Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation | Zendy

Stephen Pan | Zendy; Colleen Caleshu | Zendy; Kyla Dunn | Zendy; Marcia J. Foti | Zendy; Maura K. Moran | Zendy; Oretunlewa Soyinka | Zendy; Euan A. Ashley | Zendy

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Cardiac Structural and Sarcomere Genes Associated With Cardiomyopathy Exhibit Marked Intolerance of Genetic Variation

Author(s) -

Stephen Pan,

Colleen Caleshu,

Kyla Dunn,

Marcia J. Foti,

Maura K. Moran,

Oretunlewa Soyinka,

Euan A. Ashley

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.112.963421

Subject(s) - exome sequencing , genetics , biology , exome , population , mendelian inheritance , genetic variation , single nucleotide polymorphism , genome wide association study , gene , genotype , medicine , mutation , environmental health

The clinical significance of variants in genes associated with inherited cardiomyopathies can be difficult to determine because of uncertainty regarding population genetic variation and a surprising amount of tolerance of the genome even to loss-of-function variants. We hypothesized that genes associated with cardiomyopathy might be particularly resistant to the accumulation of genetic variation.

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