Preface; Contents; Contributors; Part I: Genomic Technologies; Chapter 1: Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations; Introduction; Platform Chemistry; Rapid Sequencing Revolution; Enrichment Techniques; Different Tests, Different Outcomes; Analysis; Interpretation and Reporting; Dealing with Incidental Findings; Gene Patents; Follow-up, Reanalysis, and Duty to Recontact; Conclusions; References; Chapter 2: Emerging Next-Generation Sequencing Technologies; Introduction; Advantages of Single-Molecule Sequencing

Single-Molecule Cycle Sequencing Real-Time Single-Molecule Sequencing with Polymerase; Sequencing Through Direct Imaging; Sequencing with Protein Nanopores; Solid-State Nanopore Sequencing; Conclusions; References; Chapter 3: Transcriptome Sequencing (RNA-Seq); Introduction; Microarrays, Tag Methods, and RNA-Seq; Sequencing Platforms; RNA Sequencing; Transcriptome Assembly; Specific RNA-Seq Approaches; Clinical Applications of RNA-Seq; Inherited Conditions; Complex Conditions; Cancer; Clinical Microbiology Applications; Conclusions; References

Chapter 4: MiRNA Expression AssaysIntroduction; MiRNA in Human Disease; Cancer; Adipogenesis; Cardiovascular Diseases; Autoimmune Diseases; Which Types of Biological Samples Can Be Used for MiRNA Studies?; MiRNA Extraction Protocols; MiRNA Quantity and Quality Control; MiRNA Stability; Advanced Techniques for Examining MiRNA Expression; Northern Blotting; Quantitative Reverse Transcription-Polymerase Chain Reaction; In Situ Hybridization; Microarrays; Next-Generation Sequencing; Data Processing and Normalization; Analysis of MiRNA Function and Gene Interaction

MiRNA Mimics and Inhibitors Conclusions; References; Chapter 5: Circulating Tumor Cells: Enrichment and Genomic Applications; Introduction; Enrichment Techniques for CTC; Size-Based Microchips; Affinity-Based Microchips; Other Microchip Methods; Detection Methods; Molecular Characterization of CTC; Cancer Stem Cells; CSC in Dissemination; Epithelial-Mesenchymal Transition; Global Genomic Profiling of CTC; Mutation Analyses of CTC; Transcriptional CTC Profiling; Epigenomic and miRNA Characterization of CTC; Conclusions; References

Chapter 6: Circulating Cell-Free DNA for Molecular Diagnostics and Therapeutic Monitoring; Introduction; Applications in Maternal-Fetal Medicine; Applications in Cancer Diagnostics; ccfDNA Detection Technologies; BEAMing; Droplet Digital PCR; Microfluidic Based Digital PCR; PARE; Additional Medical Applications of ccfDNA; Conclusions; References; Part II: Practice Related Aspects of Clinical Genomics; Chapter 7: Genomic Pathology: Training for New Technology; Introduction; Integration of Genomic Testing into Clinical Care; Are Physicians Prepared for the Genomic Era?