Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease

Abstract Common variants in RET and NRG1 have been associated with Hirschsprung disease (HSCR), a congenital disorder characterised by incomplete innervation of distal gut, in East Asian (EA) populations. However, the allelic effects so far identified do not fully explain its heritability, suggestin...

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Bibliographic Details
Main Authors: Yanbing Wang, Timothy Shin Heng Mak, Saloni Dattani, Maria-Merce Garcia-Barcelo, Alexander Xi Fu, Kevin Y. Yip, Elly Sau-Wai Ngan, Paul Kwang-Hang Tam, Clara Sze-Man Tang, Pak Chung Sham
Format: Article
Language:English
Published: Nature Portfolio 2022-11-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-022-24077-w

Internet

https://doi.org/10.1038/s41598-022-24077-w

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