diff --git a/README.md b/README.md index 6bdbc490..a236c05b 100644 --- a/README.md +++ b/README.md @@ -305,34 +305,38 @@ $ varfish-server-worker strucvars query \ --path-output OUT.jsonl ``` -The worker database has the following structure: +The worker database has the following structure. +Note that also mehari transcripts are read, thus the `mehari/` directory is included. ``` -$ROOT/ +mehari/ + {genome_release}/ + txs.bin.zst +worker/ noref/ genes/ - acmg.tsv -- ACMG SF list genes - mim2gene.tsv -- OMIM to NCBI mapping from clingen - xlink.bin -- gene crosslinks - {genome_release}/ -- one per genome release + acmg.tsv -- ACMG SF list genes + mim2gene.tsv -- OMIM to NCBI mapping from clingen + xlink.bin -- gene crosslinks + {genome_release}/ -- one per genome release mehari/ - txs.bin.zstd -- mehari transcripts - features/ -- features important for annotation - masked_repeat.bin -- masked repeats - masked_seqdup.bin -- masked segmental duplications - strucvars/ -- structural variant specific - bgdbs/ -- background databases - dbvar.bin -- dbVar - dgv.bin -- DGV - dgv-gs.bin -- DGV gold standard - exac.bin -- ExAC CNVs - g1k.bin -- 1000 genomes CNVs - gnomad.bin -- gnomAD-SVs - clinvar.bin -- ClinVar SVs - inhouse.bin -- inhouse SV database - patho-mms.bed -- well-known pathogenic DELs/DUPs + txs.bin.zstd -- mehari transcripts + features/ -- features important for annotation + masked_repeat.bin -- masked repeats + masked_seqdup.bin -- masked segmental duplications + strucvars/ -- structural variant specific + bgdbs/ -- background databases + dbvar.bin -- dbVar + dgv.bin -- DGV + dgv_gs.bin -- DGV gold standard + g1k.bin -- 1000 genomes CNVs + gnomad_exomes.bin -- gnomAD-exomes/ExAC SVs + gnomad_genomes.bin -- gnomAD-genomes SVs + clinvar.bin -- ClinVar SVs + inhouse.bin -- inhouse SV database + patho_mms.bed -- well-known pathogenic DELs/DUPs tads/ - hesc.bed -- hESC TAD definitions + hesc.bed -- hESC TAD definitions ``` # Developer Information diff --git a/src/strucvars/query/pathogenic.rs b/src/strucvars/query/pathogenic.rs index 40d9c569..929b1bf4 100644 --- a/src/strucvars/query/pathogenic.rs +++ b/src/strucvars/query/pathogenic.rs @@ -178,7 +178,7 @@ pub fn load_patho_dbs( let result = PathoDbBundle { mms: load_patho_db_records( Path::new(path_db) - .join(format!("{}/strucvars/patho-mms.bed", genome_release)) + .join(format!("{}/strucvars/patho_mms.bed", genome_release)) .as_path(), )?, }; diff --git a/tests/strucvars/query/db/bootstrap.sh b/tests/strucvars/query/db/bootstrap.sh index 224328a2..4727dea5 100644 --- a/tests/strucvars/query/db/bootstrap.sh +++ b/tests/strucvars/query/db/bootstrap.sh @@ -1,3 +1,3 @@ version https://git-lfs.github.com/spec/v1 -oid sha256:c32cd872a23bd04a679ed86e4b14af4142193613116be739a1cb3c057f83be35 +oid sha256:969a4f7c6048cb24ca50f328e62e33b456b28995a6b9907b29e481548015952b size 10897 diff --git a/tests/strucvars/query/db/worker/grch37/strucvars/patho-mms.bed b/tests/strucvars/query/db/worker/grch37/strucvars/patho_mms.bed similarity index 100% rename from tests/strucvars/query/db/worker/grch37/strucvars/patho-mms.bed rename to tests/strucvars/query/db/worker/grch37/strucvars/patho_mms.bed