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NCJ Number: 249961 Find in a Library
Title: Abundant Contribution of Short Tandem Repeats to Gene Expression Variation in Humans
Journal: Nature Genetics  Volume:48  Issue:1  Dated:January 2016  Pages:22-29
Author(s): M. Gymrek; T. Willems; A. Guilmatre; H. Y. Zeng; B. Markus; S. Georgiev; M. J. Daly; A. L. Price; J. K. Pritchard; A. J. Sharp; Y. Erlich
Date Published: January 2016
Page Count: 8
Sponsoring Agency: National Institute of Justice (NIJ)
Washington, DC 20531
Grant Number: 2014-DN-BX-K089
Document: PDF
Type: Report (Grant Sponsored); Report (Study/Research); Research (Applied/Empirical)
Format: Article; Document (Online)
Language: English
Country: United States of America
Annotation: Since the contribution of repetitive elements to quantitative human traits is largely unknown, this article reports on a genome-wide survey of the contribution of short tandem repeats (STRs), which constitute one of the most polymorphic and abundant repeat classes, to gene expression in humans.
Abstract: The survey identified 2,060 significant expression STRs (eSTRs). These eSTRs were replicable in orthogonal populations and expression assays. Variance partitioning was used to disentangle the contribution of eSTRs from that of linked SNPs and indels and found that eSTRs contribute 10–15 percent of the cis heritability mediated by all common variants. Further functional genomic analyses showed that eSTRs are enriched in conserved regions, colocalize with regulatory elements, and may modulate certain histone modifications. By analyzing known genome-wide association study (GWAS) signals and searching for new associations in 1,685 whole genomes from deeply phenotyped individuals, the study found that eSTRs are enriched in various clinically relevant conditions. These results highlight the contribution of STRs to the genetic architecture of quantitative human traits. 17 figures and 78 references (Publisher abstract modified)
Main Term(s): Forensic sciences
Index Term(s): DNA Typing; Investigative techniques; NIJ grant-related documents; NIJ Resources; Suspect identification; Victim identification
To cite this abstract, use the following link:
http://www.ncjrs.gov/App/publications/abstract.aspx?ID=272121

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