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dc.contributor.advisorHirschhorn, Joel Naom
dc.contributor.authorWang, Sophie
dc.date.accessioned2014-06-06T15:01:41Z
dc.date.issued2014-06-06
dc.date.submitted2014
dc.identifier.citationWang, Sophie. 2014. Optimizing rare variant association studies in theory and practice. Doctoral dissertation, Harvard University.en_US
dc.identifier.otherhttp://dissertations.umi.com/gsas.harvard:11430en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:12271787
dc.description.abstractGenome-wide association studies (GWAS) have greatly improved our understanding of the genetic basis of complex traits. However, there are two major limitations with GWAS. First, most common variants identified by GWAS individually or in combination explain only a small proportion of heritability. This raises the possibility that additional forms of genetic variation, such as rare variants, could contribute to the missing heritability. The second limitation is that GWAS typically cannot identify which genes are being affected by the associated variants. Examination of rare variants, especially those in coding regions of the genome, can help address these issues. Moreover, several studies have recently identified low-frequency variants at both known and novel loci associated with complex traits, suggesting that functionally significant rare variants exist in the human population.en_US
dc.language.isoen_USen_US
dash.licenseLAA
dc.subjectGeneticsen_US
dc.subjectcomplex traiten_US
dc.subjectfounder populationen_US
dc.subjectNPR2en_US
dc.subjectpooled sequencingen_US
dc.subjectrare variant association studyen_US
dc.subjectshort statureen_US
dc.titleOptimizing rare variant association studies in theory and practiceen_US
dc.typeThesis or Dissertationen_US
dash.depositing.authorWang, Sophie
dc.date.available2014-06-06T15:01:41Z
thesis.degree.date2014en_US
thesis.degree.disciplineBiology: Medical Sciences, Division ofen_US
thesis.degree.grantorHarvard Universityen_US
thesis.degree.leveldoctoralen_US
thesis.degree.namePh.D.en_US
dc.contributor.committeeMemberNewton-Cheh, Chrisen_US
dc.contributor.committeeMemberFlorez, Joseen_US
dc.contributor.committeeMemberMacArthur, Danielen_US
dc.contributor.committeeMemberRamachandran, Sohinien_US
dash.contributor.affiliatedWang, Sophie


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