长读长测序技术在罕见病诊断中的应用展望

doi:10.3969/j.issn.1673-8640.2026.02.001

检验医学 ›› 2026, Vol. 41 ›› Issue (2): 103-105.DOI: 10.3969/j.issn.1673-8640.2026.02.001

• 遗传性疾病精准检测与诊断专题 • 下一篇

长读长测序技术在罕见病诊断中的应用展望

郁婷婷¹, 傅启华²()

1.上海交通大学医学院附属上海儿童医学中心遗传分子诊断科，上海 200127
2.四川省医学科学院四川省人民医院，四川成都 610072

收稿日期:2026-01-19 修回日期:2026-01-30 出版日期:2026-02-28 发布日期:2026-03-06
通讯作者: 傅启华，E-mail：qihuafu@126.com。
作者简介:郁婷婷，女，1983年生，博士，副研究员，主要从事罕见病分子诊断和发病机制研究。
基金资助:
上海市浦东新区卫生健康委重点学科群(PWZxq2022-07)

Prospects of long-read sequencing technology in the diagnosis of rare diseases

YU Tingting¹, FU Qihua²()

1. Department of Medical Genetics and Molecular Diagnostic Laboratory， Shanghai Children's Medical Center，Shanghai Jiao Tong University School of Medicine， Shanghai 200127， China
2. Sichuan Academy of Medical Sciences， Sichuan Provincial People's Hospital， Chengdu 610072，Sichuan， China

Received:2026-01-19 Revised:2026-01-30 Online:2026-02-28 Published:2026-03-06

摘要/Abstract

摘要：

罕见病种类繁多、表型复杂，约有50%的罕见病患者经全外显子组测序（WES）等常规基因检测无法获得确切诊断。长读长测序（LRS）作为一种新兴测序技术，为罕见病诊断提供了新的机遇。随着技术的不断进步、分析流程的标准化和参考数据库的建设，LRS有望突破瓶颈，成为推动罕见病精准诊断的关键技术。文章介绍了LRS技术的基本原理、优势，及其在罕见病诊断中的应用现状和面临的挑战，并结合“遗传性疾病精准检测与诊断”专题相关论文，探讨LRS在罕见病分子诊断中的应用前景。

关键词: 长读长测序, 罕见病, 分子诊断

Abstract:

Rare diseases are diverse in type and phenotype complex. Approximately 50% of rare disease patients can not receive a definite diagnosis through conventional genetic testing such as whole-exome sequencing（WES）. Long-read sequencing（LRS），as an emerging sequencing technology，offers new opportunities for the diagnosis of rare diseases. With continuous technological advancements，standardized analysis processes and the construction of reference databases，LRS is expected to break through bottlenecks and become a key technology for promoting precise diagnosis of rare diseases. This review focuses on the basic principles，advantages of LRS technology，its current application status and challenges in the diagnosis of rare diseases，and discusses the application prospects of LRS in the molecular diagnosis of rare diseases in combination with related papers in the Precision Detection and Diagnosis of Genetic Diseases special issue.

Key words: Long-read sequencing, Rare disease, Molecular diagnosis

中图分类号:

R446.7

郁婷婷, 傅启华. 长读长测序技术在罕见病诊断中的应用展望[J]. 检验医学, 2026, 41(2): 103-105.

YU Tingting, FU Qihua. Prospects of long-read sequencing technology in the diagnosis of rare diseases[J]. Laboratory Medicine, 2026, 41(2): 103-105.

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长读长测序技术在罕见病诊断中的应用展望

Prospects of long-read sequencing technology in the diagnosis of rare diseases

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