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Reporting Clinical Genomic Assay Results and the Role of the Pathologist

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Genomic Applications in Pathology

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Abstract

Next-generation sequencing is a disruptive technology that significantly impacts pathologists’ role in analyzing, interpreting, and reporting clinical laboratory results. Clinical laboratory personnel must develop procedures and policies for assay validation, generating and managing the vast amount of data, integrating bioinformatics analyses and filters, and annotating variants to create clear, informative, and timely reports. Professional societies and organizations assist with recommendations and guidelines. This chapter delineates current challenges to generating next-generation sequencing clinical reports and emerging solutions.

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Authors and Affiliations

  1. Departments of Pathology and Laboratory Medicine, Yale University School of Medicine, Pathology and Laboratory Medicine, Yale New Haven Hospital and Smilow Cancer Hospital, New Haven, CT, USA

    Janina A. Longtine

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  1. Janina A. Longtine
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Correspondence to Janina A. Longtine .

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Editors and Affiliations

  1. Professor and Chair of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA

    George Jabboure Netto

  2. Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Clinical Professor of Pathology, University of Chicago Pritzker School of Medicine, Evanston, IL, USA

    Karen L. Kaul

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Longtine, J.A. (2019). Reporting Clinical Genomic Assay Results and the Role of the Pathologist. In: Netto, G., Kaul, K. (eds) Genomic Applications in Pathology. Springer, Cham. https://doi.org/10.1007/978-3-319-96830-8_20

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  • DOI: https://doi.org/10.1007/978-3-319-96830-8_20

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