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Identifying Rare Variants Associated with Complex Traits via Sequencing
dc.contributor.authorLi, Bingshan
dc.contributor.authorLiu, Dajiang J.
dc.contributor.authorLeal, Suzanne M.
dc.date.accessioned2020-01-13T15:07:43Z
dc.date.available2020-01-13T15:07:43Z
dc.date.issued2013-07
dc.identifier.citationLi, Bingshan; Liu, Dajiang J.; Leal, Suzanne M. (2013). "Identifying Rare Variants Associated with Complex Traits via Sequencing." Current Protocols in Human Genetics 78(1): 1.26.1-1.26.22.
dc.identifier.issn1934-8266
dc.identifier.issn1934-8258
dc.identifier.urihttps://hdl.handle.net/2027.42/152695
dc.description.abstractAlthough genome‐wide association studies have been successful in detecting associations with common variants, there is currently an increasing interest in identifying low‐frequency and rare variants associated with complex traits. Next‐generation sequencing technologies make it feasible to survey the full spectrum of genetic variation in coding regions or the entire genome. The association analysis for rare variants is challenging, and traditional methods are ineffective, however, due to the low frequency of rare variants, coupled with allelic heterogeneity. Recently a battery of new statistical methods has been proposed for identifying rare variants associated with complex traits. These methods test for associations by aggregating multiple rare variants across a gene or a genomic region or among a group of variants in the genome. In this unit, we describe key concepts for rare variant association for complex traits, survey some of the recent methods, discuss their statistical power under various scenarios, and provide practical guidance on analyzing next‐generation sequencing data for identifying rare variants associated with complex traits. Curr. Protoc. Hum. Genet. 78:1.26.1‐1.26.22. © 2013 by John Wiley & Sons, Inc.
dc.publisherChapman and Hall
dc.publisherWiley Periodicals, Inc.
dc.subject.otheraggregation analysis
dc.subject.otherexome
dc.subject.othersequencing
dc.subject.otherrare variants
dc.subject.othercomplex traits
dc.subject.otherassociation tests
dc.titleIdentifying Rare Variants Associated with Complex Traits via Sequencing
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelBiological Chemistry
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biology
dc.subject.hlbtoplevelHealth Sciences
dc.subject.hlbtoplevelScience
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/152695/1/cphg0126.pdf
dc.identifier.doi10.1002/0471142905.hg0126s78
dc.identifier.sourceCurrent Protocols in Human Genetics
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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