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Article

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

Genome research - 1 Nov 2020

Fu Alexander Xi, Lui Kathy Nga-Chu, Tang Clara Sze-Man, Ng Ray Kit, Lai Frank Pui-Ling, Lau Sin-Ting, Li Zhixin, Garcia-Barcelo Maria-Mercè, Sham Pak-Chung, Tam Paul Kwong-Hang, Ngan Elly Sau-Wai, Yip Kevin Y

Abstract excerpt

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

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32948616
DOI: 10.1101/gr.264473.120
PMCID: PMC7605255

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