Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter.
Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies.
All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor.
The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management.
1. 7.1. Introduction - p. 103 2. 7.2. Clinical Applications of DNA Methylation Analysis - p. 107 3. 7.3. Methods for DNA Methylation Analysis - p. 109 4. 7.4. Single-Cell DNA Methylation Analysis - p. 126 5. 7.5. Conclusions - p. 127 6. Chapter 8. Perspectives for Future DNA Sequencing Techniques and Applications - p. 141 7. Chapter 9. Advanced Personal Genome Sequencing as the Ultimate Diagnostic Test - p. 155 8. Chapter 10. Application of Padlock and Selector Probes in Molecular Medicine - p. 173 9. 10.1. Introduction - p. 173 10. 10.2. Padlock and Selector Probes - p. 173 11. 10.3. Application of Padlock and Molecular Inversion Probes for Genotyping - p. 176 12. 10.4. Biosensor Approaches Based on Rolling Circle–Amplified Padlock Probes - p. 177 13. 10.5. Application of Padlock Probes for Infectious Disease Diagnostics - p. 179 14. 10.6. Targeted Multiplex Copy Number Variation Analysis Using Selector Probes - p. 182 15. 10.7. High-Throughput Targeted Sequencing Using Selectors and Gap-Fill Padlock Probes - p. 182 16. 10.8. In Situ Nucleic Acid Detection Using Padlock Probes - p. 184 17. 10.9. Automation and Miniaturization of Padlock Probe/Rolling Circle Amplification Assays - p. 189 18. 10.10. Conclusions - p. 190 19. Chapter 11. Advances in Microfluidics and Lab-on-a-Chip Technologies - p. 197 20. Chapter 12. Protein Diagnostics by Proximity Ligation: Combining Multiple Recognition and DNA Amplification for Improved Protein Analyses - p. 219 21. Chapter 13. Application of Proteomics to Medical Diagnostics - p. 233 22. Chapter 14. Molecular Cytogenetics in Molecular Diagnostics - p. 249 23. Chapter 15. Cytogenomics of Solid Tumors by Next-Generation Sequencing: A Clinical Perspective - p. 273 24. Chapter 16. Pharmacogenomics in Clinical Care and Drug Discovery - p. 281 25. 16.1. Introduction - p. 281 26. 16.2. Pharmacogenetics Versus Pharmacogenomics - p. 281 27. 16.3. History of Pharmacogenomics - p. 282 28. 16.4. Analytical Methods in Pharmacogenomics - p. 283 29. 16.5. Pharmacogenomics in Clinical Settings - p. 283 30. 16.6. Population Differences in Pharmacogenomics - p. 287 31. 16.7. Complex Phenotypes - p. 288 32. 16.8. Pharmacogenomics and Regulatory Agencies - p. 289 33. 16.9. Pharmacogenomics in Drug Development - p. 290 34. 16.10. Useful Resources in Pharmacogenomics - p. 292 35. 16.11. New Trends in Pharmacogenomics - p. 292 36. 16.12. Ethical Implications - p. 294 37. 16.13. Public Health Pharmacogenomics - p. 295 38. 16.14. Conclusions and Future Perspectives - p. 296 39. Chapter 17. Nutrigenomics: Integrating Genomic Approaches Into Nutrition Research - p. 305 40. 17.1. Introduction - p. 305 41. 17.2. Nature of Genetic Variation - p. 306 42. 17.3. Nutritional Epidemiology - p. 311 43. 17.4. Experimental Models - p. 312 44. 17.5. Defining the Phenotype - p. 315 45. 17.6. Integrating Complex Data Sets: Data Management, Bioinformatics, and Statistics - p. 320 46. 17.7. Conclusions - p. 321 47. Chapter 18. DNA Microarrays and Genetic Testing - p. 327 48. Chapter 19. Bioinformatics Tools for Data Analysis - p. 339 49. Chapter 20. Genomic Databases: Emerging Tools for Molecular Diagnostics - p. 353 50. Chapter 21. Molecular Diagnostic Applications in Forensic Science - p. 371 51. Chapter 22. New Perspectives in Mass Disaster Victim Identification Assisted by DNA Typing and Forensic Genomics - p. 395 52. Chapter 23. Preimplantation Genetic Diagnosis - p. 407 53. Chapter 24. Noninvasive Cell-Free DNA Prenatal Testing for Fetal Aneuploidy in Maternal Blood - p. 423 54. Chapter 25. Genetic Testing and Psychology - p. 445 55. Chapter 26. Genomic Medicine in Developing Countries and Resource-Limited Environments - p. 459 56. Chapter 27. Public Understanding of Genetic Testing and Obstacles to Genetics Literacy - p. 469 57. Chapter 28. Safety and the Biorepository - p. 479 58. Chapter 29. Quality Assurance in Genetic Laboratories - p. 493 59. Index - p. 501
Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter.
Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies.
All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor.
The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management.
1. 7.1. Introduction - p. 103 2. 7.2. Clinical Applications of DNA Methylation Analysis - p. 107 3. 7.3. Methods for DNA Methylation Analysis - p. 109 4. 7.4. Single-Cell DNA Methylation Analysis - p. 126 5. 7.5. Conclusions - p. 127 6. Chapter 8. Perspectives for Future DNA Sequencing Techniques and Applications - p. 141 7. Chapter 9. Advanced Personal Genome Sequencing as the Ultimate Diagnostic Test - p. 155 8. Chapter 10. Application of Padlock and Selector Probes in Molecular Medicine - p. 173 9. 10.1. Introduction - p. 173 10. 10.2. Padlock and Selector Probes - p. 173 11. 10.3. Application of Padlock and Molecular Inversion Probes for Genotyping - p. 176 12. 10.4. Biosensor Approaches Based on Rolling Circle–Amplified Padlock Probes - p. 177 13. 10.5. Application of Padlock Probes for Infectious Disease Diagnostics - p. 179 14. 10.6. Targeted Multiplex Copy Number Variation Analysis Using Selector Probes - p. 182 15. 10.7. High-Throughput Targeted Sequencing Using Selectors and Gap-Fill Padlock Probes - p. 182 16. 10.8. In Situ Nucleic Acid Detection Using Padlock Probes - p. 184 17. 10.9. Automation and Miniaturization of Padlock Probe/Rolling Circle Amplification Assays - p. 189 18. 10.10. Conclusions - p. 190 19. Chapter 11. Advances in Microfluidics and Lab-on-a-Chip Technologies - p. 197 20. Chapter 12. Protein Diagnostics by Proximity Ligation: Combining Multiple Recognition and DNA Amplification for Improved Protein Analyses - p. 219 21. Chapter 13. Application of Proteomics to Medical Diagnostics - p. 233 22. Chapter 14. Molecular Cytogenetics in Molecular Diagnostics - p. 249 23. Chapter 15. Cytogenomics of Solid Tumors by Next-Generation Sequencing: A Clinical Perspective - p. 273 24. Chapter 16. Pharmacogenomics in Clinical Care and Drug Discovery - p. 281 25. 16.1. Introduction - p. 281 26. 16.2. Pharmacogenetics Versus Pharmacogenomics - p. 281 27. 16.3. History of Pharmacogenomics - p. 282 28. 16.4. Analytical Methods in Pharmacogenomics - p. 283 29. 16.5. Pharmacogenomics in Clinical Settings - p. 283 30. 16.6. Population Differences in Pharmacogenomics - p. 287 31. 16.7. Complex Phenotypes - p. 288 32. 16.8. Pharmacogenomics and Regulatory Agencies - p. 289 33. 16.9. Pharmacogenomics in Drug Development - p. 290 34. 16.10. Useful Resources in Pharmacogenomics - p. 292 35. 16.11. New Trends in Pharmacogenomics - p. 292 36. 16.12. Ethical Implications - p. 294 37. 16.13. Public Health Pharmacogenomics - p. 295 38. 16.14. Conclusions and Future Perspectives - p. 296 39. Chapter 17. Nutrigenomics: Integrating Genomic Approaches Into Nutrition Research - p. 305 40. 17.1. Introduction - p. 305 41. 17.2. Nature of Genetic Variation - p. 306 42. 17.3. Nutritional Epidemiology - p. 311 43. 17.4. Experimental Models - p. 312 44. 17.5. Defining the Phenotype - p. 315 45. 17.6. Integrating Complex Data Sets: Data Management, Bioinformatics, and Statistics - p. 320 46. 17.7. Conclusions - p. 321 47. Chapter 18. DNA Microarrays and Genetic Testing - p. 327 48. Chapter 19. Bioinformatics Tools for Data Analysis - p. 339 49. Chapter 20. Genomic Databases: Emerging Tools for Molecular Diagnostics - p. 353 50. Chapter 21. Molecular Diagnostic Applications in Forensic Science - p. 371 51. Chapter 22. New Perspectives in Mass Disaster Victim Identification Assisted by DNA Typing and Forensic Genomics - p. 395 52. Chapter 23. Preimplantation Genetic Diagnosis - p. 407 53. Chapter 24. Noninvasive Cell-Free DNA Prenatal Testing for Fetal Aneuploidy in Maternal Blood - p. 423 54. Chapter 25. Genetic Testing and Psychology - p. 445 55. Chapter 26. Genomic Medicine in Developing Countries and Resource-Limited Environments - p. 459 56. Chapter 27. Public Understanding of Genetic Testing and Obstacles to Genetics Literacy - p. 469 57. Chapter 28. Safety and the Biorepository - p. 479 58. Chapter 29. Quality Assurance in Genetic Laboratories - p. 493 59. Index - p. 501
