The Journal of Molecular Diagnostics
- Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in Australia
- Table of Contents
- Editorial Board
- Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North China
- Dideoxy sequencing enhances detection of KIT mutations in GISTs initially evaluated by NGS hotspot panels
- Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
- Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 Kit
- Enhanced Detection of EGFRvIII in Tumors: A Comparative Study of Split Read and Read Depth-Based DNA Sequencing Approaches
- Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing
- Highly Sensitive Detection of Donor Chimerism by Next-Generation Sequencing
- Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecological Mesenchymal Tumors
- Prediction of lung metastasis in breast cancer patients using machine learning classifiers
- Functional analysis of four splice site variants, including a novel variant, on antigen expression and ABO subgroup formation
- A More Clinically Effective Long-read Sequencing-based Approach for Comprehensive Analysis of Spinal Muscular Atrophy
- Updates on the clinical epidemiology of HIV-1 group O strains in Cameroon and potential implications on diagnosis and treatment strategies
- Enhanced Comprehension of the Pathogenicity of Splicing Variants
- A Targeted LC-MS/MS–Based Quantitative Assay for Detecting Plasma Factor XIII A/B Subunit Deficiency
- Clinical Performance of Tissue- and Plasma-Based Diagnostic Assays in Identifying Homologous Recombination Repair Gene Alterations in Patients with Metastatic Castration-Resistant Prostate Cancer following Treatment with Niraparib with Abiraterone Acetate Plus Prednisone
- Clinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis
- Comparative Analysis of TP53-Mutated Tumor DNA in Saliva and Plasma of Patients with Head and Neck Squamous Cell Carcinoma
- Clinical Validation of Duoseq, a Novel Assay for Clinical DNA and RNA Sequencing
- Yield of an Active Candida auris Molecular Surveillance Program at a Tertiary Care Cancer Center
- Bridge Capture Permits Cost-Efficient, Rapid, and Sensitive Molecular Precision Diagnostics
- Harmonization of Reporting for Detection of ALK Genetic Alterations in Neuroblastoma
- Preanalytical Histology Review Improves POLE Mutation Detection in Endometrial Carcinomas
- Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data
- Validation of a Modular Gene Expression Assay for Risk Stratification and Subtyping Lymphomas
- Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies
- Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay
- Analysis of the Fragmentation and Integrity of Urine Cell-Free DNA as a Diagnostic and Staging Biomarker for Bladder Cancer
- Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers
- Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report
- Analytical Validation of a Pan-Cancer Next-Generation Sequencing Assay for In-House Liquid Biopsy Testing
- Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test
- TAG-CLL, a Novel Tagmentation-Based Approach to Somatic Hypermutation Testing of IGHV Reveals the Weak Points of Both Sanger and Next-Generation Sequencing Methods
- Performance Evaluation of the Aptima hrHPV Nucleic Acid Amplification and Papanicolaou Co-Testing in Cervical Cancer Screening
- Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay
- Analytical validation of a 37-gene next generation sequencing panel for myeloid malignancies and review of initial findings, including reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes using the 2022 WHO/ICC/ELN guidelines
- Editorial Board
- Table of Contents
- Comprehensive genomic analysis identifies a diverse landscape of sideroblastic and non-sideroblastic iron related anemias with novel and pathogenic variants in an iron deficient endemic setting
- Enhancing Trypanosomatids Identification and Genotyping with Oxford Nanopore Sequencing: Development and Validation of an 18S rRNAs Amplicon-Based Method.
- Significance Associated with Phenotype (SAP) Score Aids in Variant Prioritization for Exome Sequencing Analysis
- Extraction of Cell-Free DNA
- Engraftment and Measurable Residual Disease Monitoring after Hematopoietic Stem Cell Transplantation
- Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel
- The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer
- Next-Generation Sequencing Trends among Adult Patients with Select Advanced Tumor Types
- Defining an Optimized Workflow for Enriching and Analyzing Residual Tumor Populations Using Intracellular Markers
- Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing
- 2024 Updates to American Medical Association’s Current Procedural Terminology Codes for Oncology Panel Testing
- Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas
- Detection of Constitutional Structural Variants by Optical Genome Mapping
- Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk
- Correction
- Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel
- Quantification of Measurable Residual Disease Detection by Next-Generation Sequencing–Based Clonality Testing in B-Cell and Plasma Cell Neoplasms
- Comparing the Diagnostic Performance of Quantitative PCR, Digital Droplet PCR, and Next-Generation Sequencing Liquid Biopsies for Human Papillomavirus–Associated Cancers
- Slice Testing—Considerations from Ordering to Reporting
- Operationalizing Quality Assurance for Clinical Illumina Somatic Next-Generation Sequencing Pipelines
- MLH1 Promotor Hypermethylation in Colorectal and Endometrial Carcinomas from Patients with Lynch Syndrome
- Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions
- Variant Classification Discordance
- An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors
- FindDNAFusion
- Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions
