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PMID: 30478440 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Flexible statistical methods for estimating and testing effects in genomic studies with multiple conditions.

Nature genetics ·Vol. 51 ·No. 1 ·2019-00-00 ·Pages 187-195

Urbut SM, Wang G, Carbonetto P, Stephens M

Abstract

We introduce new statistical methods for analyzing genomic data sets that measure many effects in many conditions (for example, gene expression changes under many treatments). These new methods improve on existing methods by allowing for arbitrary correlations in effect sizes among conditions. This flexible approach increases power, improves effect estimates and allows for more quantitative assessments of effect-size heterogeneity compared to simple shared or condition-specific assessments. We illustrate these features through an analysis of locally acting variants associated with gene expression (cis expression quantitative trait loci (eQTLs)) in 44 human tissues. Our analysis identifies more eQTLs than existing approaches, consistent with improved power. We show that although genetic effects on expression are extensively shared among tissues, effect sizes can still vary greatly among tissues. Some shared eQTLs show stronger effects in subsets of biologically related tissues (for example, brain-related tissues), or in only one tissue (for example, testis). Our methods are widely applicable, computationally tractable for many conditions and available online.

MeSH Terms
Gene Expression/genetics Gene Expression Profiling/statistics & numerical data Gene Expression Regulation/genetics Genomics/statistics & numerical data Humans Polymorphism, Single Nucleotide/genetics Quantitative Trait Loci/genetics
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Urbut Sarah M ORCID
Pritzker School of Medicine, Growth & Development Training Program, University of Chicago, Chicago, IL, USA. | Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Wang Gao ORCID
Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Carbonetto Peter ORCID
Department of Human Genetics, University of Chicago, Chicago, IL, USA. | Research Computing Center, University of Chicago, Chicago, IL, USA.
Stephens Matthew ORCID
Department of Human Genetics, University of Chicago, Chicago, IL, USA. [email protected]. | Department of Statistics, University of Chicago, Chicago, IL, USA. [email protected].
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Article Info
Journal
Nature genetics
Abbr.
Nat Genet
ISSN
1546-1718
Published
2019-00-00
Epub
2018-00-26
Pages
187-195
Language
English
Region
United States
NLM ID
9216904
PMCID
PMC6309609
Subset
IM
Grants
NICHD NIH HHS · T32 HD007009 · United States
NIDA NIH HHS · R01 DA006227 · United States
NIMH NIH HHS · R01 MH101782 · United States
NIMH NIH HHS · R01 MH101810 · United States
NIMH NIH HHS · R01 MH101819 · United States
NIDA NIH HHS · R01 DA033684 · United States
NIMH NIH HHS · R01 MH090936 · United States
NHGRI NIH HHS · R01 HG002585 · United States
NIMH NIH HHS · R01 MH090951 · United States
NIMH NIH HHS · R01 MH101820 · United States
NIMH NIH HHS · R01 MH101825 · United States
NIMH NIH HHS · R01 MH090948 · United States
NIMH NIH HHS · R01 MH090941 · United States
NIMH NIH HHS · R01 MH101822 · United States
CCR NIH HHS · HHSN261200800001C · United States
NIMH NIH HHS · R01 MH090937 · United States
NHLBI NIH HHS · HHSN268201000029C · United States
NCI NIH HHS · HHSN261200800001E · United States
NIMH NIH HHS · R01 MH101814 · United States
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