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脑躯体镶嵌网络的神经精神疾病基因组数据资源。

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

机构信息

Program in Biochemistry, Molecular and Cellular Biology, Johns Hopkins School of Medicine, Baltimore, MD, 21205, USA.

Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN, 55905, USA.

出版信息

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

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.

摘要

体细胞嵌合是指在个体中,源自单个合子的两个或多个细胞群体在特定基因座上具有基因组序列差异的现象。它是多细胞生物的特征,在正常发育和疾病中起着关键作用。为了研究自闭症谱系障碍、双相情感障碍、局灶性皮质发育不良、精神分裂症和妥瑞氏综合征中体细胞嵌合体的性质和程度,一个名为大脑体细胞嵌合体网络(BSMN)的多机构联盟通过国家心理健康研究所(NIMH)成立。除了受影响和神经典型大脑的基因组数据外,BSMN 还通过对参考脑组织的分析,开发并验证了最佳实践体细胞单核苷酸变异调用工作流程。这些资源包括来自 1087 个个体的超过 400 太字节的数据,现在可以通过国家心理健康研究所数据档案(NDA)提供给研究界,并在此处进行了描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/94cd/10662356/e7ec45ceecc3/41597_2023_2645_Fig1_HTML.jpg

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