Deciphering complex genome rearrangements in C. elegans using short-read whole genome sequencing.

ABSTRACT: Genomic rearrangements cause congenital disorders, cancer, and complex diseases in human. Yet, they are still understudied in rare diseases because their detection is challenging, despite the advent of whole genome sequencing (WGS) technologies. Short-read (srWGS) and long-read WGS approaches are regularly compared, and the latter is commonly recommended in studies focusing on genomic rearrangements. However, srWGS is currently the most economical, accurate, and widely supported technology. In Caenorhabditis elegans (C. elegans), such variants, induced by various mutagenesis processes, have been used for decades to balance large genomic regions by preventing chromosomal crossover events and allowing the maintenance of lethal mutations. Interestingly, those chromosomal rearrangements have r

SUBMITTER: Maroilley T 

PROVIDER: S-EPMC8440550 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature