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

TitleGRIPT: a novel case-control analysis method for Mendelian disease gene discovery.
Publication TypeJournal Article
Year of Publication2018
AuthorsWang, J, Zhao, L, Wang, X, Chen, Y, Xu, M, Soens, ZT, Ge, Z, Wang, PRonghan, Wang, F, Chen, R
JournalGenome Biol
Volume19
Issue1
Pagination203
Date Published2018 11 26
ISSN1474-760X
KeywordsCase-Control Studies, Computer Simulation, Genetic Association Studies, Genetic Diseases, Inborn, Humans, Inheritance Patterns, Sensitivity and Specificity
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.

DOI10.1186/s13059-018-1579-x
Alternate JournalGenome Biol.
PubMed ID30477545
PubMed Central IDPMC6258408
Grant ListR01EY022356 / EY / NEI NIH HHS / United States
R01EY018571 / EY / NEI NIH HHS / United States
S10 OD023469 / OD / NIH HHS / United States
R01 EY022356 / EY / NEI NIH HHS / United States
P30 EY002520 / EY / NEI NIH HHS / United States
S10OD023469 / NH / NIH HHS / United States
EY002520 / EY / NEI NIH HHS / United States
R01 EY018571 / EY / NEI NIH HHS / United States