CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA

CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA

Purpose: Newborn screening identifies rare diseases that result from the recessive inheritance of pathogenic variants in both copies of a gene. Long-read genome sequencing (LRS) is used for identifying and phasing genomic variants, but further efforts are needed to develop LRS for applications using...

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Detalles Bibliográficos
Autores principales: Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe
Formato: Artículo
Lenguaje:English
Publicado: Elsevier 2025-01-01
Colección:Genetics in Medicine Open
Materias:
Cystic fibrosis
Dried blood spots
Haplotype phasing
Long-read sequencing
Newborn screening
Acceso en línea:http://www.sciencedirect.com/science/article/pii/S2949774425000019

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