{ bionix }: with bionix; with types; rec { grch38 = grch38-p12; grch38-p12 = rec { seq = stage rec { name = "seq-grch38.${version}"; version = "p12"; src = pkgs.fetchurl { url = "ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_human/release_28/GRCh38.p12.genome.fa.gz"; sha256 = "0ji2ggpmgnbpwbhq8mirj6h3lyy02nl2rnz7n892iq5cqpsblh4z"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; blacklist = stage { name = "blacklist-grch38"; src = pkgs.fetchurl { url = "http://mitra.stanford.edu/kundaje/akundaje/release/blacklists/hg38-human/hg38.blacklist.bed.gz"; sha256 = "1lpnqq1mjidbdxj5i6x26rxa8x1rs8q3hlf0z1z49j3jsnkgffky"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.bed { ref = seq; }; }; dbsnp = stage { name = "dbsnp-b151_GRCh38p7"; src = pkgs.fetchurl { url = "ftp://ftp.ncbi.nlm.nih.gov/snp/organisms/human_9606_b151_GRCh38p7/VCF/common_all_20180418.vcf.gz"; sha256 = "0r6m2yrcfw8bbdca515axjls30ssjas6x3qwi5qz07l3prjwmdd4"; }; buildInputs = [ gawk ]; buildCommand = '' gunzip < $src | awk '/^[^#]/{print "chr" $0;next}{print}' > $out ''; passthru.filetype = filetype.vcf { ref = seq; }; }; cosmic = {coding, noncoding}: stage rec { name = "cosmic-grch38"; buildInputs = [ gawk ]; buildCommand = '' gunzip < ${coding} | grep '^#' > $out cat ${coding} ${noncoding} | gunzip | grep -v '^#' | sed 's/^/chr/' | sort -t$'\t' -k1,1 -k2,2n >> $out ''; passthru.filetype = filetype.vcf { ref = seq; }; }; ensembl = { cdna = stage rec { name = "ensembl-grch38-cdna-${version}"; version = "94"; src = pkgs.fetchurl { url = "ftp://ftp.ensembl.org/pub/release-${version}/fasta/homo_sapiens/cdna/Homo_sapiens.GRCh38.cdna.all.fa.gz"; sha256 = "1fc5d6p2wlwsm49wnmxmm3byjx5jvr6z9fpzrq7v7fpb086adl0h"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; ncrna = stage rec { name = "ensembl-grch38-ncrna-${version}"; version = "94"; src = pkgs.fetchurl { url = "ftp://ftp.ensembl.org/pub/release-${version}/fasta/homo_sapiens/ncrna/Homo_sapiens.GRCh38.ncrna.fa.gz"; sha256 = "1cpasykwriila52nqgvw6d3mjyh6d9qi613hvhn4h1dxkqzgnjff"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; }; snpeff = { db = stdenv.mkDerivation rec { name = "GRCh38.86"; src = pkgs.fetchurl { url = "mirror://sourceforge/project/snpeff/databases/v4_3/snpEff_v4_3_${name}.zip"; sha256 = "1rf8q7l732ayjq2lpny4s75zpij05j00151374nqblk4wri2mz0i"; }; buildInputs = [ unzip ]; buildCommand = '' unzip ${src} mv data/${name} $out ''; }; dbnsfp = { db = pkgs.requireFile { name = "dbNSFP.txt.gz"; message = "download the dbNSFP database manually from https://drive.google.com/uc?export=download&id=0B7Ms5xMSFMYlbTZodjlGUDZnTGc and add to nix store"; sha256 = "0gahnwkc7v2q6p6ixkhvsgqvvm6xf0c3bdh4nf0alih83h3wffd0"; }; index = pkgs.requireFile { name = "dbNSFP.txt.gz.tbi"; message = "download the dbNSFP index manually from https://drive.google.com/uc?export=download&id=0B7Ms5xMSFMYlNVBJdFA5cFZRYkE and add to nix store"; sha256 = "18blkly6gvg7r0sx968xlb1zl2kqg5j1kpbrm2r7ajlxlfyvrx3w"; }; }; }; UCSCgenes = stage { name = "UCSCgenes"; src = pkgs.fetchurl { url = "http://hgdownload.soe.ucsc.edu/goldenPath/hg38/database/refFlat.txt.gz"; sha256 = "1f53myn4vpvswzssx2xsiq9si8w58gpcm0f32srq220w36hq9md4"; }; buildCommand = "gunzip < $src > $out"; }; }; grcm38 = grcm38-p6; grcm38-p6 = { seq = stage rec { name = "seq-grcm38.${version}"; version = "p6"; src = pkgs.fetchurl { url = "ftp://ftp.ebi.ac.uk/pub/databases/gencode/Gencode_mouse/release_M19/GRCm38.${version}.genome.fa.gz"; sha256 = "0ryiqab5bldpzawylsk2qpjxr2j701q03ww9jqyxhkimqpn9g3mr"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; ensembl = { cdna = stage rec { name = "ensembl-grch38-cdna-${version}"; version = "94"; src = pkgs.fetchurl { url = "ftp://ftp.ensembl.org/pub/release-${version}/fasta/mus_musculus/cdna/Mus_musculus.GRCm38.cdna.all.fa.gz"; sha256 = "0khp9l6s35lav2xqp7vkk6ybnz4wjihn7lapjf2lbpnbzjb4hp6d"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; ncrna = stage rec { name = "ensembl-grch38-ncrna-${version}"; version = "94"; src = pkgs.fetchurl { url = "ftp://ftp.ensembl.org/pub/release-${version}/fasta/mus_musculus/ncrna/Mus_musculus.GRCm38.ncrna.fa.gz"; sha256 = "0d997gm8p2b89rm5d46m2x4vz9lijxarfr2lzylnbi8gyqrbagdd"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; }; }; mm10 = mm10-p4; mm10-p4 = { seq = stage rec { name = "seq-mm10.${version}"; version = "p4"; src = pkgs.fetchurl { url = "http://hgdownload.soe.ucsc.edu/goldenPath/mm10/mm10Patch4/mm10Patch4.fa.gz"; sha256 = "1660d6d05f3aa266c6053cfd1efef1747d9e854836917241d6f47cff7a55340c"; }; buildCommand = "gunzip < $src > $out"; passthru.filetype = filetype.fa {}; }; }; }