1     5.480303
## 29614       1     7.974285
## 31561       1     5.084970
## 46723       1     5.601539
## 46822       1     6.167874
## 49084       1     8.002090
## 49750       1     5.023788
## 56656       1     5.070785
## 59926       1     5.083704
## 65890       1     5.772113
## 66598       1     5.211761
## 66700       1     5.724228
## 70558       1     5.325139
## 73417       1     5.855115
## 81343       1     5.612966
## 81937       1     5.023467
## 82291       1     6.447575
## 83707       1     5.988853
## 87778       1     6.873869
## 95533       1     5.053646
## 111655      1     5.011263
## 111925      1     5.787812
## 112390      1     5.427593
## 117274      1     6.503624
## 119263      1     5.258612
## 124063      1     5.638650
## 131515      1     5.326150
## 136447      1     5.119987
## 142570      1     5.514847
## 149569      1     6.318759
## 155782      1    12.378720
## 157828      1     5.053646
## 160444      1     7.181444
## 160534      1     5.214670
## 160978      1     5.610125
## 186715      1     5.443456
## 186979      1     6.028492
## 187279      1     8.994391
## 192580      1     7.691222
## 196513      1     6.403513
## 196750      1     5.125170
## 196813      1     5.777544
## 197365      1     5.257668
## 198562      1     5.330033
## 201574      1     5.128427
## 205732      1     5.005903
## 212689      1     5.077742
## 212713      1     5.138107
## 217693      1     5.824778
## 219823      1     5.730721
## 224422      1     5.290476
## 239239      1     5.113735
## 241954      1     5.051881
## 248263      1     5.095068
## 248719      1     5.823041
## 250339      1     5.988007
## 253483      1     5.074224
## 254362      1     5.542724
## 258370      1     7.369470
## 263617      1     5.373968
## 266386      1     9.253210
## 268561      1     6.369979
## 271756      1     5.092374
## 281524      1     5.086451
## 283720      1     5.197705
## 283780      1     6.200453
## 293845      1     5.066057
## 294445      1     5.823619
## 294652      1     7.231954
## 298777      1     6.835647
## 303172      1     7.000261
## 304864      1     5.436875
## 306601      1     5.668573
## 312376      1     5.209856
## 315193      1     5.564793
## 315691      1     5.396639
## 317419      1     5.007579
## 319504      1     6.148253
## 329668      1     5.127203
## 339097      1     6.112214
## 339139      1     5.324955
## 343795      1     5.546835
## 354736      1     6.164880
## 355492      1     5.905878
## 357592      1     6.287687
## 359584      1     7.322302
## 359716      1     6.926282
## 364009      1     7.569764
## 367591      1     9.374996
## 368005      1     6.094474
## 377116      1     5.044072
## 378994      1     6.037252
## 380134      1     8.253055
## 384943      1     5.732359
## 403423      1     8.071655
## 405823      1     5.484921
## 417547      1     5.293965
## 418000      1     8.000043
## 421120      1     5.073452
## 421801      1     7.090390
## 423724      1     5.293624
## 424291      1     5.591760
## 437122      1     5.744004
## 437350      1     6.671417
## 440485      1     5.235002
## 442045      1     6.093126
## 446575      1     5.397506
## 452491      1     6.515131
## 454087      1     7.524910
## 458545      1     5.186086
## 459394      1     7.257432
## 459424      1     5.273273
## 461680      1     5.177897
## 463009      1     5.288193
## 470494      1     7.357041
## 470719      1     6.185153
## 475855      1     5.311936
## 481057      1     6.382057
## 482059      1     5.679023
## 488632      1     5.962175
## 503485      1     8.722849
## 504871      1     5.110026
## 507385      1     6.792904
## 508285      1     7.439137
## 512086      1     5.764724
## 519808      1     5.696588
## 522961      1     6.253521
## 525394      1     5.187889
## 525580      1     5.056258
## 526900      1     5.319937
## 528502      1     8.594312
## 529885      1     7.709743
## 530143      1     8.904134
## 534766      1     5.133890
## 536764      1     5.825649
## 539056      1     5.849858
## 539815      1     7.234331
## 548686      1     5.142969
## 552811      1     5.564315
## 556678      1     6.620876
## 568729      1     6.081079
## 574618      1     5.057446
## 575473      1     5.981300
## 578194      1     5.008552
## 579004      1     9.942714
## 585775      1     5.165961
## 595174      1     6.433680
## 599152      1     7.011932
## 602005      1     7.526513
## 602695      1     5.014035
## 605794      1     5.100508
## 608512      1     5.064493
## 613915      1     7.374688
## 614257      1     6.530915
## 620695      1     5.176200
## 634354      1     5.232251
## 639478      1     7.679854
## 649807      1     5.707522
## 650857      1     5.001523
## 655102      1     5.040100
## 657760      1     6.336582
## 664027      1     5.186686
## 664096      1     6.059982
## 664786      1     5.072014
## 665821      1     5.454322
## 668584      1     6.138764
## 673000      1     5.064040
## 676270      1     8.422623
## 682003      1    13.388595
## 686068      1     6.168386
## 687439      1     6.348431
## 708760      1     6.566230
## 710395      1     6.216597
## 712381      1     6.490126
## 712921      1     5.951947
## 718090      1     5.572027
## 719488      1     5.463568
## 731848      1     5.756218
## 733867      1     7.683610
## 733966      1     5.992679
## 735352      1     5.542572
## 739369      1    10.668168
## 744046      1     5.651695
## 744184      1     8.600326
## 746338      1     8.672641
## 747955      1     5.300249
## 749914      1     6.692504
## 756691      1     7.466228
## 757393      1     6.089536
## 774541      1     7.433091
## 775705      1     5.005815
## 779641      1     5.143392
## 783808      1     5.172179
## 786364      1     6.218316
## 788854      1     9.478078
## 792823      1     5.441772
## 793177      1     5.281249
## 796345      1     6.855115
## 802999      1     5.285922
## 810238      1     6.504178
## 812179      1     7.085392
## 813448      1     5.854804
## 820618      1     5.140742
## 824662      1     6.119873
## 825199      1     6.536854
## 825298      1     5.425506
## 826558      1     6.721018
## 836122      1     5.208590
## 839842      1     7.444301
## 843229      1     5.505985
## 846985      1     5.155709
## 847024      1     5.087884
## 854482      1     5.604674
## 857014      1     5.772885
## 858691      1     5.699622
## 858796      1     7.235600
## 861685      1     7.366431
## 871960      1     5.095339
## 879550      1     7.308742
## 879586      1     9.041293
## 881833      1     6.097127
## 895669      1     6.107683
## 905833      1     5.309095
## 908032      1     5.481091
## 909877      1     5.589054
## 913615      1     6.153725
## 915706      1     5.824488
## 919927      1     5.948076
## 922057      1     7.002788
## 925597      1     6.644357
## 926482      1     5.222791
## 932803      1     5.126854
## 936832      1     5.454322
## 936976      1     7.636200
## 937567      1     5.046240
## 946066      1     5.089056
## 951991      1     6.139482
## 954955      1     5.998699
## 956842      1     5.912929
## 960367      1     5.241088
## 965473      1     7.070530
## 978217      1     6.002395
## 982561      1     6.582528
## 983431      1     5.730487
## 986212      1     5.858864
## 986962      1     5.239578
## 1009222     1     5.321937
## 1009660     1     6.148253
## 1015924     1     5.531062
## 1024435     1     5.949234
## 1031545     1     7.796967
## 1032442     1     6.329383
## 1032925     1     5.164183
## 1035019     1     7.032592
## 1041556     1     7.646661
## 1050112     1     5.286593
## 1052599     1     6.458421
## 1052827     1     9.180456
## 1053259     1     5.046434
## 1055227     1     6.186819
## 1064155     1     7.130944
## 1066621     1     5.736601
## 1069909     1     6.632831
## 1071013     1     5.762456
## 1073299     1     5.586365
## 1073302     1     5.456056
## 1082767     1     5.848324
## 1085788     1     6.864867
## 1091239     1     6.093126
## 1099498     1     5.132474
## 1108249     1     5.658368
## 1115374     1     5.111091
## 1123111     1     5.866781
## 1123741     1     5.503624
## 1130374     1     7.746420
## 1137220     1     5.592949
## 
## $p_hwe

##MAF fails

fail_maf <- check_maf(indir, name, qcdir=indir, path2plink=path2plink, 
                      mafTh=0.01, macTh=NULL,
                      interactive=TRUE, verbose=TRUE, showPlinkOutput=FALSE)
## File with individuals that failed perIndividualQC: C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas.fail.IDs does not exist. Continue check_maf for all samples in C:/Users/GrandProf/Documents/adgwas1/plink_win64_20220402/input/binary_adgwas.fam
## The mafTh is 0.01 which corresponds to a mcfTh=7.28

SNP QC

fail_markers <- perMarkerQC(indir=indir, qcdir=qcdir, name=name, path2plink=path2plink,
                            lmissTh = 0.10, 
                            hweTh = 1e-05,
                            mafTh=0.01, macTh=NULL,
                            verbose=TRUE, interactive=TRUE, showPlinkOutput=FALSE)
## Identification of SNPs with high missingness rate
## Identification of SNPs with deviation from HWE
## Remove markers with a low minor allele frequency
## The mafTh is 0.01 which corresponds to a mcfTh=7.08

overview_marker <- overviewPerMarkerQC(fail_markers, interactive=TRUE)

Create a clean data set

Ids  <- cleanData(indir=indir, qcdir=qcdir, name=name, path2plink=path2plink, 
                  filterSex=FALSE, filterRelated=FALSE, filterAncestry=FALSE,
                  verbose=TRUE, showPlinkOutput=FALSE)
## Read individual IDs that failed heterozygosity check
## Read individual IDs that failed missingness check
## No individuals failed missingness check
## Write file with remove IDs
## The macTh is 20 which corresponds to a mafTh=0.028249
## Remove individual IDs and markers IDs that failed QC

Run the association test

assoc = paste(path2plink, ' --bfile ', qcdir, '/', name, '.clean --logistic --allow-no-sex --ci 0.95 --out ', qcdir, '/load', sep='')
system(assoc, intern=FALSE)
## [1] 0

No HapMap corrections

  • Not that i know what that means but we fail to perform hapmap corrections
  • check out detailed code for that
  • this is just a technical skill check to ensure that i know what is going on in R
  • i have a rough idea what is happening but like 5%

Application to lupus

  • The hope is to apply this in improving gwas studies on lupus