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...

Полное описание

Библиографические подробности
Главные авторы:	Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe
Формат:	Статья
Язык:	English
Опубликовано:	Elsevier 2025-01-01
Серии:	Genetics in Medicine Open
Предметы:	Cystic fibrosis Dried blood spots Haplotype phasing Long-read sequencing Newborn screening
Online-ссылка:	http://www.sciencedirect.com/science/article/pii/S2949774425000019

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