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Article

Mosaic autosomal aneuploidies are detectable from single-cell RNAseq data.

BMC genomics - 25 Nov 2017

Griffiths Jonathan A, Scialdone Antonio, Marioni John C

Abstract excerpt

BACKGROUND: Aneuploidies are copy number variants that affect entire chromosomes. They are seen commonly in cancer, embryonic stem cells, human embryos, and in various trisomic diseases. Aneuploidies frequently affect only a subset of cells in a sample; this is known as "mosaic" aneuploidy. A cell that harbours an aneuploidy exhibits disrupted gene expression patterns which can alter its behaviour. However,...

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Identifiers

PMID: 29178830
DOI: 10.1186/s12864-017-4253-x
PMCID: PMC5702132

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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