Nature Communications (Jun 2020)
Functional annotation of rare structural variation in the human brain
- 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
Affiliations
- Lide Han
- Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center
- Xuefang Zhao
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.)
- Mary Lauren Benton
- Vanderbilt Genetics Institute, Vanderbilt University Medical Center
- Thaneer Perumal
- Sage Bionetworks
- Ryan L. Collins
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.)
- Gabriel E. Hoffman
- Pamela Sklar Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai
- Jessica S. Johnson
- Pamela Sklar Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai
- Laura Sloofman
- Pamela Sklar Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai
- Harold Z. Wang
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.)
- Matthew R. Stone
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.)
- CommonMind Consortium
- Kristen J. Brennand
- Pamela Sklar Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai
- Harrison Brand
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.)
- Solveig K. Sieberts
- Sage Bionetworks
- Stefano Marenco
- Human Brain Collection Core, Intramural Research Program, NIMH, National Institutes of Health
- Mette A. Peters
- Sage Bionetworks
- Barbara K. Lipska
- Human Brain Collection Core, Intramural Research Program, NIMH, National Institutes of Health
- Panos Roussos
- Pamela Sklar Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai
- John A. Capra
- Vanderbilt Genetics Institute, Vanderbilt University Medical Center
- Michael Talkowski
- Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology (M.I.T.)
- Douglas M. Ruderfer
- Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center
- DOI
- https://doi.org/10.1038/s41467-020-16736-1
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 13
Abstract
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.
