Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease

Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease

Hirschsprung disease is a birth defect characterized by complete absence of neuronal ganglion cells from a portion of the intestinal tract. To uncover genetic variants contributing to HSCR, we performed whole exome sequencing on seven members of an HSCR family. With the minor allele frequency (MAF)...

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Bibliographic Details
Main Authors: Wei Wu, Li Lu, Weijue Xu, Jiangbin Liu, Jun Sun, Lulu Zheng, Qingfeng Sheng, Zhibao Lv
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Genetics
Subjects:
whole exome sequencing
Hirschsprung disease
RET variant
minor allele frequencies
bioinformatics
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00752/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00752/full

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