Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease

Abstract Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either the maternal or paternal copy of the X chromosome i...

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Bibliographic Details
Main Authors: Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Genomics
Subjects:
Skewed X chromosome inactivation
Non-random skew
Exome sequencing
Transcriptome
Rare genetic disease
Escape
Online Access:https://doi.org/10.1186/s12864-024-10240-2

Internet

https://doi.org/10.1186/s12864-024-10240-2

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