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

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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Bibliographic Details
Main Authors: Theresa A. Boyle, Ashis K. Mondal, Daryoush Saeed-Vafa, Sudha Ananth, Pankaj Ahluwalia, Ravi Kothapalli, Alka Chaubey, Evans Roberts, Dahui Qin, Anthony M. Magliocco, Amyn M. Rojiani, Ravindra Kolhe
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-05-01
Series:Frontiers in Genetics
Subjects:
next-generation sequencing
oncology
targeted panel
DNA variants
RNA variants
validation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.503830/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.503830/full

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