Skip to content

Commit

Permalink
feat: adding DECIPHER HI to annonars genes
Browse files Browse the repository at this point in the history
  • Loading branch information
holtgrewe committed Nov 22, 2023
1 parent ad9e3fa commit e1c2597
Show file tree
Hide file tree
Showing 2 changed files with 4 additions and 5 deletions.
2 changes: 1 addition & 1 deletion environment.yml
Original file line number Diff line number Diff line change
Expand Up @@ -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
Expand Down
7 changes: 3 additions & 4 deletions rules/output/annonars/genes.smk
Original file line number Diff line number Diff line change
Expand Up @@ -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}/"
Expand All @@ -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} \
Expand All @@ -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 \
Expand Down

0 comments on commit e1c2597

Please sign in to comment.