Skip to content

Commit

Permalink
change field name and update tests for ensembl 113
Browse files Browse the repository at this point in the history
  • Loading branch information
apriltuesday committed Oct 17, 2024
1 parent e0fd239 commit 96050a0
Show file tree
Hide file tree
Showing 6 changed files with 1,090 additions and 1,089 deletions.
2 changes: 1 addition & 1 deletion cmat/output_generation/clinvar_to_evidence_strings.py
Original file line number Diff line number Diff line change
Expand Up @@ -238,7 +238,7 @@ def generate_evidence_string(clinvar_record, allele_origins, disease_name, disea
'variantFunctionalConsequenceId': consequence_attributes.so_term.accession,
'variantId': clinvar_record.measure.vcf_full_coords, # CHROM_POS_REF_ALT notation.
'variantRsId': clinvar_record.measure.rs_id,
'variantIdFromSource': clinvar_record.vcv_id,
'variantFromSourceId': clinvar_record.vcv_id,

# PHENOTYPE ATTRIBUTES.
# The alphabetical list of *all* valid disease names from all traits from that ClinVar record, reported as a
Expand Down
Original file line number Diff line number Diff line change
Expand Up @@ -25,6 +25,6 @@
"variantFunctionalConsequenceId": "SO_0001583",
"variantHgvsId": "NC_000014.9:g.67729209A>G",
"variantId": "14_67729209_A_G",
"variantIdFromSource": "VCV000002046",
"variantFromSourceId": "VCV000002046",
"variantRsId": "rs28940313"
}
Original file line number Diff line number Diff line change
Expand Up @@ -22,6 +22,6 @@
"variantFunctionalConsequenceId": "SO_0001583",
"variantHgvsId": "NC_000007.14:g.94423102G>A",
"variantId": "7_94423102_G_A",
"variantIdFromSource": "VCV000374196",
"variantFromSourceId": "VCV000374196",
"variantRsId": "rs1057518967"
}
Original file line number Diff line number Diff line change
Expand Up @@ -25,6 +25,6 @@
"variantFunctionalConsequenceId": "SO_0001583",
"variantHgvsId": "NC_000014.9:g.67729209A>G",
"variantId": "14_67729209_A_G",
"variantIdFromSource": "VCV000002046",
"variantFromSourceId": "VCV000002046",
"variantRsId": "rs28940313"
}
1 change: 1 addition & 0 deletions tests/pipelines/resources/expected/consequences_snp.tsv
Original file line number Diff line number Diff line change
Expand Up @@ -396,6 +396,7 @@
17:63957460:A:G ENSG00000007314 SCN4A missense_variant
17:63971780:C:T ENSG00000007314 SCN4A missense_variant
17:64485735:TG:T ENSG00000256525 POLG2 frameshift_variant
17:64485735:TG:T ENSG00000271605 MILR1 intron_variant
17:6453135:C:T ENSG00000091622 PITPNM3 3_prime_UTR_variant
17:65177778:A:G ENSG00000108370 RGS9 missense_variant
17:65538242:G:C ENSG00000168646 AXIN2 missense_variant
Expand Down
Loading

0 comments on commit 96050a0

Please sign in to comment.