Article

Enhancer redundancy predicts gene pathogenicity and informs complex disease gene discovery

2018-11-01

Abstract excerpt

Non-coding transcriptional regulatory elements are critical for controlling the spatiotemporal expression of genes. Here, we demonstrate that the number of bases in enhancers linked to a gene reflects its disease pathogenicity. Moreover, genes with redundant enhancer domains are depleted of cis -acting genetic variants that disrupt gene expression, and are buffered against the effects of disruptive non-coding mut...

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Literature Corpus work: 2927fb5e-2c38-54de-bcf2-132001e09fad
DOI: 10.1101/459123

Open publication

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