Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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The Growing Potential of Long-Read Sequencing in Identifying Previously Elusive Causative Variants in Patients with Undiagnosed Rare Diseases

  • Yeonsong Choi (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology (UNIST)) ;
  • David Whee-Young Choi (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology (UNIST)) ;
  • Hyeyeon Won (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology (UNIST)) ;
  • Semin Lee (Department of Biomedical Engineering, Ulsan National Institute of Science and Technology (UNIST))
  • Received : 2024.08.29
  • Accepted : 2024.09.12
  • Published : 2024.10.31
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Abstract

Rare diseases, largely driven by genetic factors, present significant diagnostic challenges due to their complex genomic variations. Traditional short-read sequencing methods, such as whole-exome sequencing and whole-genome sequencing, are widely used to detect genomic alterations in a time- and cost-effective manner. However, some rare conditions are often left undiagnosed due to the technical limitations of current sequencing platforms. To overcome these limitations, long-read sequencing (LRS) technology has been applied to various fields of clinical research including rare diseases. With LRS, researchers are able to accurately characterize complex variants such as structural variations, tandem repeats, transposable elements, and transcript isoforms. This review article explores the current applications of LRS in rare disease research, highlighting its potential in identifying previously elusive causative variants in undiagnosed rare diseases.

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References

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