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Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.

Journal of the American College of Cardiology - 27 Dec 2016

Marian Ali J, van Rooij Eva, Roberts Robert

Abstract excerpt

This is the first of 2 review papers on genetics and genomics appearing as part of the series on "omics." Genomics pertains to all components of an organism's genes, whereas genetics involves analysis of a specific gene or genes in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare...

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Cardiomyopathies
Cardiomyopathy and Myosin Studies
Cardiovascular Diseases
Genetic Predisposition to Disease
Genetic Testing

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Genetic Variation

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PMID: 28007145
DOI: 10.1016/j.jacc.2016.09.968
PMCID: PMC5189923

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