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

• Authors: Leslie G Biesecker; Alicia B Byrne; Steven M Harrison; Tina Pesaran; Alejandro A Schäffer; Brian H Shirts; Sean Tavtigian; Heidi L Rehm
• Collaborators: Broad Institute of MIT and Harvard; National Institutes of Health; University of Utah; University of Washington
• Journal: American journal of human genetics
• Date: 2024 - Jan
• Topics: Gene Characterization Phenotype Characterization Professional Societies Variant Assess. & Interpretation