Advances in Molecular Pathology reviews the year’s most important findings and updates within the field in order to provide practitioners with the current clinical information they need to improve patient outcomes. A distinguished editorial board identifies key areas of major progress and controversy and invites preeminent specialists to contribute original articles devoted to these topics. These insightful overviews in molecular pathology inform and enhance clinical practice by bringing concepts to a clinical level and exploring their everyday impact on patient care.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Editorial Board - p. iii 6. Contributors - p. v 7. Preface - p. xvii 8. Genetics - p. xvii 9. Toward Accessible Reproductive Genetic Carrier Screening: Considerations for Implementation at Scale - p. 1 10. Pharmacogenomics - p. 14 11. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency - p. 15 12. Education of Future Pharmacogenomics Laboratory Directors - p. 33 13. Considerations in Clinical Laboratory Development of Pharmacogenomic Testing - p. 43 14. Hematopathology - p. 52 15. Advances in Structural Variant Detection in Hematolymphoid Malignancies: Optical Genome Mapping - p. 53 16. Recent Advances in the Molecular Pathogenesis and Diagnosis of Chronic Myelomonocytic Leukemia - p. 63 17. Molecular Profiling of Small Mature B Cell Lymphomas; New Insights on Diagnosis and Treatment - p. 77 18. Infectious Disease - p. 87 19. Advances in Self-collection/Self-testing for Sexually Transmitted Infections and Implications for Health Equity - p. 89 20. Implementation, Optimization, and Stewardship of Advanced Molecular Testing for Infectious Diseases - p. 99 21. Informatics - p. 111 22. Genomics Clinical Decision Support with Fast Healthcare Interoperability Resources Genomics Operations - p. 113 23. Is Picture Archiving and Communication System a Model for Genomics? - p. 123 24. Fast Healthcare Interoperability Resource Genomics and Polygenic Risk Scores - p. 131 25. Artificial Intelligence Applications in Genomics - p. 145 26. Hot Topics - p. 154 27. A Concise Overview of Circulating Tumor DNA Detection for Solid Tumors - p. 155 28. Detection of Germline Structural Variants Using Short-Read Whole-Genome Sequencing - p. 165 29. Sequencing Platforms - p. 175
Advances in Molecular Pathology reviews the year’s most important findings and updates within the field in order to provide practitioners with the current clinical information they need to improve patient outcomes. A distinguished editorial board identifies key areas of major progress and controversy and invites preeminent specialists to contribute original articles devoted to these topics. These insightful overviews in molecular pathology inform and enhance clinical practice by bringing concepts to a clinical level and exploring their everyday impact on patient care.
1. Cover image - p. i 2. Title page - p. i 3. Table of Contents - p. i 4. Copyright - p. ii 5. Editorial Board - p. iii 6. Contributors - p. v 7. Preface - p. xvii 8. Genetics - p. xvii 9. Toward Accessible Reproductive Genetic Carrier Screening: Considerations for Implementation at Scale - p. 1 10. Pharmacogenomics - p. 14 11. Review of Neurologic and Developmental Conditions Associated with Pediatric Dihydropyrimidine Dehydrogenase Deficiency - p. 15 12. Education of Future Pharmacogenomics Laboratory Directors - p. 33 13. Considerations in Clinical Laboratory Development of Pharmacogenomic Testing - p. 43 14. Hematopathology - p. 52 15. Advances in Structural Variant Detection in Hematolymphoid Malignancies: Optical Genome Mapping - p. 53 16. Recent Advances in the Molecular Pathogenesis and Diagnosis of Chronic Myelomonocytic Leukemia - p. 63 17. Molecular Profiling of Small Mature B Cell Lymphomas; New Insights on Diagnosis and Treatment - p. 77 18. Infectious Disease - p. 87 19. Advances in Self-collection/Self-testing for Sexually Transmitted Infections and Implications for Health Equity - p. 89 20. Implementation, Optimization, and Stewardship of Advanced Molecular Testing for Infectious Diseases - p. 99 21. Informatics - p. 111 22. Genomics Clinical Decision Support with Fast Healthcare Interoperability Resources Genomics Operations - p. 113 23. Is Picture Archiving and Communication System a Model for Genomics? - p. 123 24. Fast Healthcare Interoperability Resource Genomics and Polygenic Risk Scores - p. 131 25. Artificial Intelligence Applications in Genomics - p. 145 26. Hot Topics - p. 154 27. A Concise Overview of Circulating Tumor DNA Detection for Solid Tumors - p. 155 28. Detection of Germline Structural Variants Using Short-Read Whole-Genome Sequencing - p. 165 29. Sequencing Platforms - p. 175
