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Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

3 Oct 2019

Abstract excerpt

Aneuploidy is a major source of gene dosage imbalance due to copy number alterations (CNA), and viable human trisomies are model disorders of altered gene expression. We study gene and allele-specific expression (ASE) of 9668 single-cell fibroblasts from trisomy 21 (T21) discordant twins and from mosaic T21, T18, T13 and T8. We examine 928 single cells with deep scRNAseq. Expected and observed overexpression of...

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PMID: 31582743
DOI: 10.1038/s41467-019-12273-8

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