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Rare diseases encompass a diverse group of genetic disorders that affect a small proportion of the population. Identifying the underlying genetic causes of these conditions presents significant challenges due to their genetic heterogeneity and complexity. Conventional short-read sequencing (SRS) techniques have been widely used in diagnosing and investigating of rare diseases, with limitations due to the nature of short-read lengths. In recent years, long read sequencing (LRS) technologies have emerged as a valuable tool in overcoming these limitations. This minireview provides a concise overview of the applications of LRS in rare disease research and diagnosis, including the identification of disease-causing tandem repeat expansions, structural variations, and comprehensive analysis of pathogenic variants with LRS. Copyright © 2023 Elsevier Masson SAS. All rights reserved.

Citation

Si-Yan Yu, Yu-Lin Xi, Fu-Qiang Xu, Jian Zhang, Yan-Shan Liu. Application of long read sequencing in rare diseases: The longer, the better? European journal of medical genetics. 2023 Dec;66(12):104871

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PMID: 38832911

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