Whole-genome analysis of noncoding genetic variations identifies multigranular regulatory element perturbations associated with Hirschsprung disease
Xi Fu, Kathy Nga-Chu Lui, Clara Sze-Man Tang, Ray Kit Ng, Frank Pui-Ling Lai, Sin-Ting Lau, Zhixin Li, María-Mercé García-Barceló, Pak Chung Sham, Paul Kwong Hang Tam, Esw Ngan, Kevin Yuk-Lap Yip
The paper identifies noncoding genetic variants associated with Hirschsprung disease using a framework that captures multi-granular regulatory element perturbations.
Genome Research · Nov 1, 2020Peer-reviewedGenetics