Long-Read Sequencing Emerging in Medical Genetics

The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural variants, sequencing repetitive regions, phasing o...

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Published in:Frontiers in genetics Vol. 10; p. 426
Main Authors: Mantere, Tuomo, Kersten, Simone, Hoischen, Alexander
Format: Journal Article
Language:English
Published: Switzerland Frontiers Media S.A 07.05.2019
Subjects:
Genetics
long-read sequencing
medical genetics
next-generation sequencing
phasing
structural variation
tandem repeat expansion
structural variation
medical genetics
next-generation sequencing
phasing
tandem repeat expansion
pseudogenes
long-read sequencing
ISSN:1664-8021, 1664-8021
Online Access:Get full text
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Summary:The wide implementation of next-generation sequencing (NGS) technologies has revolutionized the field of medical genetics. However, the short read lengths of currently used sequencing approaches pose a limitation for the identification of structural variants, sequencing repetitive regions, phasing of alleles and distinguishing highly homologous genomic regions. These limitations may significantly contribute to the diagnostic gap in patients with genetic disorders who have undergone standard NGS, like whole exome or even genome sequencing. Now, the emerging long-read sequencing (LRS) technologies may offer improvements in the characterization of genetic variation and regions that are difficult to assess with the prevailing NGS approaches. LRS has so far mainly been used to investigate genetic disorders with previously known or strongly suspected disease loci. While these targeted approaches already show the potential of LRS, it remains to be seen whether LRS technologies can soon enable true whole genome sequencing routinely. Ultimately, this could allow the assembly of individual whole genomes used as a generic test for genetic disorders. In this article, we summarize the current LRS-based research on human genetic disorders and discuss the potential of these technologies to facilitate the next major advancements in medical genetics.
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Edited by: H. Steven Wiley, Pacific Northwest National Laboratory (DOE), United States
Reviewed by: Rui Chen, Baylor College of Medicine, United States; Adam Ameur, Uppsala University, Sweden
This article was submitted to Genomic Assay Technology, a section of the journal Frontiers in Genetics
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2019.00426