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

IF 6.4 2区医学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Mutation Research-Reviews in Mutation Research Pub Date : 2025-01-01 DOI:10.1016/j.mrrev.2024.108529

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

引用次数: 0

Abstract

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 next-generation sequencing. LRS is an effective tool for the clinical study of the etiology of complex genetic diseases. In this review, we summarized the current research on the application of LRS in diseases across various systems. We also reported the improvements in the diagnostic rate and common variant types of LRS in different studies, providing a foundation for the discovery of new disease mechanisms, which is anticipated to play a crucial role in future research on genetic diseases.

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解码复杂性：长读序列在揭示遗传疾病病因中的作用。

近年来，下一代高通量测序技术作为一种辅助检测手段被广泛应用于临床，用于孟德尔病的鉴定和诊断。然而，由于阅读长度的限制和复杂基因组区域覆盖率低，许多遗传疾病的病因尚不清楚。长读测序（LRS）解决了下一代测序的这些局限性。LRS是复杂遗传病病因临床研究的有效工具。本文就LRS在不同系统疾病中的应用研究现状进行综述。我们还报道了不同研究中LRS的诊断率和常见变异类型的提高，为发现新的发病机制奠定了基础，有望在今后的遗传疾病研究中发挥重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Mutation Research-Reviews in Mutation Research 生物-毒理学

CiteScore

12.20

自引率

1.90%

发文量

审稿时长

15.7 weeks

期刊介绍： The subject areas of Reviews in Mutation Research encompass the entire spectrum of the science of mutation research and its applications, with particular emphasis on the relationship between mutation and disease. Thus this section will cover advances in human genome research (including evolving technologies for mutation detection and functional genomics) with applications in clinical genetics, gene therapy and health risk assessment for environmental agents of concern.