Part I Genomic Technologies
1 Current Massively Parallel Sequencing Technologies:
Platforms and Reporting Considerations ....................... 3
John R. ten Bosch, Waytve Grody
2 Emerging Next-Generation Sequencing Technologies ............ 19
Matthew W. Anderson
3 Transcriptome Sequencing (RNA-Seq) .......................... 31
Sugganth Daniel, Alberto Paniz-Mondolfi, Federico A. Monzon
4 MiRNA Expression Assays ..................................... 45
Cornelia Braicu, Beatriz M. Maia, Ioana Berindan-Neagoe,
George A. Calin
5 Circulating Tumor Cells: Enrichment and Genomic
Applications ................................................ 71
Marija Balic, Richard J. Cote
6 Circulating Cell-Free DNA for Molecular Diagnostics and
Therapeutic Monitoring ...................................... 85
Julia A. Beaver, Ben H. Park
Part II Practice Related Aspects of Clinical Genomics
7 Genomic Pathology: Training for New Technology ............. 101
Richard L. Haspel
8 Implementation of Genome Sequencing Assays ................. 111
Joshua L. Deignan
9 Regulatory and Reimbursement Issues in Genomic Testing ..... 119
Jan A. Nowak
10 Patents and Proprietary Assays ............................. 129
Roger D. Klein
11 Ethical Issues in Clinical Genetics and Genomics ........... 141
Henry T. Greely
Part III Clinical Implementation of Diagnostic Genomics
12 Transitioning Discoveries from Cancer Genomics Research
Laboratories into Pathology Practice ....................... 159
Tamara Jamaspishvili, Jeremy A. Squire
13 Bioinformatics Tools in Clinical Genomics .................. 177
David K. Crockett, Karl V. Voelkerding
14 Next Generation Sequencing for Single-Gene Analysis ........ 197
Hao Ho, Christopher D. Gocke
15 Next-Generation Sequencing for Gene Panels ................. 209
Michael O. Dorschner
16 Implementation of Exome Sequencing Assay ................... 225
Arunkanth Ankala, Madhuri R. Hegde
17 Implementation of Genome Sequencing Assays ................. 241
Tina M. Hambuch, Carri-Lyn Mead
18 Clinical Information Systems in the Era of Personalized
Medicine ................................................... 259
Jonathan Nowak, Lynn Bry
19 Reporting Clinical Genomic Assay Results and the Role of
the Pathologist ............................................ 277
Janina A. Longtine
Part IV Genomic Applications in Oncology
20 Genomic Applications in Hematologic Oncology ............... 297
Kevin E. Fisher, Charles E. Hill
21 Genomic Applications in Brain Tumors ....................... 321
Matija Snuderl
22 Genomic Applications in Head and Neck Cancers .............. 341
Sun M. Ahn, Nishant Agrawal
23 Genomic Applications in Breast Carcinoma ................... 359
Leticia De Mattos-Arruda, Britta Weigelt, Jorge S.
Reis-Filhо
24 Genomic Applications in Pulmonary Malignancies ............. 383
Reinhard Büttner, Margarete Odenthal, Sabine Merkelbach-
Bruse
25 Genomic Applications in Colorectal and Pancreatic Tumors ... 415
Andreas Jung, Ralph Hruban
26 Molecular Pathology of Genitourinary Cancers: Translating
the Cancer Genome to the Clinic ............................ 435
Joshua I. Warrick, Scott A. Tomlins
27 Genomic Applications in Gynecologic Malignancies ........... 465
Sarah Chiang, Luciano G. Martelotto, Britta Weigelt
28 Genomic Applications in Epithelial Ovarian Malignancies .... 489
James D. Brenton
29 Genomic Applications in Soft Tissue Sarcomas ............... 503
Eva Wardelmann, Wolfgang Hartmann
Part V Genomic Applications of Inherited and Infectious
Diseases
30 Genomic Applications in Inherited Genetic Disorders ........ 535
Bryan L. Krock, Rong Mao, D. Hunter Best, Elaine Lyon
31 Genomic Applications in Pharmacogenomics ................... 553
Rehan Qayyum
32 Sequencing Cell Free DNA in the Maternal Circulation to
Screen for Down Syndrome and Other Common Aneuploidies ..... 563
Glenn E. Palomaki
33 Genomic Applications in the Clinical Management
of Infectious Diseases ..................................... 581
Martina I. Lefterova, Niaz Banaei, Benjamin A. Pinsky
Index ......................................................... 605
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