Article
Structural variants exhibit widespread allelic heterogeneity and shape variation in complex traits.
Nature communications - 25 Oct 2019
Chakraborty Mahul, Emerson J J, Macdonald Stuart J, Long Anthony D
Abstract excerpt
It 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...
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