학술논문
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Document Type
article
Author
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
Source
Scientific Data, Vol 10, Iss 1, Pp 1-18 (2023)
Subject
Language
English
ISSN
2052-4463
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.