ArticleGenome research2016
Assessment of megabase-scale somatic copy number variation using single-cell sequencing.
Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers.
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Who cites it
73 citing papers in PubMed.
- Somatic mosaicism in the brain: linking development, ageing and neurodegeneration.Nature reviews. Neurology · 2026Review
- Review
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- High-resolution detection of copy number alterations in single cells with HiScanner.Nature communications · 2025Article
- High-resolution detection of copy number alterations in single cells with HiScanner.bioRxiv : the preprint server for biology · 2025Article
- Benchmarking copy number aberrations inference tools using single-cell multi-omics datasets.Briefings in bioinformatics · 2025Article
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.Communications biology · 2024Article
- Detection of mosaic and population-level structural variants with Sniffles2.Nature biotechnology · 2024Article
- Building the brain mosaic: an expanded view.Trends in genetics : TIG · 2024Review
- Mutational Landscapes of Normal Skin and Their Potential Implications in the Development of Skin Cancer: A Comprehensive Narrative Review.Journal of clinical medicine · 2024Review
- Mapping recurrent mosaic copy number variation in human neurons.Nature communications · 2024Article
- scAbsolute: measuring single-cell ploidy and replication status.Genome biology · 2024Article
- Article
- Single-cell lineage tracing with endogenous markers.Biophysical reviews · 2024Review
- Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.bioRxiv : the preprint server for biology · 2023Article
- Chromosome instability and aneuploidy in the mammalian brain.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2023Review
- Long-read whole-genome analysis of human single cells.Nature communications · 2023Article
- Technological and computational approaches to detect somatic mosaicism in epilepsy.Neurobiology of disease · 2023Review
- Somatic copy number variant load in neurons of healthy controls and Alzheimer's disease patients.Acta neuropathologica communications · 2022Article
13 more citing papers are in PubMed but not listed here.
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Authors and funding
3 authors.
Funding
Abstract
Megabase-scale copy number variants (CNVs) can have profound phenotypic consequences. Germline CNVs of this magnitude are associated with disease and experience negative selection. However, it is unknown whether organismal function requires that every cell maintain a balanced genome. It is possible that large somatic CNVs are tolerated or even positively selected. Single-cell sequencing is a useful tool for assessing somatic genomic heterogeneity, but its performance in CNV detection has not been rigorously tested. Here, we develop an approach that allows for reliable detection of megabase-scale CNVs in single somatic cells. We discover large CNVs in 8%-9% of cells across tissues and identify two recurrent CNVs. We conclude that large CNVs can be tolerated in subpopulations of cells, and particular CNVs are relatively prevalent within and across individuals.
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