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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Long-read sequencing for rare human genetic diseases
Satomi Mitsuhashi1, Naomichi Matsumoto2
1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa, Japan. satomits@yokohama-cu.ac.jp.
Journal of Human Genetics
|September 28, 2019
Summary
Long-read sequencing offers hope for diagnosing rare genetic diseases with unknown causes by overcoming limitations of short-read technologies. This approach can identify mutations in challenging genomic regions, improving genetic disease understanding and future therapies.
Area of Science:
- Genomics
- Human Genetics
- Molecular Biology
Background:
- Short-read sequencing has limitations in diagnosing rare genetic diseases, with diagnostic rates below 50% for many unsolved cases.
- Pathogenic mutations may reside in difficult-to-sequence genomic regions, such as tandem repeats or complex structural variations, missed by conventional methods.
Purpose of the Study:
- To explore the potential of long-read sequencing technologies for identifying causative mutations in rare genetic diseases.
- To highlight how long-read sequencing can address the diagnostic gap and advance understanding of genetic disorders.
Main Methods:
- Review of studies utilizing long-read sequencing for genome analysis.
- Application of long-read sequencing to identify pathogenic variants in unsolved genetic diseases.
Main Results:
- Long-read sequencing successfully analyzes challenging genomic regions, including tandem repeats and structural aberrations.
- Studies demonstrate the utility of long-read sequencing in identifying causative mutations for previously undiagnosed genetic diseases.
Conclusions:
- Long-read sequencing holds significant promise for improving diagnostic rates in rare genetic diseases.
- Further application of long-read sequencing can deepen our understanding of the human genome and disease mechanisms, paving the way for future molecular diagnostics and therapies.
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