Functional annotation of rare structural variation in the human brain
Functional annotation of rare structural variation in the human brain
About this item
Full title
Author / Creator
CommonMind Consortium , 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 and Ruderfer, Douglas M.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Functional annotation of rare structural variation in the human brain
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d5da8027a19c4487875263a8dbf5c81b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d5da8027a19c4487875263a8dbf5c81b
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-020-16736-1
