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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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2024-04-01
Serie:	BMC Genomics
Soggetti:	Skewed X chromosome inactivation Non-random skew Exome sequencing Transcriptome Rare genetic disease Escape
Accesso online:	https://doi.org/10.1186/s12864-024-10240-2
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