Article

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes

2021-03-08

Abstract excerpt

Structural variants (SVs) are an important source of human genome diversity but their functional effects are not well understood. We mapped 61,668 SVs in 613 individuals with deep genome sequencing data from the GTEx project and measured their effects on gene expression. We estimate that common SVs are causal at 2.66% of eQTLs, which is a 10.5-fold enrichment relative to their abundance in the genome and consisten...

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Literature Corpus work: 3e14c4f2-9049-5a20-a374-7fb5037a95f2
DOI: 10.1101/2021.03.06.434233

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