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raymond301 avatar raymond301 commented on August 19, 2024

Looks like this is still an issue with the new python join script, except it outputs two lines now. Both are technically wrong.

variation_type = "Haplotype"
variation_id = "30359"
allele_id = "39315"

clinical_significance = "Benign/Likely benign"
clinical_significance_ordered = ["pathogenic"]

New Flags Look good.
"pathogenic":1,"likely_pathogenic":0,"uncertain_significance":"0","likely_benign":0,"benign":0

But....
allele_id = "39316"
clinical_significance = "Conflicting interpretations of pathogenicity"
clinical_significance_ordered = ["pathogenic"]

from clinvar.

bw2 avatar bw2 commented on August 19, 2024

This may be a clinvar data consistency issue:

join_variant_summary_with_clinvar_alleles.py
generates clinvar_alleles_combined.multi.tsv.gz by joining clinvar_alleles_grouped.multi.tsv.gz to variant_summary.txt.gz
using allele_id as the join key.
While doing this, it switches the clinical_significance column to the value from variant_summary.txt.gz (but doesn't update the clinical_significance_ordered column), so the values differ between the .xml release and variant_summary.txt.gz

I wonder if we should set these as 'conflicting interpretation' in both clinical_significance and clinical_significance_ordered columns?

from clinvar.

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