Article

Whole-genome analysis of noncoding genetic variations identifies multigranular regulatory element perturbations associated with Hirschsprung disease

2020-04-09

Abstract excerpt

It is widely recognized that the missing heritability of many human diseases is partially due to noncoding genetic variants, but there are multiple challenges that hinder the identification of functional disease-associated noncoding variants. The number of noncoding variants can be many times of coding variants; many of them are not functional but in linkage disequilibrium with the functional ones; different varia...

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Literature Corpus work: 3a44bfb5-74d0-5216-939b-edfa2b210cbf
DOI: 10.1101/2020.04.08.032045

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