Scientific Data (Nov 2023)
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
- McKinzie A. Garrison,
- Yeongjun Jang,
- Taejeong Bae,
- Adriana Cherskov,
- Sarah B. Emery,
- Liana Fasching,
- Attila Jones,
- John B. Moldovan,
- Cindy Molitor,
- Sirisha Pochareddy,
- Mette A. Peters,
- Joo Heon Shin,
- Yifan Wang,
- Xiaoxu Yang,
- Schahram Akbarian,
- Andrew Chess,
- Fred H. Gage,
- Joseph G. Gleeson,
- Jeffrey M. Kidd,
- Michael McConnell,
- Ryan E. Mills,
- John V. Moran,
- Peter J. Park,
- Nenad Sestan,
- Alexander E. Urban,
- Flora M. Vaccarino,
- Christopher A. Walsh,
- Daniel R. Weinberger,
- Sarah J. Wheelan,
- Alexej Abyzov,
- BSMN Consortium
Affiliations
- McKinzie A. Garrison
- Program in Biochemistry, Molecular and Cellular Biology, Johns Hopkins School of Medicine
- Yeongjun Jang
- Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic
- Taejeong Bae
- Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic
- Adriana Cherskov
- Department of Neuroscience, Yale University School of Medicine
- Sarah B. Emery
- Department of Human Genetics, University of Michigan Medical School
- Liana Fasching
- Child Study Center, Yale University
- Attila Jones
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
- John B. Moldovan
- Department of Human Genetics, University of Michigan Medical School
- Cindy Molitor
- Sage Bionetworks
- Sirisha Pochareddy
- Department of Neuroscience, Yale University School of Medicine
- Mette A. Peters
- Sage Bionetworks
- Joo Heon Shin
- Lieber Institute for Brain Development
- Yifan Wang
- Department of Human Genetics, University of Michigan Medical School
- Xiaoxu Yang
- Rady Children’s Institute for Genomic Medicine
- Schahram Akbarian
- Friedman Brain Institute, Icahn School of Medicine at Mount Sinai
- Andrew Chess
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai
- Fred H. Gage
- Laboratory of Genetics LOG-G, Salk Institute for Biological Studies
- Joseph G. Gleeson
- Rady Children’s Institute for Genomic Medicine
- Jeffrey M. Kidd
- Department of Human Genetics, University of Michigan Medical School
- Michael McConnell
- Lieber Institute for Brain Development
- Ryan E. Mills
- Department of Human Genetics, University of Michigan Medical School
- John V. Moran
- Department of Human Genetics, University of Michigan Medical School
- Peter J. Park
- Department of Biomedical Informatics, Harvard Medical School
- Nenad Sestan
- Department of Neuroscience, Yale University School of Medicine
- Alexander E. Urban
- Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine
- Flora M. Vaccarino
- Department of Neuroscience, Yale University School of Medicine
- Christopher A. Walsh
- Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children’s Hospital, Departments of Pediatrics and Neurology, Harvard Medical School
- Daniel R. Weinberger
- Lieber Institute for Brain Development
- Sarah J. Wheelan
- Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine
- Alexej Abyzov
- Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic
- BSMN Consortium
- DOI
- https://doi.org/10.1038/s41597-023-02645-7
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 18
Abstract
Abstract Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote. It is a characteristic of multicellular organisms that plays a crucial role in normal development and disease. To study the nature and extent of somatic mosaicism in autism spectrum disorder, bipolar disorder, focal cortical dysplasia, schizophrenia, and Tourette syndrome, a multi-institutional consortium called the Brain Somatic Mosaicism Network (BSMN) was formed through the National Institute of Mental Health (NIMH). In addition to genomic data of affected and neurotypical brains, the BSMN also developed and validated a best practices somatic single nucleotide variant calling workflow through the analysis of reference brain tissue. These resources, which include >400 terabytes of data from 1087 subjects, are now available to the research community via the NIMH Data Archive (NDA) and are described here.