ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing

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...

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Hlavní autoři: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun
Médium: Článek
Jazyk:English
Vydáno: Frontiers Media S.A. 2023-04-01
Edice:Frontiers in Genetics
Témata:
long read sequencing
structural variants (SVs)
orthogonal variant confirmation
clinical genetic testing
whole genome sequencing (WGS)
oxford nanopore technologies (ONT)
On-line přístup:https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/full

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