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Article

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.

Human molecular genetics - 3 Mar 2022

Park Joseph, Packard Elizabeth A, Levin Michael G, Judy Renae L, Damrauer Scott M, Day Sharlene M, Ritchie Marylyn D, Rader Daniel J

Abstract excerpt

'Genome-first' approaches to analyzing rare variants can reveal new insights into human biology and disease. Because pathogenic variants are often rare, new discovery requires aggregating rare coding variants into 'gene burdens' for sufficient power. However, a major challenge is deciding which variants to include in gene burden tests. Pathogenic variants in MYBPC3 and MYH7 are well-known causes of hypertrophic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 34542152
DOI: 10.1093/hmg/ddab249
PMCID: PMC8895730

Genes

MYBPC3
MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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A genome-first approach to rare variants in hypertrophic cardiomyopathy genes MYBPC3 and MYH7 in a medical biobank.PMID 34542152Read ↗

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