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Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition


  • Nothing to declare.

Corresponding author: Chee-Seng Ku, Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.

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The clinical application of next-generation sequencing (NGS) as a diagnostic tool has become increasingly evident. The coupling of NGS technologies with new genomic sequence enrichment methods has made the sequencing of panels of target genes technically feasible, at the same time as making such an approach cost-effective for diagnostic applications. In this article, we discuss recent studies that have applied NGS in the diagnostic setting in relation to hereditary cancer.