Article
Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.
The Journal of molecular diagnostics : JMD - 1 Nov 2016
Kudalkar Emily M, Almontashiri Naif A M, Huang Catherine, Anekella Bharathi, Bowser Mark, Hynes Elizabeth, Garlick Russell, Funke Birgit H
Abstract excerpt
Diagnostic next-generation sequencing (NGS)-based gene panels are increasingly used for prevalent disorders with genetic and clinical heterogeneity. Clinical development, validation, and quality management of these panels ideally includes reference samples containing prevalent pathogenic variants; however, clinical domain expertise to select appropriate variants may not be present, samples are often not publicly...
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