Journal of Molecular Diagnostics

Papers
(The median citation count of Journal of Molecular Diagnostics is 1. 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 2021-10-01 to 2025-10-01.)
ArticleCitations
Instructions to Authors65
Editorial Board61
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance54
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples50
Evaluating Discordant Somatic Calls Across Mutation Discovery Approaches to Minimize False-Negative Drug-Resistant Findings44
Morphological Bone Score as a Predictive Tool for Molecular Profiling Success43
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA42
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY42
Correction41
Editorial Board40
Neurotrophin Receptor Kinase38
Next Generation Sequencing-based T-cell receptor gene rearrangement analysis in nodal T follicular helper cell lymphoma, a comparison with the EuroClonality/BIOMED-2 assay34
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors32
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens30
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 Hyperphenylalaninemia29
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection29
Table of Contents28
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 Cycle28
Editorial Board28
miRNAs as Molecular Biomarkers for Prostate Cancer28
The Molecular Genetic Pathology Fellowship Curriculum28
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers27
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors26
Editorial Board25
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease25
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls24
Analytical and Clinical Evaluation of the AltoStar Adenovirus PCR Kit 1.5 and the AltoStar Automation System AM16 for Adenovirus Detection in Plasma and Stool Samples24
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay23
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 Diagnostic23
Table of Contents23
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample23
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria22
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead22
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions22
DNA Methylation-Based Classification of Small B-Cell Lymphomas22
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent21
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions21
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting21
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier20
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data20
Editorial Board19
Author Index19
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples19
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol19
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex19
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms18
Author Index18
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space18
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs18
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma18
Table of Contents18
Table of Contents18
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions18
Scientific Integrity Policy17
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer17
Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets17
Hearing Impairment with Monoallelic GJB2 Variants16
Molecular Diagnosis of Toxoplasmosis15
A Mass Spectrometry–Based Multiplexed Targeted Assay for Detection of Hemoglobinopathies from Dried Blood Spots15
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism15
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing14
FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity14
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence14
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory14
PirePred14
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel14
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay13
Clinical Validation of a Noninvasive Multi-Omics Method for Multicancer Early Detection in Retrospective and Prospective Cohorts13
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia13
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA13
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer13
Scientific Integrity Policy13
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
Instructions to Authors13
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor12
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms12
Celebrating 30 Years at the Heart of Precision Medicine12
Instructions to Authors12
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates12
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts12
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load12
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System12
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders12
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region12
Evaluation of Atypical Fluorescence in Situ Hybridization Findings by RNA Sequencing12
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing12
Table of Contents11
Table of Contents11
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability11
Elements in Maintaining a Driving Force11
Editorial Board11
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies11
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
Author Index11
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes11
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes11
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors10
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing10
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer10
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
Development of a Body of Knowledge for the Clinical Bioinformatician10
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test10
Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay10
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions10
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
Table of Contents9
Updates and Initiatives from The Journal of Molecular Diagnostics9
Table of Contents9
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma9
Table of Contents9
Editorial Board9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue9
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts9
In Silico Approaches to Proficiency Testing9
Reviewer Acknowledgment9
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing8
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue8
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers8
Microcosting Study of Genomic Profiling for Precision Cancer Medicine8
Table of Contents8
Editorial Board8
Smart Nonuniformity for Calibrating Sequencing Depth of a Targeted Gene Panel to Simultaneously Detect Somatic and Germline Variants8
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms8
Quantitative Off-Target Detection of Epstein-Barr Virus–Derived DNA in Routine Molecular Profiling of Hematopoietic Neoplasms by Panel-Based Hybrid-Capture Next-Generation Sequencing8
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor8
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia8
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia8
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows8
Leading in a Clinical Molecular Laboratory7
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory7
Mutational Signatures in 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
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing7
Informatics Powering Data to Shape the Future of Molecular Pathology7
Table of Contents7
Developing Consensus for a More Provider-Friendly Next Generation Sequencing Molecular Biomarker Report: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of Amer7
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment7
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk7
Molecular Testing in Breast Cancer7
Correction7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species7
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay7
Editorial Board6
CANTRK6
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness6
Clinical Bioinformatician Body of Knowledge—Clinical Laboratory Regulation and Data Security Core6
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics6
CYP3A4 and CYP3A5 Genotyping Recommendations6
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia6
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
The Era of Molecular Hematopathology6
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions6
Editorial Board6
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer6
Disclosure Statement6
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden6
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients5
Corrections5
EarlyTect BCD, a Streamlined PENK Methylation Test in Urine DNA, Effectively Detects Bladder Cancer in Patients with Hematuria5
Analytical Validation of a Computational Method for Pharmacogenetic Genotyping from Clinical Whole Exome Sequencing5
An Educational Assessment of Evidence Used for Variant Classification5
Author Index5
Abstracts of the AMP Europe 2024 Congress5
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
Circulating Tumor DNA5
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism5
Comprehensive Analysis of Spinal Muscular Atrophy5
Path to Health Equity and Improved Outcomes through Inclusive Sex and Gender Data Collection in Genomic Testing5
Automated Detection of Arm-Level Alterations for Individual Cancer Patients in the Clinical Setting5
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases5
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing5
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia5
Analytical Performance of the NCI-myeloMATCH Assay5
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology5
Editorial Board5
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas5
Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application5
Automated Pharmacogenomic Reports for Clinical Genome Sequencing5
FindDNAFusion5
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing5
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test5
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort5
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer4
Table of Contents4
From Expert Knowledge to Validation Resources4
Universal Digital High-Resolution Melt Analysis for the Diagnosis of Bacteremia4
MET Exon 14 Skipping Mutations4
Authors' Reply4
Editorial Board4
Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-approach Test4
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation4
Highly Sensitive Detection Method of CXCR4 Tumor Hotspot Mutations by Drop-Off Droplet Digital PCR in Patients with IgM Monoclonal Gammopathies4
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel4
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes4
Table of Contents4
Accurate Quantification of T Cells in Copy Number Stable and Unstable DNA Samples Using Multiplex Digital PCR4
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay4
Instructions to Authors4
Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection4
Detection of Constitutional Structural Variants by Optical Genome Mapping4
Table of Contents4
A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer4
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms4
Characterization of Reference Materials for TPMT and NUDT153
A New Era for Molecular Diagnostics3
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 Approach3
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing3
Multiplex PCR Assays for Identifying all Major Severe Acute Respiratory Syndrome Coronavirus 2 Variants3
Title Page3
Table of Contents3
Toward Cytogenomics3
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
Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors3
Clinical Validation of Companion Diagnostics for the Selection of Patients with Non–Small Cell Lung Cancer Tumors Harboring Epidermal Growth Factor Receptor Exon 20 Insertion Mutations for Treatment w3
Highly Selective, Single-Tube Colorimetric Assay for Detection of Multiple Mutations in the Epidermal Growth Factor Receptor Gene3
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield3
Editorial Board3
SILO3
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes3
Accuracy of Xpert Carba-R Assay for the Diagnosis of Carbapenemase-Producing Organisms from Rectal Swabs and Clinical Isolates3
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
Targeted Genotyping in Clinical Pharmacogenomics3
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA3
Development of Multiplex Drop-Off Digital PCR Assays for Hotspot Mutation Detection of KRAS, NRAS, BRAF, and PIK3CA in the Plasma of Colorectal Cancer Patients3
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis3
Characterization of Reference Materials for DPYD3
Development of Cooperative Primer-Based Real-Time PCR Assays for the Detection of Plasmodium malariae and Plasmodium ovale3
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework3
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing3
Development of an Optimized Tetra-Amplification Refractory Mutation System PCR for Detection of 12 Pathogenic Familial Hypercholesterolemia Variants in the Asian Population3
DNA Reference Reagents for Genotyping RH Variants3
Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays3
Digital PCR for Minimal Residual Disease Quantitation Using Immunoglobulin/T-Cell Receptor Gene Rearrangements in Acute Lymphoblastic Leukemia3
Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers3
Clonal Characterization and Somatic Hypermutation Assessment by Next-Generation Sequencing in Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma3
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