Article

A genome-first approach to rare variants in hypertrophic cardiomyopathy genes <i>MYBPC3</i> and <i>MYH7</i> in a medical biobank

2021-05-30

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 ca...

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Literature Corpus work: 17f8f4f8-4674-5e69-8f80-31e94236b10b
DOI: 10.1101/2021.05.26.21257880

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