GRIPT: a novel case-control analysis method for Mendelian disease gene discovery

GRIPT: a novel case-control analysis method for Mendelian disease gene discovery

Abstract Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about half of all Mendelian diseases remain elusive. One main challenge is the high genetic heterogeneity of Mendelian diseases in which similar phenotypes are caused by different...

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Bibliographic Details
Main Authors: Jun Wang, Li Zhao, Xia Wang, Yong Chen, Mingchu Xu, Zachry T. Soens, Zhongqi Ge, Peter Ronghan Wang, Fei Wang, Rui Chen
Format: Article
Language:English
Published: BMC 2018-11-01
Series:Genome Biology
Subjects:
Mendelian disease
Disease gene prioritization
Cohort analysis
Locus heterogeneity
Next-generation sequencing
Online Access:http://link.springer.com/article/10.1186/s13059-018-1579-x

Internet

http://link.springer.com/article/10.1186/s13059-018-1579-x

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