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Karin S. Kassahn, Hamish S. Scott and Melody C. Caramins Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge Human Mutation 35

Version of Record online: 6 MAR 2014 | DOI: 10.1002/humu.22525

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Massively parallel sequencing (MPS) has become a powerful tool for the clinical management of patients with applications in diagnosis, guidance of treatment, prediction of drug response, and carrier screening. A considerable challenge for the clinical implementation of these technologies is the management of the vast amount of sequence data generated, in particular the annotation and clinical interpretation of genomic variants. Here, we describe annotation steps that can be automated and common strategies employed for variant prioritization. The lines between diagnostics and research start to blur as each patient becomes a study for new disease variants in its own right (“personal genomics”).

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