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This function generates a PGRM copy with specified ancestry, build, and phecode version

Usage

get_PGRM(
  ancestry = "all",
  build = "hg19",
  phecode_version = "V1.2",
  unique = TRUE
)

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')

Value

A data.table of the PGRM

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