Article

Whole genome sequencing delineates regulatory and novel genic variants in childhood cardiomyopathy

2020-10-14

Abstract excerpt

<h4>ABSTRACT</h4> Cardiomyopathy (CMP) is a heritable genetic disorder. Protein-coding variants account for 20-30% of cases. The contribution of variants in non-coding DNA elements that regulate gene expression has not been explored. We performed whole-genome sequencing (WGS) of 228 unrelated CMP families. Besides pathogenic protein-coding variants in known CMP genes, 5% cases harbored rare loss-of-function varian...

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Literature Corpus work: e9bb67b4-da9b-5927-a71d-919796ac5c32
DOI: 10.1101/2020.10.12.20211474

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