464 Nanopore Cas9-targeted sequencing as a tool for identifying revertant mosaicism in the skin

Abstract

Revertant mosaicism (RM) is a phenomenon in which germline mutations are spontaneously corrected in tissues. RM skin is often observed in genodermatoses, including epidermolysis bullosa (EB). However, the rigorous validation of RM in the skin has been technically challenging, especially when homologous recombination (HR) causes RM. Recently developed nanopore Cas9-targeted sequencing (nCATS) enables the enrichment and sequencing of specific regions (up to a few tens of kb) on gDNA without PCR amplification or the reverse transcription of mRNA.