Scientific data · 2023
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.
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Garrison McKinzie A, Jang Yeongjun, Bae Taejeong, Cherskov Adriana, Emery Sarah B, Fasching Liana, Jones Attila, Moldovan John B, Molitor Cindy, Pochareddy Sirisha, Peters Mette A, Shin Joo Heon, Wang Yifan, Yang Xiaoxu, Akbarian Schahram, Chess Andrew, Gage Fred H, Gleeson Joseph G, Kidd Jeffrey M, McConnell Michael, Mills Ryan E, Moran John V, Park Peter J, Sestan Nenad, Urban Alexander E, Vaccarino Flora M, Walsh Christopher A, Weinberger Daniel R, Wheelan Sarah J, Abyzov Alexej, BSMN Consortium
Аннотация
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.