Journal of Molecular Diagnostics

Papers
(The median citation count of Journal of Molecular Diagnostics is 2. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-08-01 to 2025-08-01.)
ArticleCitations
Editorial Board125
Instructions to Authors81
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors61
Correction57
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY53
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA43
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance42
Editorial Board41
Neurotrophin Receptor Kinase40
Table of Contents40
Editorial Board40
The Molecular Genetic Pathology Fellowship Curriculum39
The Comparison of Two Whole-Genome Amplification Approaches for Noninvasive Preimplantation Genetic Testing (ni-PGT) and the Application Scenario of ni-PGT during the Fresh Cycle37
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings32
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success31
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples30
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients29
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia28
miRNAs as Molecular Biomarkers for Prostate Cancer28
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors27
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens27
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection27
Editorial Board26
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers26
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions26
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting25
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol25
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent25
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria24
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data24
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls22
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment22
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier22
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples22
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead22
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay21
Table of Contents21
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX21
Pan-Tumor Analytical Validation and Osimertinib Clinical Validation in EGFR Mutant Non–Small-Cell Lung Cancer, Supporting the First Next-Generation Sequencing Liquid Biopsy in Vitro Diagnostic20
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample20
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions20
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease20
Author Index19
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma19
DNA Methylation-Based Classification of Small B-Cell Lymphomas19
Table of Contents19
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex19
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer19
Author Index19
Table of Contents18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions18
PirePred18
Hearing Impairment with Monoallelic GJB2 Variants17
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel17
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence17
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space17
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism17
Scientific Integrity Policy17
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing16
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer16
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs16
Molecular Diagnosis of Toxoplasmosis16
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory16
Development and Validation of Signature Sequence–Based PCR for Improved Molecular Diagnosis of Tuberculosis16
Technical Advance, FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity15
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)15
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets15
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA14
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders14
Instructions to Authors14
Scientific Integrity Policy14
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor14
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms14
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load13
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region13
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms13
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts13
Validation of a DNA-Based Next-Generation Sequencing Test for Molecular Diagnostic Variant and Fusion Detection in Formalin-Fixed, Paraffin-Embedded Tissue Specimens and Liquid Biopsy Plasma/Cell-Free13
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts13
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing13
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay13
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates13
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes12
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia12
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing12
In Silico Approaches to Proficiency Testing12
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies12
Elements in Maintaining a Driving Force12
Author Index11
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer11
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System11
Instructions to Authors11
Table of Contents11
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions11
Table of Contents11
Editorial Board11
Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and A11
Celebrating 30 Years at the Heart of Precision Medicine11
Development of a Body of Knowledge for the Clinical Bioinformatician11
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes10
Reviewer Acknowledgment10
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors10
Reverse-Transcription Loop-Mediated Isothermal Amplification Has High Accuracy for Detecting Severe Acute Respiratory Syndrome Coronavirus 2 in Saliva and Nasopharyngeal/Oropharyngeal Swabs from Asymp10
Table of Contents10
Editorial Board10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test10
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference10
Table of Contents10
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability10
A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting10
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection9
Quantitative Off-Target Detection of Epstein-Barr Virus–Derived DNA in Routine Molecular Profiling of Hematopoietic Neoplasms by Panel-Based Hybrid-Capture Next-Generation Sequencing9
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia9
Table of Contents9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues9
Microcosting Study of Genomic Profiling for Precision Cancer Medicine Application from the National Infrastructure for Precision Diagnostics in Norway9
Updates and Initiatives from The Journal of Molecular Diagnostics9
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples9
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing9
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue8
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants8
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay8
Table of Contents8
Editorial Board8
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome8
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia8
Mutational Signatures in Cancer8
Correction7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms7
Table of Contents7
CANTRK7
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia7
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab7
Editorial Board7
Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays7
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory7
Editorial Board7
Molecular Testing in Breast Cancer7
Diagnostic Value and Cost-Effectiveness of Next-Generation Sequencing–Based Testing for Treatment of Patients with Advanced/Metastatic Non-Squamous Non–Small-Cell Lung Cancer in the United States7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment7
Leading in a Clinical Molecular Laboratory7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing7
Editorial Board7
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions7
CYP3A4 and CYP3A5 Genotyping Recommendations7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation7
Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and α-Fetoprotein6
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden6
Analytical Performance of the NCI-myeloMATCH Assay6
The Era of Molecular Hematopathology6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core6
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology6
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing6
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics6
Interlaboratory Harmonization Study and Prospective Evaluation of the PURE–Trypanosoma cruzi–Loop-Mediated Isothermal Amplification Assay for Detecting Parasite DNA in Newborn's Dried Blood Spots6
Editorial Board6
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients6
Abstracts of the AMP Europe 2024 Congress6
Circulating Tumor DNA6
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness6
Disclosure Statement6
Author Index5
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test5
Corrections5
EarlyTect BCD, a Streamlined PENK Methylation Test in Urine DNA, Effectively Detects Bladder Cancer in Patients with Hematuria5
An Educational Assessment of Evidence Used for Variant Classification5
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia5
Editorial Board5
Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application5
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing5
Automated Detection of Arm-Level Alterations for Individual Cancer Patients in the Clinical Setting5
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism5
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia5
Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete5
FindDNAFusion5
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases5
Comprehensive Analysis of Spinal Muscular Atrophy5
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort5
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing5
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation4
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas4
Universal Digital High-Resolution Melt Analysis for the Diagnosis of Bacteremia4
Accurate Quantification of T Cells in Copy Number Stable and Unstable DNA Samples Using Multiplex Digital PCR4
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield4
Characterization of Reference Materials for DPYD4
A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer4
A New Era for Molecular Diagnostics4
Highly Sensitive Detection Method of CXCR4 Tumor Hotspot Mutations by Drop-Off Droplet Digital PCR in Patients with IgM Monoclonal Gammopathies4
Table of Contents4
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes4
Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection4
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel4
Automated Pharmacogenomic Reports for Clinical Genome Sequencing4
Table of Contents4
Table of Contents4
Performance Assessment of the Devyser High-Throughput Sequencing–Based Assay for Chimerism Monitoring in Patients after Allogeneic Hematopoietic Stem Cell Transplantation4
Editorial Board4
PCR-Free Shallow Whole Genome Sequencing for Chromosomal Copy Number Detection from Plasma of Cancer Patients Is an Efficient Alternative to the Conventional PCR-Based Approach4
Characterization of Reference Materials for TPMT and NUDT154
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer4
Development of Cooperative Primer-Based Real-Time PCR Assays for the Detection of Plasmodium malariae and Plasmodium ovale4
MET Exon 14 Skipping Mutations4
Assessment of MYC/PTEN Status by Gene-Protein Assay in Grade Group 2 Prostate Biopsies4
Instructions to Authors4
Path to Health Equity and Improved Outcomes through Inclusive Sex and Gender Data Collection in Genomic Testing4
Detection of Constitutional Structural Variants by Optical Genome Mapping4
Authors' Reply4
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework4
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis4
Highly Selective, Single-Tube Colorimetric Assay for Detection of Multiple Mutations in the Epidermal Growth Factor Receptor Gene4
Table of Contents4
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms4
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay4
Table of Contents3
Table of Contents3
SILO3
Correction3
Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays3
DNA Reference Reagents for Genotyping RH Variants3
Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers3
Digital PCR for Minimal Residual Disease Quantitation Using Immunoglobulin/T-Cell Receptor Gene Rearrangements in Acute Lymphoblastic Leukemia3
Comparing the Diagnostic Performance of Quantitative PCR, Digital Droplet PCR, and Next-Generation Sequencing Liquid Biopsies for Human Papillomavirus–Associated Cancers3
A Highly Sensitive Pan-Cancer Test for Microsatellite Instability3
Development of an Optimized Tetra-Amplification Refractory Mutation System PCR for Detection of 12 Pathogenic Familial Hypercholesterolemia Variants in the Asian Population3
Instructions to Authors3
Targeted Genotyping in Clinical Pharmacogenomics3
Colocalization of Cancer-Associated Biomarkers on Single Extracellular Vesicles for Early Detection of Cancer3
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma3
Toward Cytogenomics3
Deciphering Genomic Complexity of Multiple Myeloma Using Optimized Optical Genome Mapping3
Table of Contents3
Title Page3
The Application of Knowledge Engineering via the Use of a Biomimetic Digital Twin Ecosystem, Phenotype-Driven Variant Analysis, and Exome Sequencing to Understand the Molecular Mechanisms of Disease3
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA3
Clinical Utility and Performance of an Ultrarapid Multiplex RNA-Based Assay for Detection of ALK, ROS1, RET, and NTRK1/2/3 Rearrangements and MET Exon 14 Skipping Alterations3
Accuracy of Xpert Carba-R Assay for the Diagnosis of Carbapenemase-Producing Organisms from Rectal Swabs and Clinical Isolates3
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