HIGH PRECISION CHARACTERIZATION OF RCCX REARRANGEMENTS IN A 21-HYDROXYLASE DEFICIENCY LATIN AMERICAN COHORT USING OXFORD NANOPORE LONG READ SEQUENCING
Aldana Claps, Jorge E. Kolomenski, Franco Daniel Fernández, Natalia Macchiaroli, Marina Luz Ingravidi, Marisol Delea, Cecilia S. Fernández, Tania Castro, Julieta Eva Laiseca, Laura Kamenetzky, Melisa Taboas, Liliana Daín
This study uses Oxford Nanopore long-read sequencing to characterize RCCX rearrangements in a Latin American 21-hydroxylase deficiency cohort, identifying new genetic variants and reclassifying a previously overlooked case.
Scientific Reports · Jul 10, 2025Peer-reviewedGenetic & Genomic Medicine