Functional annotation of rare structural variation in the human brain
oleh: Lide Han, Xuefang Zhao, Mary Lauren Benton, Thaneer Perumal, Ryan L. Collins, Gabriel E. Hoffman, Jessica S. Johnson, Laura Sloofman, Harold Z. Wang, Matthew R. Stone, CommonMind Consortium, Kristen J. Brennand, Harrison Brand, Solveig K. Sieberts, Stefano Marenco, Mette A. Peters, Barbara K. Lipska, Panos Roussos, John A. Capra, Michael Talkowski, Douglas M. Ruderfer
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2020-06-01 |
Deskripsi
Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the human brain and their potential to contribute to disease.