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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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Detalles Bibliográficos
Autores principales:	Kaplun, Ludmila, Krautz-Peterson, Greice, Neerman, Nir, Stanley, Christine, Hussey, Shane, Folwick, Margo, McGarry, Ava, Weiss, Shirel, Kaplun, Alexander
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10160624/ https://www.ncbi.nlm.nih.gov/pubmed/37152986 http://dx.doi.org/10.3389/fgene.2023.1145285

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