Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain
Open accessAbstract
(Cell Reports 8, 1280–1289; September 11, 2014) In the original published version, an Accession Numbers section was missing. This section has since been added to the article. The authors regret the error. Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human BrainCai et al.Cell ReportsAugust 21, 2014In BriefCai et al. performed copy-number analysis on over 200 single cells, including glia and >160 neurons and glia isolated from primary human brain tissue. Although most neurons in normal brains are euploid, large subchromosomal CNVs were commonly identified, suggesting genetic heterogeneity within normal human brains. Clonal somatic CNVs were identified from both normal and diseased human brains, suggesting that CNVs occurring during neurogenesis can have a wide range of functional impacts on human cognitive function. Full-Text PDF Open Access
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Recent advances in next generation sequencing and single cell genomics have enabled detection of somatic genomic variations in specific cells and healthy and diseased human brains.
“Recent advances in next generation sequencing and single cell genomics have enabled the detection of somatic genomic variations in specific cells and healthy and diseased human brains (Cai et al., 2015; Hu et al., 2014; Marin-Valencia et al., 2014).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Cai et al., 2015
Certain neurodevelopmental diseases are caused by de novo somatic mutations in neural progenitors that expand clonally to produce aberrations in specific neural cell types and brain regions.
“For example, these studies have demonstrated that certain neurodevelopmental diseases are caused by de novo somatic mutations in neural progenitors that then expand clonally to produce aberrations in specific neural cell types and brain regions (Cai et al., 2015; Hu et al., 2014; Marin-Valencia et al., 2014).”
From The Cellular and Molecular Landscapes of the Developing Human Central Nervous System (2016) · cites this paper as Cai et al., 2015
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- Authors
- Cai, X., Evrony, G. D., Lehmann, H. S., Elhosary, P. C., Mehta, B. K., Poduri, A., & Walsh, C. A.
- Corresponding author
- Walsh, Christopher A.
- ORCID
- Venue
- Cell Reports
- Publisher
- Elsevier BV
- Published
- 2015-02
- Volume
- 10
- Issue
- 4
- Pages
- 645
- ISSN
- 2211-1247 (ISSN-L)
- OpenAlex
- W4244739225
- Cited by
- 42
- References
- 0
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 4 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 7 · 2018: 6 · 2017: 3 · 2016: 4 · 2015: 3 · 2014: 1
- FWCI
- 3.65
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Cell Reports (publishedVersion, cc-by-nc-nd)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Single-cell and spatial transcriptomics
- Keywords
- somatic copy number variation, human brain, single-cell sequencing, neuronal heterogeneity, glial cells, neurogenesis, genetic heterogeneity, cognitive function
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