Functional annotation of rare structural variation in the human brain
Han L, Zhao X, Benton ML, Perumal T, Collins RL, Hoffman GE, Johnson JS, Sloofman L, Wang HZ, Stone MR, Brennand K, Brand H, Sieberts S, Marenco S, Peters M, Lipska B, Roussos P, Capra J, Talkowski M, Ruderfer D. Functional annotation of rare structural variation in the human brain. Nature Communications 2020, 11: 2990. PMID: 32533064, PMCID: PMC7293301, DOI: 10.1038/s41467-020-16736-1.Peer-Reviewed Original ResearchConceptsCopy number variantsStructural variantsRare structural variationRare copy number variantsCTCF sitesFunctional annotationFunction intoleranceRNA sequencing