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This inaugural issue of Advances in Molecular Pathology will provide a comprehensive review of the most current practices, trends, and developments in the field of Molecular Pathology. Publishing on an annual basis, the volume will be divided into 7 sections: Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of Dartmouth University, a team of experienced pathologists from institutions across the country oversee annual topic and expert author selection. Topics discussed in this volume include, but are not limited to: whole genome sequencing in critically ill children, bioinformatics in clinical genomic sequencing, comprehensive monitoring of patients with chronic myeloid leukemia, genetic biomarkers in the biology and clinical workup of chronic lymphocytic leukemia, metagenomics in infectious disease, point of care molecular testing, pharmacogenomics in oncology, clinical uses of panel testing vs. single gene testing, large scale data sharing initiatives in genomic oncology, clinical NGS assays for solid tumors emerging concepts in liquid biopsy the cell line and tissue misidentification problem, and cell line detective work.

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. xv 8. Genetics - p. xii 9. Coming up to Speed on Whole Genome Sequencing in Critically Ill Children - p. 1 10. Bioinformatics in Clinical Genomic Sequencing - p. 9 11. The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders - p. 27 12. Hematopathology - p. 36 13. The Clinical and Laboratory Features of Clinical Hematopoiesis of Indeterminate Potential - p. 37 14. Comprehensive Monitoring of Patients with Chronic Myeloid Leukemia - p. 43 15. Genomic Biomarkers in Pathogenesis and Clinical Care of Chronic Lymphocytic Leukemia - p. 51 16. Infectious Disease - p. 64 17. Molecular Monitoring of Viral Infections - p. 65 18. The Current State of Metagenomics in Infectious Disease - p. 81 19. Replacement of Culture with Molecular Testing for Diagnosis Infectious Diseases - p. 91 20. Syndromic and Point-of-Care Molecular Testing - p. 97 21. Pharmacogenomics - p. 113 22. Applications of Pharmacogenomics in Oncology - p. 115 23. Building Evidence for Clinical Use of Pharmacogenomics and Reimbursement for Testing - p. 125 24. Informatics - p. 134 25. Large-Scale Data Sharing Initiatives in Genomic Oncology - p. 135 26. Advances in Next-Generation Sequencing Bioinformatics for Clinical Diagnostics: Taking Precision Oncology to the Next Level - p. 149 27. Solid tumors - p. 166 28. Clinical Next-Generation Sequencing Assays for Solid Tumors: Current Practices, Technological Advances, and Challenges in Clinical Practice - p. 167 29. Emerging Concepts in Liquid Biopsy - p. 183 30. Therapy Implications of DNA Mismatch Repair Deficiency, Microsatellite Instability, and Tumor Mutation Burden - p. 193 31. Identity/HLA - p. 208 32. Tackling the Human Cell Line and Tissue Misidentification Problem Is Needed for Reproducible Biomedical Research - p. 209 33. Cell Line Detective Work: Basic Principles and Molecular Applications - p. 229 34. Challenges and Advances in the Development of Cell Lines and Xenografts - p. 239 35. Historical and Current Methods for Detecting Interspecies and Intraspecies Cell Mixtures and Thereby Assuring Cell Line Purity - p. 253

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This inaugural issue of Advances in Molecular Pathology will provide a comprehensive review of the most current practices, trends, and developments in the field of Molecular Pathology. Publishing on an annual basis, the volume will be divided into 7 sections: Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid tumors, and Identity/HLA. Led by Dr. Gregory Tsongalis of Dartmouth University, a team of experienced pathologists from institutions across the country oversee annual topic and expert author selection. Topics discussed in this volume include, but are not limited to: whole genome sequencing in critically ill children, bioinformatics in clinical genomic sequencing, comprehensive monitoring of patients with chronic myeloid leukemia, genetic biomarkers in the biology and clinical workup of chronic lymphocytic leukemia, metagenomics in infectious disease, point of care molecular testing, pharmacogenomics in oncology, clinical uses of panel testing vs. single gene testing, large scale data sharing initiatives in genomic oncology, clinical NGS assays for solid tumors emerging concepts in liquid biopsy the cell line and tissue misidentification problem, and cell line detective work.

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. xv 8. Genetics - p. xii 9. Coming up to Speed on Whole Genome Sequencing in Critically Ill Children - p. 1 10. Bioinformatics in Clinical Genomic Sequencing - p. 9 11. The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders - p. 27 12. Hematopathology - p. 36 13. The Clinical and Laboratory Features of Clinical Hematopoiesis of Indeterminate Potential - p. 37 14. Comprehensive Monitoring of Patients with Chronic Myeloid Leukemia - p. 43 15. Genomic Biomarkers in Pathogenesis and Clinical Care of Chronic Lymphocytic Leukemia - p. 51 16. Infectious Disease - p. 64 17. Molecular Monitoring of Viral Infections - p. 65 18. The Current State of Metagenomics in Infectious Disease - p. 81 19. Replacement of Culture with Molecular Testing for Diagnosis Infectious Diseases - p. 91 20. Syndromic and Point-of-Care Molecular Testing - p. 97 21. Pharmacogenomics - p. 113 22. Applications of Pharmacogenomics in Oncology - p. 115 23. Building Evidence for Clinical Use of Pharmacogenomics and Reimbursement for Testing - p. 125 24. Informatics - p. 134 25. Large-Scale Data Sharing Initiatives in Genomic Oncology - p. 135 26. Advances in Next-Generation Sequencing Bioinformatics for Clinical Diagnostics: Taking Precision Oncology to the Next Level - p. 149 27. Solid tumors - p. 166 28. Clinical Next-Generation Sequencing Assays for Solid Tumors: Current Practices, Technological Advances, and Challenges in Clinical Practice - p. 167 29. Emerging Concepts in Liquid Biopsy - p. 183 30. Therapy Implications of DNA Mismatch Repair Deficiency, Microsatellite Instability, and Tumor Mutation Burden - p. 193 31. Identity/HLA - p. 208 32. Tackling the Human Cell Line and Tissue Misidentification Problem Is Needed for Reproducible Biomedical Research - p. 209 33. Cell Line Detective Work: Basic Principles and Molecular Applications - p. 229 34. Challenges and Advances in the Development of Cell Lines and Xenografts - p. 239 35. Historical and Current Methods for Detecting Interspecies and Intraspecies Cell Mixtures and Thereby Assuring Cell Line Purity - p. 253

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