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Article

Evaluating the impact of in silico predictors on clinical variant classification.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2022

Wilcox Emma H, Sarmady Mahdi, Wulf Bryan, Wright Matt W, Rehm Heidi L, Biesecker Leslie G, Abou Tayoun Ahmad N

Abstract excerpt

PURPOSE: According to the American College of Medical Genetics and Genomics/Association of Medical Pathology (ACMG/AMP) guidelines, in silico evidence is applied at the supporting strength level for pathogenic (PP3) and benign (BP4) evidence. Although PP3 is commonly used, less is known about the effect of these criteria on variant classification outcomes. METHODS: A total of 727 missense variants curated by...

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Identifiers

PMID: 34955381
DOI: 10.1016/j.gim.2021.11.018
PMCID: PMC9164215

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