Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease
Numrah Fadra,
Laura E Schultz-Rogers,
Pritha Chanana
et al.
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 in a majority of cells results in a skewed or non-random pattern of X inactivation and is observed in over 25% of adult females. Identifying skewed X inactivation is of clinical significance in patients with s… Show more
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