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…mehr
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.
Inhaltsangabe
1. Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations John R. ten Bosch, Wayne W. Grody
2. Emerging Next Generation Sequencing Technologies Matthew W. Anderson
3. Transcriptome Sequencing (RNA-Seq) Sugganth Daniel, Alberto Paniz-Mondolfi, Federico A. Monzon
4. miRNA Expression Assays Cornelia Braicu , Beatriz M. Maia, Ioana Berindan-Neagoe, George A. Calin
5. Circulating Tumor Cells: Enrichment and Genomic Applications Marija Balic and Richard J. Cote
6. Circulating Cell-free DNA for Molecular Diagnostics and Therapeutic Monitoring Julia A. Beaver and Ben H. Park
7. Genomic Pathology: Training for New Technology Richard L. Haspel
8. Implementation of Genomic Sequencing Assays Joshua L. Deignan
9. Regulatory and Reimbursement Issues in Genomic Testing Jan A. Nowak
10. Patents and Proprietary Assays Roger D. Klein
11. Ethical Issues in Clinical Genetics and Genomics Henry T. Greely
12. Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology Practice Tamara Jamaspishvili, Jeremy A. Squire
13. Bioinformatics Tools in Clinical Genomics David K. Crockett, Karl V. Voelkerding
14. Next Generation Sequencing for Single Gene Analysis Hao Ho, Christopher D. Gocke
15. Next Generation Sequencing for Gene Panels Michael O. Dorschner
16. Implementation of Exome Sequencing Assays Arunkanth Ankala, Madhuri R. Hegde
17. Implementation of Genome Sequencing Assays Tina M. Hambuch, Carri-Lyn Mead
18. Clinical Information Systems in the Era of Personalized Medicine Jonathan Nowak, Lynn Bry
19. Reporting Clinical Genomic Assay Results and the Role of the Pathologist Janina A. Longtine
20. Genomic Applications in Hematologic Oncology Kevin E. Fisher and Charles E. Hill
21. Genomic Applications in Brain Tumors Matija Snuderl
22. Genomic Applications in Head and Neck Cancers Sun M. Ahn, Nishant Agrawal
23. Genomic Applications in Breast Carcinoma Leticia de Mattos-Arruda, Britta Weigelt, Jorge S. Reis-Filho