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Article

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.

American journal of human genetics - 4 Jan 2024

Biesecker Leslie G, Byrne Alicia B, Harrison Steven M, Pesaran Tina, Schäffer Alejandro A, Shirts Brian H, Tavtigian Sean V, Rehm Heidi L

Abstract excerpt

The 2015 American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant classification publication established a standard employed internationally to guide laboratories in variant assessment. Those recommendations included both pathogenic (PP1) and benign (BS4) criteria for evaluating the inheritance patterns of variants, but details of how to apply those criteria at...

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PMID: 38103548
DOI: 10.1016/j.ajhg.2023.11.009
PMCID: PMC10806742

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