ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing
Technological advances in Next-Generation Sequencing dramatically increased clinical efficiency of genetic testing, allowing detection of a wide variety of variants, from single nucleotide events to large structural aberrations. Whole Genome Sequencing (WGS) has allowed exploration of areas of the g...
Main Authors: | Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-04-01
|
Series: | Frontiers in Genetics |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/full |
Similar Items
-
Editorial: Novel applications of ONT technologies in genomics and transcriptomics
by: Eugenia Poliakov, et al.
Published: (2024-03-01) -
Comparison of ONT and CCS sequencing technologies on the polyploid genome of a medicinal plant showed that high error rate of ONT reads are not suitable for self-correction
by: Peng Zeng, et al.
Published: (2022-08-01) -
Comparison of structural variants detected by PacBio-CLR and ONT sequencing in pear
by: Yueyuan Liu, et al.
Published: (2022-12-01) -
Systematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS
by: Ianthe A. E. M. van Belzen, et al.
Published: (2023-07-01) -
Recombination map construction method using ONT sequence
by: Zuoquan Chen, et al.
Published: (2023-01-01)