Researchers from Mayo Clinic Detail Research in Genetic Diseases and Conditions (Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease).

A recent study conducted by researchers at the Mayo Clinic explores the identification of skewed X chromosome inactivation (XCI) in patients with suspected rare genetic diseases. XCI is an epigenetic process that occurs in mammalian females, where one of the two copies of the X chromosome in each cell is randomly silenced. Skewed XCI, which is observed in over 25% of adult females, can result in biased expression of disease-causing genes. The researchers developed a method using exome and transcriptome sequencing data to accurately estimate XCI and skew status in female patients with suspected rare genetic diseases. This study provides valuable insights into the diagnosis and understanding of genetic diseases. [Extracted from the article]

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