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

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dc.contributor.authorWang, Jun
dc.contributor.authorZhao, Li
dc.contributor.authorWang, Xia
dc.contributor.authorChen, Yong
dc.contributor.authorXu, Mingchu
dc.contributor.authorSoens, Zachry T
dc.contributor.authorGe, Zhongqi
dc.contributor.authorWang, Peter R
dc.contributor.authorWang, Fei
dc.contributor.authorChen, Rui
dc.date.accessioned2018-11-28T16:44:05Z
dc.date.available2018-11-28T16:44:05Z
dc.date.issued2018
dc.date.updated2018-11-28T16:44:04Z
dc.description.abstractAbstract 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.
dc.identifier.citationWang, Jun, Zhao, Li, Wang, Xia, et al.. "GRIPT: a novel case-control analysis method for Mendelian disease gene discovery." (2018) BioMed Central: https://doi.org/10.1186/s13059-018-1579-x.
dc.identifier.doihttps://doi.org/10.1186/s13059-018-1579-x
dc.identifier.urihttps://hdl.handle.net/1911/103431
dc.language.isoeng
dc.publisherBioMed Central
dc.rightsThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleGRIPT: a novel case-control analysis method for Mendelian disease gene discovery
dc.typeJournal article
dc.type.dcmiText
dc.type.publicationpublisher version
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