Advances in Molecular Pathology is an annual review publication that covers the current practices and latest developments in the field of Molecular Pathology. Each issue is divided into sections for comprehensive coverage of all subspecialty areas within molecular pathology, including, Genetics, Hematopathology, Infectious Disease, Pharmacogenomics, Informatics, Solid Tumors, and special topics on COVID-19. The Editor-in-Chief of the publication is Dr. Gregory Tsongalis, a leading expert in the field. Topics covered this year include but are not limited to: Phenotype Association and Variant Pathogenicity Prediction Tools in Genomic Analysis; The application of noninvasive prenatal screening to detect copy number variations; Next generation cytogenomics using optical mapping; Review of molecular in APL; NGS for MRD in acute leukemia; Review of emerging technologies as they pertain to infectious disease testing; Germline genetic variants that predict drug response; Nutrigenomics; PGx of hypertension; Genomic data for blood typing, specifically both through NGS and arrays; Preanalytic Variables and Tissue Stewardship for Reliable Next-Generation Sequencing (NGS) Clinical Analysis; and Cell-free nucleic acids in cancer: Current approaches, challenges, and future directions.
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Table of Contents
Current Tools, Databases, and Resources for Phenotype and Variant Analysis of Clinical Exome SequencingApplications of Noninvasive Prenatal Testing for Subchromosomal Copy Number Variations Using Cell-Free DNA
Applications of Optical Genome Mapping in Next-Generation Cytogenetics and Genomics
Diagnosis of Variant Translocations in Acute Promyelocytic Leukemia
Next-Generation Sequencing for Measurable Residual Disease Assessment in Acute Leukemia
Molecular Profile of BCR-ABL1 Negative Myeloproliferative Neoplasms and Its Impact on Prognosis and Management
Engineering Consideration for Emerging Essential Nucleic Acid Tests for Point-of>Care Diagnostics
The Importance of Use of Genetics to Guide Hypertension Therapy: Using b>Blockade as an Example
Emerging Molecular Diagnostic Methods for Prosthetic Joint Infections
The Role of the Human Gutome on Chronic Disease: A Review of the Microbiome and Nutrigenomics
Blood Group Genotyping
Artificial Intelligence in Anatomic Pathology
Cell-free Nucleic Acids in Cancer: Current Approaches, Challenges, and Future Directions
Tumor Mutational Burden Calculation and Microsatellite Instability Detection in Clinical Next-Generation Sequencing Assays
Operationalizing Genomic Medicine: Laboratory Practice Considerations Beyond the Assay
A PENNdemic Year in Review
Review of SARS-CoV-2 Antigen and Antibody Testing in Diagnosis and Community Surveillance
The Genomic Landscape of Severe Acute Respiratory Syndrome Coronavirus 2: Surveillance of Variants of Concern