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

Jun Wang; Li Zhao; Xia Wang; Yong Chen; Mingchu Xu; Zachry T. Soens; Zhongqi Ge; Peter Ronghan Wang; Fei Wang; Rui Chen

doi:10.1186/s13059-018-1579-x

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

Jun Wang, Li Zhao, Xia Wang, Yong Chen, Mingchu Xu, Zachry T. Soens, Zhongqi Ge, Peter Ronghan Wang, Fei Wang, Rui Chen

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

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 genes and each gene only accounts for a small proportion of the patients. To overcome this gap, we developed a novel method, the Gene Ranking, Identification and Prediction Tool (GRIPT), for performing case-control analysis of NGS data. Analyses of simulated and real datasets show that GRIPT is well-powered for disease gene discovery, especially for diseases with high locus heterogeneity.

Original language	English (US)
Article number	203
Journal	Genome biology
Volume	19
Issue number	1
DOIs	https://doi.org/10.1186/s13059-018-1579-x
State	Published - Nov 26 2018
Externally published	Yes

Keywords

Cohort analysis
Disease gene prioritization
Locus heterogeneity
Mendelian disease
Next-generation sequencing

ASJC Scopus subject areas

Ecology, Evolution, Behavior and Systematics
Genetics
Cell Biology

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10.1186/s13059-018-1579-x

Cite this

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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 genes and each gene only accounts for a small proportion of the patients. To overcome this gap, we developed a novel method, the Gene Ranking, Identification and Prediction Tool (GRIPT), for performing case-control analysis of NGS data. Analyses of simulated and real datasets show that GRIPT is well-powered for disease gene discovery, especially for diseases with high locus heterogeneity.",

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T2 - A novel case-control analysis method for Mendelian disease gene discovery

AU - Wang, Jun

AU - Zhao, Li

AU - Wang, Xia

AU - Chen, Yong

AU - Xu, Mingchu

AU - Soens, Zachry T.

AU - Ge, Zhongqi

AU - Wang, Peter Ronghan

AU - Wang, Fei

AU - Chen, Rui

PY - 2018/11/26

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AB - 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 genes and each gene only accounts for a small proportion of the patients. To overcome this gap, we developed a novel method, the Gene Ranking, Identification and Prediction Tool (GRIPT), for performing case-control analysis of NGS data. Analyses of simulated and real datasets show that GRIPT is well-powered for disease gene discovery, especially for diseases with high locus heterogeneity.

KW - Cohort analysis

KW - Disease gene prioritization

KW - Locus heterogeneity

KW - Mendelian disease

KW - Next-generation sequencing

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

Abstract

Keywords

ASJC Scopus subject areas

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