Ontology highlight
ABSTRACT:
SUBMITTER: Han L
PROVIDER: S-EPMC7293301 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Nature communications 20200612 1
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 proportion of genic and regulatory content altered and loss-of-function intolerance of the g ...[more]