From 6b2486a3fe56a2c4f8b355e696f152a2d1037abe Mon Sep 17 00:00:00 2001 From: Justin Bedo Date: Wed, 25 Sep 2019 15:35:23 +1000 Subject: grch37: add dbsnp --- lib/references.nix | 12 ++++++++++++ 1 file changed, 12 insertions(+) diff --git a/lib/references.nix b/lib/references.nix index 7f754d6..f328bb9 100644 --- a/lib/references.nix +++ b/lib/references.nix @@ -15,6 +15,18 @@ rec { buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; + dbsnp = stage { + name = "dbsnp-b151_GRCh37p13"; + src = pkgs.fetchurl { + url = "ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b151_GRCh37p13/VCF/common_all_20180423.vcf.gz"; + sha256 = "0jf71h5wy82xhgsjkvp05mj2grjrjlnswmr0wz4lb87g3ip3c2mm"; + }; + buildInputs = with pkgs; [ gawk ]; + buildCommand = '' + gunzip < $src | awk '/^[^#]/{print "chr" $0;next}{print}' > $out + ''; + passthru.filetype = filetype.vcf { ref = seq; }; + }; ensembl = let version = "74"; in { cdna = stage { name = "ensembl-grch37-cdna-${version}"; -- cgit v1.2.3