Skill

bio-applied-clinical-genomics

Classify germline variant pathogenicity with ACMG/AMP 5-tier criteria (PVS1/PS1-4/PM1-6/PP1-5/BA1/BS1-4/BP1-7), query ClinVar via NCBI E-utilities, and filter by gnomAD population frequency to draft a clinical variant report. Use when doing ACMG classification, deciding Pathogenic/Likely Pathogenic/

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