From e1c259787bb966da5cca8b6f92fffe48b62749f8 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 22 Nov 2023 08:32:16 +0100 Subject: [PATCH] feat: adding DECIPHER HI to annonars genes --- environment.yml | 2 +- rules/output/annonars/genes.smk | 7 +++---- 2 files changed, 4 insertions(+), 5 deletions(-) diff --git a/environment.yml b/environment.yml index ae69a76..a74e265 100644 --- a/environment.yml +++ b/environment.yml @@ -41,7 +41,7 @@ dependencies: # Parallel (de)compression. - pigz # Varfish related - - annonars =0.27.0 + - annonars =0.28.0 - viguno =0.1.6 - mehari =0.6.2 - varfish-server-worker =0.10.1 diff --git a/rules/output/annonars/genes.smk b/rules/output/annonars/genes.smk index 8a40cdf..622cd6c 100644 --- a/rules/output/annonars/genes.smk +++ b/rules/output/annonars/genes.smk @@ -16,6 +16,7 @@ rule output_annonars_genes: # -- build annonars genes RocksDB file shet="work/genes/shet/2019/shet_weghorn_2019.tsv", gtex="work/genes/annonars/gtex_v8/genes_tpm.jsonl.gz", domino="work/genes/domino/20190219/domino.tsv", + decipher_hi="work/genes/decipher/v3/decipher_hi_prediction.tsv.gz", output: rocksdb_identity=( "output/full/annonars/genes-{v_acmg_sf}+{v_gnomad_constraints}+{v_dbnsfp}+{v_hpo}+{v_orpha}+{date}+{v_annonars}/" @@ -36,14 +37,11 @@ rule output_annonars_genes: # -- build annonars genes RocksDB file export TMPDIR=$(mktemp -d) trap "rm -rf $TMPDIR" EXIT - tail -n +4 {input.clingen} > $TMPDIR/clingen.csv - annonars gene import \ --path-out-rocksdb $(dirname {output.rocksdb_identity}) \ --path-in-acmg {input.acmg_sf} \ --path-in-clingen-37 {input.clingen_37} \ --path-in-clingen-38 {input.clingen_38} \ - --path-in-clingen $TMPDIR/clingen.csv \ --path-in-gnomad-constraints {input.gnomad_constraints} \ --path-in-dbnsfp {input.dbnsfp} \ --path-in-hgnc {input.hgnc} \ @@ -53,7 +51,8 @@ rule output_annonars_genes: # -- build annonars genes RocksDB file --path-in-rcnv {input.rcnv} \ --path-in-shet {input.shet} \ --path-in-gtex {input.gtex} \ - --path-in-domino {input.domino} + --path-in-domino {input.domino} \ + --path-in-decipher-hi {input.decipher_hi} varfish-db-downloader tpl \ --template rules/output/annonars/genes.spec.yaml \