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

Simple item page
dc.contributor.authorWang, Junen_US
dc.contributor.authorZhao, Lien_US
dc.contributor.authorWang, Xiaen_US
dc.contributor.authorChen, Yongen_US
dc.contributor.authorXu, Mingchuen_US
dc.contributor.authorSoens, Zachry Ten_US
dc.contributor.authorGe, Zhongqien_US
dc.contributor.authorWang, Peter Ren_US
dc.contributor.authorWang, Feien_US
dc.contributor.authorChen, Ruien_US
dc.date.accessioned2018-11-28T16:44:05Zen_US
dc.date.available2018-11-28T16:44:05Zen_US
dc.date.issued2018en_US
dc.date.updated2018-11-28T16:44:04Zen_US
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.en_US
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.en_US
dc.identifier.doihttps://doi.org/10.1186/s13059-018-1579-xen_US
dc.identifier.urihttps://hdl.handle.net/1911/103431en_US
dc.language.isoengen_US
dc.publisherBioMed Centralen_US
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.en_US
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en_US
dc.titleGRIPT: a novel case-control analysis method for Mendelian disease gene discoveryen_US
dc.typeJournal articleen_US
dc.type.dcmiTexten_US
dc.type.publicationpublisher versionen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
13059_2018_Article_1579.pdf
Size:
3.15 MB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
0 B
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
Faculty Publications