Properties of structural variants and short tandem repeats associated with gene expression and complex traits

David Jakubosky; Matteo D’Antonio; Marc Jan Bonder; Craig Smail; Margaret K. R. Donovan; William W. Young Greenwald; Hiroko Matsui; i2QTL Consortium; Agnieszka D’Antonio-Chronowska; Oliver Stegle; Erin N. Smith; Stephen B. Montgomery; Christopher DeBoever; Kelly A. Frazer

doi:10.1038/s41467-020-16482-4

Nature Communications (Jun 2020)

Properties of structural variants and short tandem repeats associated with gene expression and complex traits

David Jakubosky,
Matteo D’Antonio,
Marc Jan Bonder,
Craig Smail,
Margaret K. R. Donovan,
William W. Young Greenwald,
Hiroko Matsui,
i2QTL Consortium,
Agnieszka D’Antonio-Chronowska,
Oliver Stegle,
Erin N. Smith,
Stephen B. Montgomery,
Christopher DeBoever,
Kelly A. Frazer

Affiliations

David Jakubosky: Biomedical Sciences Graduate Program, University of California San Diego
Matteo D’Antonio: Institute of Genomic Medicine, University of California San Diego
Marc Jan Bonder: European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton
Craig Smail: Department of Biomedical Data Science, Stanford University School of Medicine
Margaret K. R. Donovan: Department of Biomedical Informatics, University of California San Diego
William W. Young Greenwald: Bioinformatics and Systems Biology Graduate Program, University of California San Diego
Hiroko Matsui: Institute of Genomic Medicine, University of California San Diego
i2QTL Consortium
Agnieszka D’Antonio-Chronowska: Institute of Genomic Medicine, University of California San Diego
Oliver Stegle: European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton
Erin N. Smith: Department of Pediatrics, University of California San Diego
Stephen B. Montgomery: Department of Pathology, Stanford University
Christopher DeBoever: Institute of Genomic Medicine, University of California San Diego
Kelly A. Frazer: Institute of Genomic Medicine, University of California San Diego

DOI: https://doi.org/10.1038/s41467-020-16482-4
Journal volume & issue: Vol. 11, no. 1
pp. 1 – 15

Abstract

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Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as length of variation, that affect the association.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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