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Commit 37ddc34

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minor fixes suggested by coderabbitai
1 parent 16fe126 commit 37ddc34

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-5
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+5
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data/acmg_sf/3.3/acmg_sf.spec.yaml

Lines changed: 3 additions & 3 deletions
Original file line numberDiff line numberDiff line change
@@ -7,7 +7,7 @@ dc.description: >
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and then translated to ENSEMBL and Entrez/NCBI gene ID with the
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HGNC BioMart
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dc.date: 2026-02-09
10-
dc.creator: American Collect of Medical Genetics
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dc.creator: American College of Medical Genetics
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dc.contributor:
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- VarFish Developer Team
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dc.source:
@@ -30,12 +30,12 @@ tsv.columns:
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- name: disease_phenotype
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description: Name of the relevant disorder(s).
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- name: disorder_mim
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description: MIM code of the relevant disorder(s).s
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description: MIM code of the relevant disorder(s).
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- name: phenotype_category
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description: Phenotype category.
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- name: inheritance
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description: Mode(s) of inheritance.
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- name: sf_list_version
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description: ACMG SF list version that this gene first appeared in.
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- name: variants_to_report
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description: comment on which variants are to be reported.
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description: Comment on which variants are to be reported.

scripts/enrich_acmg_sf.py

Lines changed: 2 additions & 2 deletions
Original file line numberDiff line numberDiff line change
@@ -44,7 +44,7 @@ def fetch_gene_info_from_hgnc(gene_symbol: str) -> Optional[Dict[str, str]]:
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return {
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"hgnc_id": doc.get("hgnc_id", ""),
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"ensembl_gene_id": doc.get("ensembl_gene_id", ""),
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"ncbi_gene_id": doc.get("entrez_id", ""),
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"ncbi_gene_id": str(doc.get("entrez_id", "")),
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"gene_symbol": doc.get("symbol", gene_symbol),
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}
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else:
@@ -117,7 +117,6 @@ def process_acmg_sf_file(input_file: str, output_file: str, delay: float = 0.2):
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gene_info = fetch_gene_info_from_hgnc(gene_symbol)
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if gene_info:
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gene_cache[gene_symbol] = gene_info
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time.sleep(delay) # Be respectful to the API
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else:
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# Create empty entry if not found
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gene_cache[gene_symbol] = {
@@ -126,6 +125,7 @@ def process_acmg_sf_file(input_file: str, output_file: str, delay: float = 0.2):
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"ncbi_gene_id": "",
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"gene_symbol": gene_symbol,
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}
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time.sleep(delay) # Be respectful to the API
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gene_info = gene_cache[gene_symbol]
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