High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing

The CYP21A2 gene, mapped to the RCCX module in 6p21.3, is responsible for 21-hydroxylase deficiency (21-HD). In this work, we leveraged Oxford Nanopore Technology (ONT) Long Read sequencing (LRS) to analyze samples from an Argentinian cohort of 21-HD. A total of 34 samples were sequenced in 2 amp...

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Autores principales:	Claps, Aldana, Fernández, Cecilia, Fernandez, Franco Daniel, Macchiaroli, Natalia, Ingravidi, Marina L., Delea, Marisol, Castro, Tania, Laiseca, Julieta, Kamenetzky, Laura, Taboas, Melisa, Dain, Liliana
Formato:	Artículo
Lenguaje:	Inglés
Publicado:	Springer Nature 2025
Materias:	Secuenciación por Nanoporos Genética Nanopore Sequencing Genetics RCCX Modules CYP21A2 Long Read Sequencing 21-hydroxylase Deficiency
Acceso en línea:	http://hdl.handle.net/20.500.12123/23066 https://www.nature.com/articles/s41598-025-03799-7 https://doi.org/10.1038/s41598-025-03799-7