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.

Details

Title
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Author
Garrison, McKinzie A. 1   VIAFID ORCID Logo  ; Jang, Yeongjun 2   VIAFID ORCID Logo  ; Bae, Taejeong 2   VIAFID ORCID Logo  ; Cherskov, Adriana 3 ; Emery, Sarah B. 4 ; Fasching, Liana 5 ; Jones, Attila 6   VIAFID ORCID Logo  ; Moldovan, John B. 4 ; Molitor, Cindy 7 ; Pochareddy, Sirisha 3 ; Peters, Mette A. 7 ; Shin, Joo Heon 8   VIAFID ORCID Logo  ; Wang, Yifan 4 ; Yang, Xiaoxu 9   VIAFID ORCID Logo  ; Akbarian, Schahram 10   VIAFID ORCID Logo  ; Chess, Andrew 11 ; Gage, Fred H. 12   VIAFID ORCID Logo  ; Gleeson, Joseph G. 9 ; Kidd, Jeffrey M. 13   VIAFID ORCID Logo  ; McConnell, Michael 14   VIAFID ORCID Logo  ; Mills, Ryan E. 13 ; Moran, John V. 15   VIAFID ORCID Logo  ; Park, Peter J. 16   VIAFID ORCID Logo  ; Sestan, Nenad 3   VIAFID ORCID Logo  ; Urban, Alexander E. 17   VIAFID ORCID Logo  ; Vaccarino, Flora M. 18   VIAFID ORCID Logo  ; Walsh, Christopher A. 19   VIAFID ORCID Logo  ; Weinberger, Daniel R. 20   VIAFID ORCID Logo  ; Wheelan, Sarah J. 21 ; Abyzov, Alexej 2   VIAFID ORCID Logo  ; Amero, Aitor Serres 22 ; Antaki, Danny 23 ; Averbuj, Dan 9 ; Ball, Laurel 9 ; Bizzotto, Sara 19 ; Bohrson, Craig 16 ; Borges-Monroy, Rebeca 19 ; Breuss, Martin 23 ; Cho, Sean 24 ; Chu, Chong 16 ; Chung, Changuk 25 ; Cortes-Ciriano, Isidro 16 ; Coulter, Michael 19 ; Daily, Kenneth 7 ; Dias, Caroline 19 ; D’Gama, Alissa 19 ; Dou, Yanmei 16 ; Erwin, Jennifer 14 ; Flasch, Diane A. 4 ; Frisbie, Trenton J. 4 ; Galor, Alon 16 ; Ganz, Javier 19 ; Gulhan, Doga 16 ; Hill, Robert 19 ; Huang, August Yue 19 ; Jaffe, Andrew 14 ; Jourdon, Alexandre 5 ; Juan, David 22 ; Khoshkhoo, Sattar 19 ; Kim, Sonia 19 ; Kopera, Huira C. 4 ; Kwan, Kenneth Y. 4 ; Kwon, Minseok 16 ; Langmead, Ben 26 ; Lee, Eunjung Alice 19 ; Linker, Sara 12 ; Lobon, Irene 22 ; Lodato, Michael A. 27 ; Luquette, Lovelace J. 16 ; Mathern, Gary 28 ; Marques-Bonet, Tomas 22 ; Maury, Eduardo A. 19 ; Miller, Michael 19 ; Moruno, Manuel Solis 22 ; Narurkar, Rujuta 14 ; Paquola, Apua 14 ; Pattni, Reenal 17 ; Perez, Raquel Garcia 22 ; Povolotskaya, Inna 22 ; Reed, Patrick 12 ; Rodin, Rachel 19 ; Rosenbluh, Chaggai 29 ; Scuderi, Soraya 5 ; Sherman, Maxwell 16 ; Straub, Richard 14 ; Soriano, Eduardo 30 ; Sun, Chen 31 ; Thorpe, Jeremy 24 ; Viswanadham, Vinay 16 ; Wang, Meiyan 12 ; Zhao, Xuefang 31 ; Zhou, Bo 17 ; Zhou, Weichen 31 ; Zhou, Zinan 19 ; Zhu, Xiaowei 17 

1  Johns Hopkins School of Medicine, Program in Biochemistry, Molecular and Cellular Biology, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311) 
2  Mayo Clinic, Department of Quantitative Health Sciences, Center for Individualized Medicine, Rochester, USA (GRID:grid.66875.3a) (ISNI:0000 0004 0459 167X) 
3  Yale University School of Medicine, Department of Neuroscience, New Haven, USA (GRID:grid.47100.32) (ISNI:0000 0004 1936 8710) 
4  University of Michigan Medical School, Department of Human Genetics, Ann Arbor, USA (GRID:grid.214458.e) (ISNI:0000000086837370) 
5  Yale University, Child Study Center, New Haven, USA (GRID:grid.47100.32) (ISNI:0000 0004 1936 8710) 
6  Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351); Icahn School of Medicine at Mount Sinai, Department of Cell, Developmental and Regenerative Biology, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351) 
7  Sage Bionetworks, Seattle, USA (GRID:grid.430406.5) (ISNI:0000 0004 6023 5303) 
8  Lieber Institute for Brain Development, Baltimore, USA (GRID:grid.429552.d) (ISNI:0000 0004 5913 1291); Johns Hopkins School of Medicine, Department of Neurology, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311) 
9  Rady Children’s Institute for Genomic Medicine, San Diego, USA (GRID:grid.286440.c) (ISNI:0000 0004 0383 2910); University of California San Diego, Department of Neurosciences, La Jolla, USA (GRID:grid.266100.3) (ISNI:0000 0001 2107 4242) 
10  Icahn School of Medicine at Mount Sinai, Friedman Brain Institute, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351); Icahn School of Medicine at Mount Sinai, Icahn Institute for Data Science and Genomic Technologies, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351) 
11  Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351); Icahn School of Medicine at Mount Sinai, Department of Cell, Developmental and Regenerative Biology, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351); Icahn School of Medicine at Mount Sinai, Friedman Brain Institute, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351); Icahn School of Medicine at Mount Sinai, Icahn Institute for Data Science and Genomic Technologies, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351) 
12  Salk Institute for Biological Studies, Laboratory of Genetics LOG-G, La Jolla, USA (GRID:grid.250671.7) (ISNI:0000 0001 0662 7144) 
13  University of Michigan Medical School, Department of Human Genetics, Ann Arbor, USA (GRID:grid.214458.e) (ISNI:0000000086837370); University of Michigan Medical School, Department of Computational Medicine and Bioinformatics, Ann Arbor, USA (GRID:grid.214458.e) (ISNI:0000000086837370) 
14  Lieber Institute for Brain Development, Baltimore, USA (GRID:grid.429552.d) (ISNI:0000 0004 5913 1291) 
15  University of Michigan Medical School, Department of Human Genetics, Ann Arbor, USA (GRID:grid.214458.e) (ISNI:0000000086837370); University of Michigan Medical School, Department of Internal Medicine, Ann Arbor, USA (GRID:grid.214458.e) (ISNI:0000000086837370) 
16  Harvard Medical School, Department of Biomedical Informatics, Boston, USA (GRID:grid.38142.3c) (ISNI:000000041936754X) 
17  Stanford University School of Medicine, Department of Psychiatry and Behavioral Sciences, Stanford, USA (GRID:grid.168010.e) (ISNI:0000000419368956); Stanford University School of Medicine, Department of Genetics, Stanford, USA (GRID:grid.168010.e) (ISNI:0000000419368956) 
18  Yale University School of Medicine, Department of Neuroscience, New Haven, USA (GRID:grid.47100.32) (ISNI:0000 0004 1936 8710); Yale University, Child Study Center, New Haven, USA (GRID:grid.47100.32) (ISNI:0000 0004 1936 8710) 
19  Harvard Medical School, Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children’s Hospital, Departments of Pediatrics and Neurology, Boston, USA (GRID:grid.38142.3c) (ISNI:000000041936754X) 
20  Lieber Institute for Brain Development, Baltimore, USA (GRID:grid.429552.d) (ISNI:0000 0004 5913 1291); Johns Hopkins School of Medicine, Department of Neurology, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311); Johns Hopkins School of Medicine, Department of Psychiatry and Behavioral Sciences, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311); Johns Hopkins School of Medicine, McKusick Nathans Institute of Genetic Medicine, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311); Johns Hopkins School of Medicine, Department of Neuroscience, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311) 
21  Johns Hopkins University School of Medicine, Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311); National Institutes of Health, National Human Genome Research Institute, Bethesda, USA (GRID:grid.94365.3d) (ISNI:0000 0001 2297 5165) 
22  Institut de Biologia Evolutiva (CSIC-Universitat Pompeu Fabra), PRBB, Barcelona, Spain (GRID:grid.507636.1) (ISNI:0000 0004 0424 5398) 
23  University of California San Diego, Department of Neurosciences, La Jolla, USA (GRID:grid.266100.3) (ISNI:0000 0001 2107 4242) 
24  Kennedy Krieger Institute, Department of Neurology, Baltimore, USA (GRID:grid.240023.7) (ISNI:0000 0004 0427 667X) 
25  Rady Children’s Institute for Genomic Medicine, San Diego, USA (GRID:grid.286440.c) (ISNI:0000 0004 0383 2910) 
26  Johns Hopkins University, Department of Computer Science, Baltimore, USA (GRID:grid.21107.35) (ISNI:0000 0001 2171 9311) 
27  University of Massachusetts Chan Medical School, Department of Molecular, Cell, and Cancer Biology, Worcester, USA (GRID:grid.168645.8) (ISNI:0000 0001 0742 0364) 
28  University of California, Los Angeles, USA (GRID:grid.19006.3e) (ISNI:0000 0000 9632 6718) 
29  Icahn School of Medicine at Mount Sinai, Department of Cell, Developmental and Regenerative Biology, New York, USA (GRID:grid.59734.3c) (ISNI:0000 0001 0670 2351) 
30  University of Barcelona, Department of Cell Biology, Physiology and Immunology, and Institute of Neurosciences, Barcelona, Spain (GRID:grid.5841.8) (ISNI:0000 0004 1937 0247) 
31  University of Michigan Medical School, Department of Computational Medicine and Bioinformatics, Ann Arbor, USA (GRID:grid.214458.e) (ISNI:0000000086837370) 
Pages
813
Publication year
2023
Publication date
2023
Publisher
Nature Publishing Group
e-ISSN
20524463
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41597-023-02645-7
ProQuest document ID
2891937185
Copyright
© The Author(s) 2023. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.