Article

Disease heritability enrichment of regulatory elements is concentrated in elements with ancient sequence age and conserved function across species

2018-09-18

Abstract excerpt

Regulatory elements, e.g. enhancers and promoters, have been widely reported to be enriched for disease and complex trait heritability. We investigated how this enrichment varies with the age of the underlying genome sequence, the conservation of regulatory function across species, and the target gene of the regulatory element. We estimated heritability enrichment by applying stratified LD score regression to summ...

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Literature Corpus work: 511f779c-9c6a-563c-9990-21bb2e87bbb7
DOI: 10.1101/420166

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