Article
Detection of revertant mosaicism in epidermolysis bullosa through Cas9-targeted long-read sequencing.
Human mutation - 1 Apr 2022
Natsuga Ken, Furuta Yoshikazu, Takashima Shota, Nohara Takuma, Kosumi Hideyuki, Mai Yosuke, Higashi Hideaki, Ujiie Hideyuki
Abstract excerpt
Revertant mosaicism (RM) is a phenomenon in which inherited mutations are spontaneously corrected in somatic cells. RM occurs in some congenital skin diseases, but genetic validation of RM in clinically revertant skin has been challenging, especially when homologous recombination (HR) is responsible for RM. Here, we introduce nanopore Cas9-targeted sequencing (nCATS) for identifying HR in clinically revertant...
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