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Article

Whole genome sequencing reveals epistasis effects within RET for Hirschsprung disease.

Scientific reports - 28 Nov 2022

Wang Yanbing, Mak Timothy Shin Heng, Dattani Saloni, Garcia-Barcelo Maria-Merce, Fu Alexander Xi, Yip Kevin Y, Ngan Elly Sau-Wai, Tam Paul Kwang-Hang, Tang Clara Sze-Man, Sham Pak Chung

Abstract excerpt

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, suggesting the presence of epistasis, where effect of one genetic variant differs depending on other (modifier) variants. Few...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36443333
DOI: 10.1038/s41598-022-24077-w
PMCID: PMC9705416

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