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

doi:10.1038/s41597-023-02645-7

Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases

Sci Data. 2023 Nov 20;10(1):813. doi: 10.1038/s41597-023-02645-7.

Authors

McKinzie A Garrison¹, Yeongjun Jang², Taejeong Bae², Adriana Cherskov³, Sarah B Emery⁴, Liana Fasching⁵, Attila Jones^{6

7}, John B Moldovan⁴, Cindy Molitor⁸, Sirisha Pochareddy³, Mette A Peters⁸, Joo Heon Shin^{9

10}, Yifan Wang⁴, Xiaoxu Yang^{11

12}, Schahram Akbarian^{13

14}, Andrew Chess^{6

7

13

14}, Fred H Gage¹⁵, Joseph G Gleeson^{11

12}, Jeffrey M Kidd^{4

16}, Michael McConnell⁹, Ryan E Mills^{4

16}, John V Moran^{4

17}, Peter J Park¹⁸, Nenad Sestan³, Alexander E Urban^{19

20}, Flora M Vaccarino^{3

5}, Christopher A Walsh²¹, Daniel R Weinberger^{9

10

22

23

24}, Sarah J Wheelan^{25

26}, Alexej Abyzov²⁷; BSMN Consortium

Collaborators

BSMN Consortium:
Aitor Serres Amero, Danny Antaki, Dan Averbuj, Laurel Ball, Sara Bizzotto, Craig Bohrson, Rebeca Borges-Monroy, Martin Breuss, Sean Cho, Chong Chu, Changuk Chung, Isidro Cortes-Ciriano, Michael Coulter, Kenneth Daily, Caroline Dias, Alissa D'Gama, Yanmei Dou, Jennifer Erwin, Diane A Flasch, Trenton J Frisbie, Alon Galor, Javier Ganz, Doga Gulhan, Robert Hill, August Yue Huang, Andrew Jaffe, Alexandre Jourdon, David Juan, Sattar Khoshkhoo, Sonia Kim, Huira C Kopera, Kenneth Y Kwan, Minseok Kwon, Ben Langmead, Eunjung Alice Lee, Sara Linker, Irene Lobon, Michael A Lodato, Lovelace J Luquette, Gary Mathern, Tomas Marques-Bonet, Eduardo A Maury, Michael Miller, Manuel Solis Moruno, Rujuta Narurkar, Apua Paquola, Reenal Pattni, Raquel Garcia Perez, Inna Povolotskaya, Patrick Reed, Rachel Rodin, Chaggai Rosenbluh, Soraya Scuderi, Maxwell Sherman, Richard Straub, Eduardo Soriano, Chen Sun, Jeremy Thorpe, Vinay Viswanadham, Meiyan Wang, Xuefang Zhao, Bo Zhou, Weichen Zhou, Zinan Zhou, Xiaowei Zhu

Affiliations

¹ Program in Biochemistry, Molecular and Cellular Biology, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA.
² Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.
³ Department of Neuroscience, Yale University School of Medicine, New Haven, CT, 06520, USA.
⁴ Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.
⁵ Child Study Center, Yale University, New Haven, CT, 06520, USA.
⁶ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
⁷ Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
⁸ Sage Bionetworks, 2901 Third Ave., Suite 330, Seattle, WA, 98121, USA.
⁹ Lieber Institute for Brain Development, Baltimore, MD, 21205, USA.
¹⁰ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
¹¹ Rady Children's Institute for Genomic Medicine, 7910 Frost St., Suite #300, San Diego, CA, 92123, USA.
¹² Department of Neurosciences, University of California San Diego, La Jolla, California, USA.
¹³ Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹⁴ Icahn Institute for Data Science and Genomic Technologies, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
¹⁵ Laboratory of Genetics LOG-G, Salk Institute for Biological Studies, La Jolla, CA, 92037, USA.
¹⁶ Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan, 48109, USA.
¹⁷ Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, 48109, USA.
¹⁸ Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
¹⁹ Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California, 94305, USA.
²⁰ Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA.
²¹ Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA, USA.
²² Department of Psychiatry and Behavioral Sciences, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA.
²³ McKusick Nathans Institute of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
²⁴ Department of Neuroscience, Johns Hopkins School of Medicine, Baltimore, MD, USA.
²⁵ Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
²⁶ National Human Genome Research Institute, National Institutes of Health, 6700B Rockledge Dr, Bethesda, MD, 20892, USA.
²⁷ Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA. Abyzov.Alexej@mayo.edu.

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.

Publication types

Dataset

MeSH terms

Autism Spectrum Disorder / genetics
Brain
Genome, Human
Genomics
Humans
Mental Disorders* / genetics
Mosaicism

Abstract

Publication types

MeSH terms

Grants and funding