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Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies.

ABSTRACT: Complex traits such as susceptibility to diseases are determined in part by variants at multiple genetic loci. Genome-wide association studies can identify these loci, but most phenotype-associated variants lie distal to protein-coding regions and are likely involved in regulating gene expression. Understanding how these genetic variants affect complex traits depends on the ability to predict and test the function of the genomic elements harboring them. Community efforts such as the ENCODE Project provide a wealth of data about epigenetic features associated with gene regulation. These data enable the prediction of testable functions for many phenotype-associated variants.

SUBMITTER: Hardison RC

PROVIDER: S-EPMC3438926 | biostudies-other | 2012 Sep

REPOSITORIES: biostudies-other

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Genome-wide epigenetic data facilitate understanding of disease susceptibility association studies.

Hardison Ross C RC

The Journal of biological chemistry 20120905 37

Complex traits such as susceptibility to diseases are determined in part by variants at multiple genetic loci. Genome-wide association studies can identify these loci, but most phenotype-associated variants lie distal to protein-coding regions and are likely involved in regulating gene expression. Understanding how these genetic variants affect complex traits depends on the ability to predict and test the function of the genomic elements harboring them. Community efforts such as the ENCODE Proje ...[more]

PMID: 22952232

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