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 2021-05-01 to 2025-05-01.)
ArticleCitations
Editorial Board116
Salivary High-Risk Human Papillomavirus (HPV) DNA as a Biomarker for HPV-Driven Head and Neck Cancers75
Deep Intronic PAH Variants Explain Missing Heritability in Hyperphenylalaninemia62
Instructions to Authors59
An Exome Capture-Based RNA-Sequencing Assay for Genome-Wide Identification and Prioritization of Clinically Important Fusions in Pediatric Tumors58
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 Cycle52
Correction49
A Systematic Method to Detect Next-Generation Sequencing–Based Microsatellite Instability in Plasma Cell-Free DNA40
In Vitro Functional Analysis Can Aid Precision Diagnostics of HNF1B-MODY40
A Nonadaptive Combinatorial Group Testing Strategy to Facilitate Health Care Worker Screening during the Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) Outbreak39
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors39
Editorial Board38
Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance38
The Molecular Genetic Pathology Fellowship Curriculum36
Neurotrophin Receptor Kinase36
Editorial Board32
Diagnostic Utility of Gene Fusion Panel to Detect Gene Fusions in Fresh and Formalin-Fixed, Paraffin-Embedded Cancer Specimens31
Evaluating the Clinical Performance of a Dual-Target Stool DNA Test for Colorectal Cancer Detection31
miRNAs as Molecular Biomarkers for Prostate Cancer31
Table of Contents30
Transcriptome Analysis Identifies GATA3-AS1 as a Long Noncoding RNA Associated with Resistance to Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer Patients30
Editorial Board29
Multiple Immunoglobulin κ Gene Rearrangements within a Single Clone Unraveled by Next-Generation Sequencing–Based Clonality Assessment27
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent27
Purity Independent Subtyping of Tumors (PurIST) Pancreatic Cancer Classifier26
The Isothermal Amplification AmpFire Assay for Human Papillomavirus (HPV) Detection and Genotyping in Formalin-Fixed, Paraffin-Embedded Oropharyngeal Cancer Samples26
Evaluation of Sensitive Urine DNA-Based PENK Methylation Test for Detecting Bladder Cancer in Patients with Hematuria25
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease25
DNA Methylation-Based Classification of Small B-Cell Lymphomas24
Droplet Digital PCR for Fast and Accurate Characterization of NF1 Locus Deletions24
Twenty-Five Years of Germline Genetic Testing and What May Lie Ahead23
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
Variant Detection in 3′ Exons of PMS2 Using Exome Sequencing Data23
Rare Variants in RPPH1 Real-Time Quantitative PCR Control Assay Binding Sites Result in Incorrect Copy Number Calls23
Analysis of Clinical Laboratory Detecting Challenging Variants from Exome Sequencing Using Simulated Patient–Parent Trio Sample22
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions21
Validation of a Next-Generation Sequencing–Based T-Cell Receptor Gamma Gene Rearrangement Diagnostic Assay21
Clinical Accuracy of Alinity m HR HPV Assay on Self- versus Clinician-Taken Samples Using the VALHUDES Protocol20
NTRK Gene Fusion Detection in a Pan-Cancer Setting Using the Idylla GeneFusion Assay20
Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX19
KRAS G12C–Mutant Non–Small Cell Lung Cancer19
Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting19
Author Index19
Development and Validation of Signature Sequence–Based PCR for Improved Molecular Diagnosis of Tuberculosis18
New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing18
Evaluation of Pre-Analytical Variables for Human Papillomavirus Primary Screening from Self-Collected Vaginal Swabs18
Comparison of Targeted RNA-Sequencing Platforms for Oncogenic Fusion Detection in Non–Small-Cell Lung Cancer18
Molecular Diagnosis of Toxoplasmosis17
Table of Contents17
Author Index17
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms17
Hearing Impairment with Monoallelic GJB2 Variants17
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex17
Utility of Epstein-Barr Viral Load in Blood for Diagnosing and Predicting Prognosis of Lymphoma17
Sensitivity and Specificity of Chimerism Tests in Predicting Leukemia Relapse Using Increasing Mixed Chimerism16
PirePred16
The Neoantigen Landscape of the Coding and Noncoding Cancer Genome Space16
Comparison of Results from Two Commercially Available In-House Tissue-Based Comprehensive Genomic Profiling Solutions16
Table of Contents16
Scientific Integrity Policy16
Detection of Biallelic Loss of DNA Repair Genes in Formalin-Fixed, Paraffin-Embedded Tumor Samples Using a Novel Tumor-Only Sequencing Panel15
Optimizing Insertion and Deletion Detection Using Next-Generation Sequencing in the Clinical Laboratory15
Scientific Integrity Policy15
Multicenter Evaluation of the Idylla GeneFusion in Non–Small-Cell Lung Cancer15
Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia15
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA)15
Failure to Detect Mutations in U2AF1 due to Changes in the GRCh38 Reference Sequence15
Editorial Board15
Diagnostic Capacities for Multidrug-Resistant Tuberculosis in the World Health Organization European Region14
Analytical Validation of an Automated Semiconductor-Based Next-Generation Sequencing Assay for Detection of DNA and RNA Alterations in Myeloid Neoplasms14
miR-122 and miR-21 are Stable Components of miRNA Signatures of Early Lung Cancer after Validation in Three Independent Cohorts14
Evaluating Diagnostic Accuracy of Saliva Sampling Methods for Severe Acute Respiratory Syndrome Coronavirus 2 Reveals Differential Sensitivity and Association with Viral Load14
Assessment of BCOR Internal Tandem Duplications in Pediatric Cancers by Targeted RNA Sequencing14
Minimal/Measurable Residual Disease Monitoring in Patients with Lymphoid Neoplasms by High-Throughput Sequencing of the T-Cell Receptor14
Instructions to Authors14
Validation of a New High-Throughput BD COR System Using the BD CTGCTV2 Assay14
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders14
Clinical Validation of a Non-Invasive Multi-Omics Method for Multi-Cancer Early Detection in Retrospective and Prospective Cohorts13
Rapid Molecular Screen of Spinocerebellar Ataxia Types 1, 2, and 3 by Triplet-Primed PCR and Melting Curve Analysis13
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
In Silico Approaches to Proficiency Testing13
Reverse-Transcription Loop-Mediated Isothermal Amplification Has High Accuracy for Detecting Severe Acute Respiratory Syndrome Coronavirus 2 in Saliva and Nasopharyngeal/Oropharyngeal Swabs from Asymp13
Comparison of the Diagnostic Performance of MeltPro and Next-Generation Sequencing in Determining Fluoroquinolone Resistance in Multidrug-Resistant Tuberculosis Isolates13
Single-Tube, Switched Temperature Amplicon Barcoding for Multiplex Detection of Rare Mutations in Circulating Tumor DNA13
Validation of Long Mononucleotide Repeat Markers for Detection of Microsatellite Instability13
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies13
The Clinical Validity of Urinary Pellet DNA Monitoring for the Diagnosis of Recurrent Bladder Cancer13
Identification of Tissue of Origin and Guided Therapeutic Applications in Cancers of Unknown Primary Using Deep Learning and RNA Sequencing (TransCUPtomics)13
Elements in Maintaining a Driving Force13
Mono- and Biallelic Replication–Coupled Gene Editing Discriminates Dominant-Negative and Loss-of-Function Variants of DNA Mismatch Repair Genes13
Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and A12
Editorial Board12
Analysis of Molecular Testing for Suspected Myeloproliferative Neoplasm at a Hybrid Community-Academic Health System12
Validation of the Labcorp Plasma Focus Test to Facilitate Precision Oncology Through Cell-Free DNA Genomic Profiling of Solid Tumors12
Table of Contents12
Instructions to Authors12
Author Index12
A Novel Approach to Detect IDH Point Mutations in Gliomas Using Nanopore Sequencing12
Table of Contents11
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 Setting11
Development of a Body of Knowledge for the Clinical Bioinformatician11
Celebrating 30 Years at the Heart of Precision Medicine11
Clinical Implementation of a High-Throughput Automated Comprehensive Genomic Profiling Test11
Evaluation of the Novaplex II HPV28 Detection Assay for HPV Typing in Formalin-Fixed, Paraffin-Embedded Tissues10
Comparison of RNA-Based Next-Generation Sequencing Assays for the Detection of NTRK Gene Fusions10
Table of Contents10
Editorial Board10
Updates and Initiatives from The Journal of Molecular Diagnostics10
Quantitative Off-Target Detection of Epstein-Barr Virus–Derived DNA in Routine Molecular Profiling of Hematopoietic Neoplasms by Panel-Based Hybrid-Capture Next-Generation Sequencing10
Clinically Responsive Genomic Analysis Pipelines10
Table of Contents10
Evaluation of Two Commercial Kits on the Automated ELITe InGenius PCR Platform for Molecular Diagnosis of Toxoplasmosis10
RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia10
Optical Genome Mapping for Comprehensive Cytogenetic Analysis of Soft-Tissue and Bone Tumors for Diagnostic Purposes10
Fragile X Syndrome Carrier Screening Using a Nanopore Sequencing Assay10
Reviewer Acknowledgment10
Table of Contents10
Equivalent Clinical Accuracy of Human Papillomavirus DNA Testing Using Cobas 4800 and 6800 Human Papillomavirus Systems in Paired Urine and Cervical Samples9
CRISPR-Cas9 Targeted Enrichment and Next-Generation Sequencing for Mutation Detection9
Surveillance of Disease Progression in Metastatic Breast Cancer by Molecular Counting of Circulating Tumor DNA Using Plasma-SeqSensei Breast Cancer in Vitro Diagnostics Assay9
Authors' Reply9
Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor–Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue9
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing9
Practical Considerations for Using RNA Sequencing in Management of B-Lymphoblastic Leukemia9
Leveraging Off-Target Reads in Panel Sequencing for Homologous Recombination Repair Deficiency Screening in Tumor9
Comparison of Two Quantitative PCR–Based Assays for Detection of Minimal Residual Disease in B-Precursor Acute Lymphoblastic Leukemia Harboring Three Major Fusion Transcripts9
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics9
Table of Contents9
Editorial Board8
Overcoming the Pitfalls of Next-Generation Sequencing–Based Molecular Diagnosis of Shwachman-Diamond Syndrome8
Editorial Board8
A Curriculum for Genomic Education of Molecular Genetic Pathology Fellows8
Mutational Signatures in Cancer8
Investigating the Pathogenicity of Uncommon KRAS Mutations and Their Association with Clinicopathologic Characteristics in Patients with Colorectal Cancer8
High Prevalence of Chromosomal Rearrangements and LINE Retrotranspositions Detected in Formalin-Fixed, Paraffin-Embedded Colorectal Cancer Tissue8
Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers8
Ultrasensitive Quantitation of Genomic Chimerism by Single-Molecule Molecular Inversion Probe Capture and High-Throughput Sequencing of Copy Number Deletion Polymorphisms8
Accurate Detection and Quantification of FLT3 Internal Tandem Duplications in Clinical Hybrid Capture Next-Generation Sequencing Data8
Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk7
Performance Characteristics of Next-Generation Sequencing–Based Engraftment Monitoring and Microchimerism Detection in Allogeneic Hematopoietic Cell Transplantation7
Next-Generation Sequencing–Based Antigen-Receptor Gene Clonality Assays7
Development of a Rapid and High-Throughput Multiplex Real-Time PCR Assay for Mycoplasma hominis and Ureaplasma Species7
Molecular Testing in Breast Cancer7
Editorial Board7
CANTRK7
Transcriptome Sequencing Allows Comprehensive Genomic Characterization of Pediatric B-Acute Lymphoblastic Leukemia in an Academic Clinical Laboratory7
Identification of a CCG-Enriched Expanded Allele in Patients with Myotonic Dystrophy Type 1 Using Amplification-Free Long-Read Sequencing7
Correction7
Leading in a Clinical Molecular Laboratory7
Editorial Board7
Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling7
NGS4THAL, a One-Stop Molecular Diagnosis and Carrier Screening Tool for Thalassemia and Other Hemoglobinopathies by Next-Generation Sequencing7
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
Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment7
Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms7
Evaluation of the TruSight Oncology 500 Assay for Routine Clinical Testing of Tumor Mutational Burden and Clinical Utility for Predicting Response to Pembrolizumab7
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
CYP3A4 and CYP3A5 Genotyping Recommendations7
Abstracts of the AMP Europe 2024 Congress7
Cost-Effective Cas9-Mediated Targeted Sequencing of Spinocerebellar Ataxia Repeat Expansions7
Noninvasive Detection of Hepatocellular Carcinoma with Circulating Tumor DNA Features and α-Fetoprotein6
Automated Detection of Arm-Level Alterations for Individual Cancer Patients in the Clinical Setting6
An Educational Assessment of Evidence Used for Variant Classification6
The Correlation between Plasma Circulating Tumor DNA and Radiographic Tumor Burden6
The Era of Molecular Hematopathology6
Sequential Approach to Improve the Molecular Classification of Childhood Acute Lymphoblastic Leukemia6
Ig Gene Clonality Analysis Using Next-Generation Sequencing for Improved Minimal Residual Disease Detection with Significant Prognostic Value in Multiple Myeloma Patients6
Validation of a High-Sensitivity Assay for Detection of Chimeric Antigen Receptor T-Cell Vectors Using Low-Partition Digital PCR Technology6
Author Index6
FindDNAFusion6
Disclosure Statement6
Circulating Tumor DNA6
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
Real-Time, Multiplexed SHERLOCK for in Vitro Diagnostics6
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing6
Editorial Board6
Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete6
Development and Validation of StrataNGS, a Multiplex PCR, Semiconductor Sequencing-Based Comprehensive Genomic Profiling Test6
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness6
Next-Generation Sequencing–Based Genomic Profiling of Children with Acute Myeloid Leukemia6
Homologous Recombination Deficiency as an Ovarian Cancer Biomarker in a Real-World Cohort6
Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism5
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
Corrections5
DNA Methylation Profiling Discriminates between Malignant Pleural Mesothelioma and Neoplastic or Reactive Histologic Mimics5
MET Exon 14 Skipping Mutations5
Enhancing the Reliability of PMP22 Copy Number Variation Detection with an Inherited Peripheral Neuropathy Panel5
Prolonged Unfrozen Storage and Repeated Freeze-Thawing of SARS-CoV-2 Patient Samples Have Minor Effects on SARS-CoV-2 Detectability by RT-PCR5
Validation and Implementation of a Somatic-Only Tumor Exome for Routine Clinical Application5
Recommendations for the Use of in Silico Approaches for Next-Generation Sequencing Bioinformatic Pipeline Validation5
Comprehensive Analysis of Spinal Muscular Atrophy5
Highly Sensitive Detection Method of CXCR4 Tumor Hotspot Mutations by Drop-Off Droplet Digital PCR in Patients with IgM Monoclonal Gammopathies5
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes5
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases5
Automated Pharmacogenomic Reports for Clinical Genome Sequencing5
SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas5
Clinical Validation of a Sensitive Test for Saliva Collected in Healthcare and Community Settings with Pooling Utility for Severe Acute Respiratory Syndrome Coronavirus 2 Mass Surveillance5
Instructions to Authors5
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms5
Evaluation of a Zoonotic Orthopoxvirus PCR Assay for the Detection of Mpox Virus Infection5
Table of Contents4
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer4
Next-Generation Sequencing Is More Efficient at Detecting Mosaic Embryos and Improving Pregnancy Outcomes than Single-Nucleotide Polymorphism Array Analysis4
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay4
Universal Digital High-Resolution Melt Analysis for the Diagnosis of Bacteremia4
Digital Droplet PCR Is a Reliable Tool to Improve Minimal Residual Disease Stratification in Adult Philadelphia-Negative Acute Lymphoblastic Leukemia4
Characterization of Reference Materials for DPYD4
Comparison of the Clinical Accuracy of Xpert HPV Assay on Vaginal Self-Samples and Cervical Clinician-Taken Samples within the VALHUDES Framework4
Development of Cooperative Primer-Based Real-Time PCR Assays for the Detection of Plasmodium malariae and Plasmodium ovale4
Table of Contents4
Accurate Quantification of T Cells in Copy Number Stable and Unstable DNA Samples Using Multiplex Digital PCR4
Detection of Constitutional Structural Variants by Optical Genome Mapping4
Table of Contents4
Assessment of MYC/PTEN Status by Gene-Protein Assay in Grade Group 2 Prostate Biopsies4
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis4
Table of Contents4
Characterization of Reference Materials for TPMT and NUDT154
Highly Selective, Single-Tube Colorimetric Assay for Detection of Multiple Mutations in the Epidermal Growth Factor Receptor Gene4
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
Table of Contents4
Authors' Reply4
Transitioning T-Cell Clonality Testing to High-Throughput Sequencing4
Performance Assessment of the Devyser High-Throughput Sequencing–Based Assay for Chimerism Monitoring in Patients after Allogeneic Hematopoietic Stem Cell Transplantation4
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 w4
A Novel Targeted Amplicon Next-Generation Sequencing Gene Panel for the Diagnosis of Common Variable Immunodeficiency Has a High Diagnostic Yield4
Editorial Board4
Realizing the Dream of Precision Oncology4
A Novel Bead-Capture Nanopore Sequencing Method for Large Structural Rearrangement Detection in Cancer4
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
Editorial Board3
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
Toward Cytogenomics3
Digital PCR for Minimal Residual Disease Quantitation Using Immunoglobulin/T-Cell Receptor Gene Rearrangements in Acute Lymphoblastic Leukemia3
Correction3
Implementation of DNA Methylation Array Profiling in Pediatric Central Nervous System Tumors3
Table of Contents3
The Lund Molecular Taxonomy Applied to Non–Muscle-Invasive Urothelial Carcinoma3
Clinical Implementation of MetaFusion for Accurate Cancer-Driving Fusion Detection from RNA Sequencing3
Fragment Size-Based Enrichment of Viral Sequences in Plasma Cell-Free DNA3
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
Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays3
Assay Validation of Cell-Free DNA Shallow Whole-Genome Sequencing to Determine Tumor Fraction in Advanced Cancers3
Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes3
Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing3
Colocalization of Cancer-Associated Biomarkers on Single Extracellular Vesicles for Early Detection of Cancer3
Title Page3
Targeted Genotyping in Clinical Pharmacogenomics3
Comparative Analysis of Gene Expression Analysis Methods for RNA in Situ Hybridization Images3
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