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Article

Decoding complexity: The role of long-read sequencing in unraveling genetic disease etiologies.

Mutation research. Reviews in mutation research - 1 Jan 2025

Xu Ran, Zhang Mengmeng, Yang Xiaoming, Tian Weiming, Li Changyan

Abstract excerpt

In recent years, next-generation high-throughput sequencing technology has been widely used in clinical practice for the identification and diagnosis of Mendelian diseases as an auxiliary detection method. Nevertheless, due to the limitations in read length and poor coverage of complex genomic regions, the etiology of many genetic diseases is unclear. Long-read sequencing (LRS) addresses these limitations of...

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PMID: 39788369
DOI: 10.1016/j.mrrev.2024.108529

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