Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements
Jesper Eisfeldt, Adam Ameur, Felix Lenner, Esmee ten Berk de Boer, Marlene Ek, Josephine Wincent, Raquel Vaz, Jesper Ottosson, Tord Jonsson, Sofie E Ivarsson, Sofia Thunström, Alexandra Topa, Simon Stenberg, Anna Rohlin, Anna Sandestig, , Anna Lindstrand
This study evaluates HiFi Revio long-read sequencing for detecting chromosomal rearrangements in rare diseases, showing high accuracy for breakpoint junctions and derivative chromosome structures.
medRxiv · Dec 15, 2023 · PreprintGenetic & Genomic Medicine