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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Detalhes bibliográficos
Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2020
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Method
Acesso em linha: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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