Characterization of FMR1 Repeat Expansion and Intragenic Variants by Indirect Sequence Capture.

ABSTRACT: Traditional methods for the analysis of repeat expansions, which underlie genetic disorders, such as fragile X syndrome (FXS), lack single-nucleotide resolution in repeat analysis and the ability to characterize causative variants outside the repeat array. These drawbacks can be overcome by long-read and short-read sequencing, respectively. However, the routine application of next-generation sequencing in the clinic requires target enrichment, and none of the available methods allows parallel analysis of long-DNA fragments using both sequencing technologies. In this study, we investigated the use of indirect sequence capture (Xdrop technology) coupled to Nanopore and Illumina sequencing to characterize FMR1, the gene responsible of FXS. We achieved the efficient enrichment (> 200×)

SUBMITTER: Grosso V 

PROVIDER: S-EPMC8504923 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature