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The Journal of Molecular Diagnostics
- Table of Contents
- Editorial Board
- Batch Effects in Tumor-Only NGS Panel Sequencing and Implications for CNV Detection
- Batch Effects in Tumor-Only Next-Generation Sequencing Panel Sequencing and Implications for Copy Number Variant Detection
- Highly Accurate Detection of Circulating Tumor DNA for Monitoring Minimal Residual Disease in Solid Tumors: Analytical and Clinical Validation of the Haystack MRD Assay
- Diagnostic Performance of a Multiplex Circulating Tumor DNA Assay for Lung Cancer Detection
- Utilization of Next-Generation Sequencing (NGS) in Unexplained Cytopenia: Development and Validation of a Predictive Model to Guide Selective Use of Myeloid NGS
- Utilization of Next-Generation Sequencing (NGS) in Unexplained Cytopenia
- Highly Accurate Detection of Circulating Tumor DNA for Monitoring Minimal Residual Disease in Solid Tumors
- Diagnostic Performance of a Multiplex Circulating Tumor DNA Assay for Lung Cancer Detection
- Table of Contents
- Editorial Board
- Modular RNA-Sequencing Analytics for Exploratory Biomarker Discovery Using Public Data
- Modular RNA-seq Analytics for Exploratory Biomarker Discovery using Public Data
- Predicting Recurrence of Stage IA Lung Adenocarcinoma Using Circulating Tumor Cell–Free DNA Whole-Genome Mutational Signatures
- Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing
- Laboratory Considerations for Reproductive Genetic Carrier Screening
- Laboratory Considerations for Reproductive Genetic Carrier Screening: Experiences from Mackenzie’s Mission
- Analytical Validation of a Plasma-Based Rapid Liquid Biopsy Assay Using Next-Generation Sequencing
- Predicting recurrence of Stage IA lung adenocarcinoma using ctDNA whole genome mutational signatures
- Table of Contents
- Editorial Board
- Table of Contents
- Editorial Board
- Molecular basis of sarcomeric variants and the modifying role of non-sarcomeric genes in Sudden unexplained nocturnal death syndrome (SUNDS)
- Non-Invasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified qPCR
- Molecular Basis of Sarcomeric Variants and the Modifying Role of Non-sarcomeric Genes in Sudden Unexplained Nocturnal Death Syndrome (SUNDS)
- Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry
- Noninvasive Detection of Bladder Cancer via Urinary DNA Mutation and Methylation Profiling Using Modified Real-Time Quantitative PCR
- The Critical Role of Preanalytical Factors in Validating Cytology Specimens for Hybrid-Capture Next-Generation Sequencing
- The Critical Role of Preanalytical Factors in Validating Cytology Specimens for Hybrid-Capture Next-Generation Sequencing: From Smear to Sequence
- Simultaneous detection of SMN1, SMN2, NAIP, H4F5, GTF2H2 copy number and SMN1 loss-of-function variants for SMA by MALDI-TOF mass spectrometry
- Validation of a Semiquantitative Real-Time PCR Assay for Malaria Diagnosis and Treatment Monitoring
- Validation of a Semi-Quantitative Real-Time PCR Assay for Malaria Diagnosis and Treatment Monitoring
- Next-Generation Sequencing Reporting Practices among the Genomics Organization for Academic Laboratories Institutions
- Next-generation sequencing reporting practices among the Genomics Organization for Academic Laboratories (GOAL) institutions: Current state and opportunities for harmonization
- Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants
- Performance Evaluation of a Custom Myeloid Assay on the Genexus Integrated Sequencer from a Wide Spectrum of Clinical Variants
- Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a Real-Time Quantitative PCR–Based Assay
- Segmental Copy Number Variant Detection Using an Amplicon-Based Next-Generation Sequencing Panel for Integrated Glioma Classification
- Epigenetic CD4+ T-Cell Quantification from Dried Blood Spots Using a Real-Time Quantitative PCR–Based Assay
- Segmental Copy Number Variant Detection Using an Amplicon-Based Next-Generation Sequencing Panel for Integrated Glioma Classification
- Table of Contents
- Editorial Board
- Endonuclease-Assisted Selective Exponential Amplification (ESEA) for Ultra-Sensitive Enrichment and Detection of Low-abundance Mutant Alleles in Lung Cancer
- Clinical validation of the Roche cobas and cobas 4800 HPV tests on self-collected vaginal dry swabs vs practitioner-collected cervical specimens using the VALHUDES Protocol
- Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared to Ion Torrent Analysis
- Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-based PCR Assay
- Validation of NTRK Fusion Detection Using an Ultrarapid, Fully Automated Cartridge-Based PCR Assay
- Long-Read Nanopore Sequencing Enhances BRCA1/2 Variant Detection Compared with Ion Torrent Analysis
- Endonuclease-Assisted Selective Exponential Amplification for Ultrasensitive Enrichment and Detection of Low-Abundance Mutant Alleles in Lung Cancer
- Clinical Validation of the Roche cobas and cobas 4800 Human Papillomavirus Tests on Self-Collected Vaginal Dry Swabs versus Practitioner-Collected Cervical Specimens Using the VALHUDES Protocol
- Author Index
- Abstracts of the AMP Europe 2026 Congress
- Genetic Landscape of Acute Leukemia of Ambiguous Lineage
- Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes
- Pitfalls in Detecting MET Exon 14 Skipping Variants by DNA- and RNA-Based Next-Generation Sequencing Technologies in a Large Real-World Cohort and Results of the First Multinational External Quality Assessment Schemes
- Genetic Landscape of Acute Leukemia of Ambiguous Lineage
- Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing
- Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing
- Rapid On-Site Next-Generation Sequencing
- Rapid On-Site Next-Generation Sequencing
- Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus
- Optimization of Pathologists’ Roles in Molecular Biomarker Testing in Metastatic Breast Cancer
- Editorial Board
- Table of Contents
- Authors’ Reply
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
- Table of Contents
- Editorial Board
- Authors’ Reply
- Digital PCR for Absolute Quantification of Adenoviruses
- Digital PCR for Absolute Quantification of Adenoviruses
- Why Non-ASCII Unicode Characters Should Not Be Used in the Human Genome Variation Society Nomenclature
- Table of Contents
- Editorial Board
- Authors’ Reply
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death
- Validation of MyHPVscore
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
- Validation of MyHPVscore
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
- Utility of a Multiplex Molecular Respiratory Pathogen Panel on Clinical Management of Children in the Pediatric Emergency Department
- Comprehensive Pathologic and Genetic Investigation of Four Young Adults with a Short QT Interval and Sudden Unexpected Death
- Validation of MyHPVscore
- Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families
- Table of Contents
- Editorial Board
- Evaluation of Chimerism Testing by Next-Generation Sequencing Using Insertion/Deletion Markers
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (Oncology Logic-Informed Variant Evaluator)
- Evaluation of chimerism testing by next generation sequencing using indel markers: Analytical validation and examples of clinical utilization
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (OLIVE)
- Evaluation of Chimerism Testing by Next-Generation Sequencing Using Insertion/Deletion Markers
- Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (Oncology Logic-Informed Variant Evaluator)
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
- Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
- Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation across Multiple Genes
