Using combined RNA/DNA short read sequencing to investigate allele-specific expression from the inactive X chromosome in human cells (opens in new tab)

Many genomic regions exhibit allele-specific expression. This effect is most pronounced in imprinted genes, where one copy of a gene is epigenetically silenced, and the inactive X chromosome of female cells, where almost the entire chromosome is silenced. Allele specific gene expression can have significant effects on human health and is implicated in a wide array of diseases. Research into allele specific expression is most often carried out in mouse models where cross breeding of mouse stra...