This function generates a PGRM copy with specified ancestry, build, and phecode version
Arguments
- ancestry
A string that indicates the ancestry of the PGRM. Options EAS, EUR, AFR, SAS, AMR, ALL. Default ALL
- build
A string indicating the genome reference build. Options hg19, hg38. Default is hg19.
- phecode_version
A string indicating the phecode version. Currently only V1.2 is supported, which is the default
- unique
If TRUE, then rows are uniqued by SNP/phecode (only relevant when ancestry == 'ALL')
Details
This function returns a copy of the PGRM. The function assigns a column 'SNP' as either SNP_hg19 or SNP_hg38, depending on the build argument. The returned PGRM only includes associations annotated with the specified ancestry, and the risk allele frequency (RAF) is based on the specified ancestry.
Examples
library(pgrm)
## Get a copy of the PGRM for build hg19, East Asian ancestry
get_PGRM(build = 'hg19', ancestry = 'EAS')
#> assoc_ID SNP ancestry rsID risk_allele_dir RAF
#> 1: 7883 4:174444902:G:A EAS rs17059534 alt 0.07270002
#> 2: 7884 4:111718067:G:A EAS rs6843082 ref 0.75449997
#> 3: 7885 4:111761487:T:C EAS rs3853445 ref 0.63690001
#> 4: 7886 1:112392360:G:T EAS rs12044963 alt 0.34810001
#> 5: 7887 1:203026591:A:G EAS rs17461925 ref 0.80930001
#> ---
#> 1211: 306221 6:32575513:C:G EAS rs9271060 alt 0.81039999
#> 1212: 306222 6:83648056:C:T EAS rs293526 alt 0.79761900
#> 1213: 306223 9:117568766:A:G EAS rs6478109 alt 0.47939998
#> 1214: 306224 6:32659443:A:C EAS rs140068907 alt 0.06639999
#> 1215: 311954 18:6282593:A:C EAS rs403814 ref 0.75610000
#> phecode phecode_string category_string cat_LOG10_P cat_OR
#> 1: 427.21 Atrial fibrillation circulatory system 9.522879 1.201000
#> 2: 427.21 Atrial fibrillation circulatory system 126.000000 1.842000
#> 3: 427.21 Atrial fibrillation circulatory system 33.698970 1.330000
#> 4: 427.21 Atrial fibrillation circulatory system 14.397940 1.110000
#> 5: 427.21 Atrial fibrillation circulatory system 10.045757 1.077000
#> ---
#> 1211: 555.1 Regional enteritis digestive 22.000000 2.857143
#> 1212: 555.1 Regional enteritis digestive 10.698970 2.127660
#> 1213: 555.1 Regional enteritis digestive 24.301030 2.083334
#> 1214: 555.1 Regional enteritis digestive 11.000000 1.980000
#> 1215: 401 Hypertension circulatory system 8.221849 1.150000
#> cat_L95 cat_U95 Study_accession pub_count pub_date
#> 1: 1.134 1.271 GCST004373 1 2017-04-17
#> 2: 1.751 1.939 GCST004373 1 2017-04-17
#> 3: 1.271 1.391 GCST004373 1 2017-04-17
#> 4: 1.082 1.140 GCST004373 2 2017-04-17
#> 5: 1.053 1.102 GCST004373 1 2017-04-17
#> ---
#> 1211: 2.330 3.570 GCST003360 1 2016-02-18
#> 1212: 1.690 2.630 GCST003360 1 2016-02-18
#> 1213: 1.820 2.380 GCST003360 1 2016-02-18
#> 1214: 1.620 2.410 GCST003360 1 2016-02-18
#> 1215: 1.070 1.230 GCST003613 1 2016-08-02