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 approach...

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Autores principales: Tatiana Maroilley, Xiao Li, Matthew Oldach, Francesca Jean, Susan J. Stasiuk, Maja Tarailo-Graovac
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/cc2274dbe4434c73b2ead9382c12c03a
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