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

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...

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發表在:Genome Res
Main Authors: 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.
格式: Artigo
語言:Inglês
出版: Cold Spring Harbor Laboratory Press 2020
主題:
Method
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7605255/
https://ncbi.nlm.nih.gov/pubmed/32948616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.264473.120
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