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The Phenotypic Consequences of Distinct Genetic Variation in an Electronic Medical Record

dc.creatorLevinson, Rebecca Terrall
dc.description.abstractWhile genetic association studies have been able to elucidate the importance of genetics in human disease outcomes, these studies are limited by the necessity of collecting specifically tailored cohorts and that they frequently only test a single outcome. This focus on a single disease at a time ignores the interconnected nature of both biological pathways and disease phenotypes. My dissertation uses phenome-wide association scans (PheWAS), a method of testing one predictor for association with many disease outcomes, to expand our knowledge of multiple genetic variants and types of genetic variation. We used BioVU, a biobank linked to de-identified electronic medical records (EMRs), to explored a variety of applications for PheWAS. Each chapter presents a project where PheWAS was implemented as a starting point due to a specific hypothesis, before follow-up analyses based on the PheWAS outcome and out existing knowledge of the gene, protein, or variant were performed. The projects presented here begin with the most straight-forward scenario, directly genotyped single SNPs, and progress to imputed deletions before exploring ways to use PheWAS in multi-dimensional studies. In conclusion, I used PheWAS to uncover novel genotype-phenotype associations, and further explored these associations using other data types in the EMR. While PheWAS can be a useful tool for discovering unexpected disease consequences of genetic predictors, using it successfully requires sufficient knowledge of the genetic variation tested to evaluate the biological relevance of association signals
dc.titleThe Phenotypic Consequences of Distinct Genetic Variation in an Electronic Medical Record
dc.contributor.committeeMemberJoshua C Denny
dc.contributor.committeeMemberBingshan Li
dc.contributor.committeeMemberDouglas P Mortlock
dc.contributor.committeeMemberDavid C Samuels
dc.type.materialtext Genetics University
dc.contributor.committeeChairMelinda C Aldrich

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