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Article

Incorporation of clinical and molecular variant properties improves the performance of in silico pathogenicity prediction tools.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2026

Isakov Ofer, Ashwal-Fluss Reut, Marek-Yagel Dina, Sunyaev Shamil, Ben-Shachar Shay

Abstract excerpt

PURPOSE: In silico pathogenicity prediction tools performance can vary depending on molecular and clinical contexts. This study aims to assess the performance of commonly used tools under different conditions. Additionally, the study aims to recalibrate score thresholds to better reflect evidence of pathogenicity. METHODS: ClinVar variants were stratified by allele frequency, conservation, mode of inheritance,...

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PMID: 41904679
DOI: 10.1016/j.gim.2026.102557

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