Guideline-Adherent Clinical Validation of a Comprehensive 170-Gene DNA/RNA Panel for Determination of Small Variants, Copy Number Variations, Splice Variants, and Fusions on a Next-Generation Sequencing Platform in the CLIA Setting

We describe the clinical validation of a targeted DNA and RNA-based next-generation sequencing (NGS) assay at two clinical molecular diagnostic laboratories. This assay employs simultaneous DNA and RNA analysis of all coding exons to detect small variants (single-nucleotide variants, insertions, and...

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Detalles Bibliográficos
Autores principales: Boyle, Theresa A., Mondal, Ashis K., Saeed-Vafa, Daryoush, Ananth, Sudha, Ahluwalia, Pankaj, Kothapalli, Ravi, Chaubey, Alka, Roberts, Evans, Qin, Dahui, Magliocco, Anthony M., Rojiani, Amyn M., Kolhe, Ravindra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172991/
https://www.ncbi.nlm.nih.gov/pubmed/34093633
http://dx.doi.org/10.3389/fgene.2021.503830

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