Article
Functional annotation of rare structural variation in the human brain.
Nature communications - 12 Jun 2020
Han Lide, Zhao Xuefang, Benton Mary Lauren, Perumal Thaneer, Collins Ryan L, Hoffman Gabriel E, Johnson Jessica S, Sloofman Laura, Wang Harold Z, Stone Matthew R, Brennand Kristen J, Brand Harrison, Sieberts Solveig K, Marenco Stefano, Peters Mette A, Lipska Barbara K, Roussos Panos, Capra John A, Talkowski Michael, Ruderfer Douglas M
Abstract excerpt
Structural variants (SVs) contribute to many disorders, yet, functionally annotating them remains a major challenge. Here, we integrate SVs with RNA-sequencing from human post-mortem brains to quantify their dosage and regulatory effects. We show that genic and regulatory SVs exist at significantly lower frequencies than intergenic SVs. Functional impact of copy number variants (CNVs) stems from both the...
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