Show simple item record

dc.contributor.authorChakraborty, Mahul
dc.contributor.authorEmerson, J.J.
dc.contributor.authorMacdonald, Stuart J.
dc.contributor.authorLong, Anthony D.
dc.identifier.citationChakraborty, M., Emerson, J. J., Macdonald, S. J., & Long, A. D. (2019). Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits. Nature communications, 10(1), 4872.
dc.descriptionThis work is licensed under a Creative Commons Attribution 4.0 International License.en_US
dc.description.abstractIt has been hypothesized that individually-rare hidden structural variants (SVs) could account for a significant fraction of variation in complex traits. Here we identified more than 20,000 euchromatic SVs from 14 Drosophila melanogaster genome assemblies, of which ~40% are invisible to high specificity short-read genotyping approaches. SVs are common, with 31.5% of diploid individuals harboring a SV in genes larger than 5kb, and 24% harboring multiple SVs in genes larger than 10kb. SV minor allele frequencies are rarer than amino acid polymorphisms, suggesting that SVs are more deleterious. We show that a number of functionally important genes harbor previously hidden structural variants likely to affect complex phenotypes. Furthermore, SVs are overrepresented in candidate genes associated with quantitative trait loci mapped using the Drosophila Synthetic Population Resource. We conclude that SVs are ubiquitous, frequently constitute a heterogeneous allelic series, and can act as rare alleles of large effect.en_US
dc.publisherNature Researchen_US
dc.rightsCopyright © 2019, Springer Natureen_US
dc.subjectEvolutionary biologyen_US
dc.subjectHeritable quantitative traiten_US
dc.titleStructural variants exhibit widespread allelic heterogeneity and shape variation in complex traitsen_US
kusw.kuauthorMacdonald, Stuart J.
kusw.kudepartmentMolecular Biosciencesen_US
kusw.oaversionScholarly/refereed, publisher versionen_US
kusw.oapolicyThis item meets KU Open Access policy criteria.en_US

Files in this item


This item appears in the following Collection(s)

Show simple item record

Copyright © 2019, Springer Nature
Except where otherwise noted, this item's license is described as: Copyright © 2019, Springer Nature