Work

P677: Evolving from case counts to case-controls data: Updated PS4 recommendations from ClinGen’s Cardiomyopathy Variant Curation Expert Panel

Year: 2024

Type: article

Abstract: In 2017, the ClinGen Cardiomyopathy Variant Curation Expert Panel published an adaptation of the American College of Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) Standards for Variant Interpretation for the MYH7 gene, one of the most common causes of hypertrophic cardiomyopathy (HCM). HCM is a genetically heterogeneous condition, characterized by age-related incomplete penetrance.

Source: Genetics in Medicine Open

DOI: 10.1016/j.gimo.2024.101581

Authors: Melissa Kelly, Hana Zouk, James Ware, Birgit Funke, Kate Thomson

Institutions: Geisinger Health System, Mass General Brigham, Imperial College London, University of Oxford

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,200