Genomic Applications in Pathology -

Genomic Applications in Pathology (eBook)

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2014 | 2015
XV, 622 Seiten
Springer New York (Verlag)
978-1-4939-0727-4 (ISBN)
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Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist's role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology  and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing.

Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.​



George Jabboure Netto, MD
Johns Hopkins University, Department of Pathology, Baltimore, MD, USA.

Iris Schrijver, MD
Stanford University School of Medicine, Department of Pathology, Stanford, CA, USA.


Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist's role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing.Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.

George Jabboure Netto, MDJohns Hopkins University, Department of Pathology, Baltimore, MD, USA.Iris Schrijver, MDStanford University School of Medicine, Department of Pathology, Stanford, CA, USA.

1. Current Massively Parallel Sequencing Technologies: Platforms and Reporting ConsiderationsJohn R. ten Bosch, Wayne W. Grody2. Emerging Next Generation Sequencing Technologies Matthew W. Anderson3. Transcriptome Sequencing (RNA-Seq) Sugganth Daniel, Alberto Paniz-Mondolfi, Federico A. Monzon4. miRNA Expression Assays Cornelia Braicu , Beatriz M. Maia, Ioana Berindan-Neagoe, George A. Calin5. Circulating Tumor Cells: Enrichment and Genomic Applications Marija Balic and Richard J. Cote6. Circulating Cell-free DNA for Molecular Diagnostics and Therapeutic Monitoring Julia A. Beaver and Ben H. Park7. Genomic Pathology: Training for New Technology Richard L. Haspel8. Implementation of Genomic Sequencing Assays Joshua L. Deignan9. Regulatory and Reimbursement Issues in Genomic Testing  Jan A. Nowak10. Patents and Proprietary Assays Roger D. Klein11. Ethical Issues in Clinical Genetics and Genomics Henry T. Greely12. Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology PracticeTamara Jamaspishvili, Jeremy A. Squire13. Bioinformatics Tools in Clinical GenomicsDavid K. Crockett, Karl V. Voelkerding14. Next Generation Sequencing for Single Gene AnalysisHao Ho, Christopher D. Gocke15. Next Generation Sequencing for Gene PanelsMichael O. Dorschner16. Implementation of Exome Sequencing AssaysArunkanth Ankala, Madhuri R. Hegde17. Implementation of Genome Sequencing AssaysTina M. Hambuch, Carri-Lyn Mead18. Clinical Information Systems in the Era of Personalized MedicineJonathan Nowak, Lynn Bry19. Reporting Clinical Genomic Assay Results and the Role of the PathologistJanina A. Longtine20. Genomic Applications in Hematologic OncologyKevin E. Fisher and Charles E. Hill21. Genomic Applications in Brain Tumors Matija Snuderl22. Genomic Applications in Head and Neck CancersSun M. Ahn, Nishant Agrawal23. Genomic Applications in Breast Carcinoma Leticia de Mattos-Arruda, Britta Weigelt, Jorge S. Reis-Filho24. Genomic Applications in Pulmonary MalignanciesReinhard Büttner, Margarete Odenthal, Sabine Merkelbach-Bruse25. Genomic Applications in Colorectal and Pancreatic TumorsAndreas Jung, Ralph Hruban26. Molecular Pathology of Genitourinary Cancers: Translating the Cancer Genome to the ClinicJoshua I. Warrick, Scott A. Tomlins27. Genomic Applications in Gynecologic Malignancies Sarah Chiang, Luciano G. Martelotto, Britta Weigelt28. Genomic Applications in Epithelial Ovarian MalignanciesJames D. Brenton29. Genomic Applications in Soft Tissue Sarcomas Eva Wardelmann, Wolfgang Hartmann30. Genomic Applications in Inherited Genetic Disorders Brian L. Krock, Rong Mao, D. Hunter Best, Elaine Lyon31. Genomic Applications in Pharmacogenomics Rehan Qayyum32. Sequencing Cell Free DNA in the Maternal Circulation to Screen for Down Syndrome and Other Common Aneuploidies Glenn E. Palomaki33. Genomic Applications in the Clinical Management of Infectious Diseases Martina I. Lefterova, Niaz Banaei, Benjamin A. Pinsky

Erscheint lt. Verlag 16.9.2014
Zusatzinfo XV, 622 p. 85 illus., 79 illus. in color.
Verlagsort New York
Sprache englisch
Themenwelt Informatik Weitere Themen Bioinformatik
Medizin / Pharmazie Gesundheitsfachberufe
Medizin / Pharmazie Medizinische Fachgebiete Onkologie
Studium 1. Studienabschnitt (Vorklinik) Biochemie / Molekularbiologie
Studium 2. Studienabschnitt (Klinik) Humangenetik
Studium 2. Studienabschnitt (Klinik) Pathologie
Naturwissenschaften Biologie Genetik / Molekularbiologie
Schlagworte Circulating tumor cells • Clinical Genomics • Genomic Medicine • miRNA Assays • Pharmacogenomics • RNAseq • Sequencing Assays
ISBN-10 1-4939-0727-1 / 1493907271
ISBN-13 978-1-4939-0727-4 / 9781493907274
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