Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

Gene dosage anomalies such as those caused by aneuploidy underlie diseases including Down syndrome. Here, the authors perform allele-specific single cell transcriptome analysis to investigate the mechanisms of gene dosage imbalance in fibroblasts with trisomies T21, T18, T13 and T8.

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Bibliographic Details
Main Authors: Georgios Stamoulis, Marco Garieri, Periklis Makrythanasis, Audrey Letourneau, Michel Guipponi, Nikolaos Panousis, Frédérique Sloan-Béna, Emilie Falconnet, Pascale Ribaux, Christelle Borel, Federico Santoni, Stylianos E. Antonarakis
Format: article
Language:EN
Published: Nature Portfolio 2019
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Online Access:https://doaj.org/article/2887d59c2b434615a38d35934b46f74e
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