Population-Based Variation in Cardiomyopathy Genes | Zendy

Jessica R. Golbus | Zendy; Megan J. Puckelwartz | Zendy; John Fahrenbach | Zendy; Lisa DellefaveCastillo | Zendy; Don Wolfgeher | Zendy; Elizabeth M. McNally | Zendy

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Population-Based Variation in Cardiomyopathy Genes

Author(s) -

Jessica R. Golbus,

Megan J. Puckelwartz,

John Fahrenbach,

Lisa DellefaveCastillo,

Don Wolfgeher,

Elizabeth M. McNally

Publication year - 2012

Publication title -

circulation cardiovascular genetics

Language(s) - English

Resource type - Journals

eISSN - 1942-325X

pISSN - 1942-3268

DOI - 10.1161/circgenetics.112.962928

Subject(s) - nonsynonymous substitution , genetics , biology , genetic variation , myh7 , gene , population , cardiomyopathy , 1000 genomes project , genome , single nucleotide polymorphism , genotype , medicine , heart failure , environmental health , gene isoform

Hypertrophic cardiomyopathy and dilated cardiomyopathy arise from mutations in genes encoding sarcomere proteins including MYH7, MYBPC3, and TTN. Genetic diagnosis of cardiomyopathy relies on complete sequencing of the gene coding regions, and most pathogenic variation is rare. The 1000 Genomes Project is an ongoing consortium designed to deliver whole genome sequence information from an ethnically diverse population and, therefore, is a rich source to determine both common and rare genetic variants.

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