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...

Popoln opis

Bibliografske podrobnosti

Principais autores:	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:	Artigo
Jezik:	Inglês
Izdano:	BMC 2024-04-01
Serija:	BMC Genomics
Teme:	Skewed X chromosome inactivation Non-random skew Exome sequencing Transcriptome Rare genetic disease Escape
Online dostop:	https://doi.org/10.1186/s12864-024-10240-2
Oznake:	Označite Brez oznak, prvi označite!