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...

Mô tả đầy đủ

Chi tiết về thư mục
Những tác giả chính:	Neeru Gandotra, Antariksh Tyagi, Irina Tikhonova, Caroline Storer, Curt Scharfe
Định dạng:	Bài viết
Ngôn ngữ:	English
Được phát hành:	Elsevier 2025-01-01
Loạt:	Genetics in Medicine Open
Những chủ đề:	Cystic fibrosis Dried blood spots Haplotype phasing Long-read sequencing Newborn screening
Truy cập trực tuyến:	http://www.sciencedirect.com/science/article/pii/S2949774425000019

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