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Functional and cross-trait genetic architecture of common diseases and complex traits

Thesis: Ph. D., Massachusetts Institute of Technology, Department of Mathematics, 2017 / Cataloged from PDF version of thesis. / Includes bibliographical references (pages 201-245). / In this thesis, I introduce new methods for learning about diseases and traits from genetic data. First, I introduce a method for partitioning heritability by functional annotation from genome-wide association summary statistics, and I apply it to 17 diseases and traits and many different functional annotations. Next, I show how to apply this method to use gene expression data to identify diseaserelevant tissues and cell types. I next introduce a method for estimating genetic correlation from genome-wide association summary statistics and apply it to estimate genetic correlations between all pairs of 24 diseases and traits. Finally, I consider a model of disease subtypes and I show how to determine a lower bound on the sample size required to distinguish between two disease subtypes as a function of several parameters. / by Hilary Kiyo Finucane. / Ph. D. / Ph.D. Massachusetts Institute of Technology, Department of Mathematics

Identiferoai:union.ndltd.org:MIT/oai:dspace.mit.edu:1721.1/112906
Date January 2017
CreatorsFinucane, Hilary Kiyo.
ContributorsAlkes Price., Massachusetts Institute of Technology. Department of Mathematics., Massachusetts Institute of Technology. Department of Mathematics
PublisherMassachusetts Institute of Technology
Source SetsM.I.T. Theses and Dissertation
LanguageEnglish
Detected LanguageEnglish
TypeThesis
Format245 pages, application/pdf
RightsMIT theses are protected by copyright. They may be viewed, downloaded, or printed from this source but further reproduction or distribution in any format is prohibited without written permission., http://dspace.mit.edu/handle/1721.1/7582

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