Genome biologyGenomicsPeer-reviewed journal article
GRIPT: A novel case-control analysis method for Mendelian disease gene discovery
Jun WangiD, Li ZhaoiD, Xia WangiD, Yong Chen, Mingchu Xu, Zachry T. SoensiD, Zhongqi GeiD, Peter Ronghan WangiD, Fei WangiD, Rui CheniD
Abstract
Despite rapid progress of next-generation sequencing (NGS) technologies, the disease-causing genes underpinning about 50% of 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.
- assay: whole-genome sequencing
- research focus: variant calling
- research focus: GWAS / association mapping
- approach: statistical model
- Citations
- 6
- FWCI
- 0.46
- Field percentile
- top 36%
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