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The Journal of Molecular Diagnostics

@jmdiagn.bsky.social
96 followers 16 following 357 posts

The official publication of the Association for Molecular Pathology, co-owned by the American Society for Investigative Pathology. Publishing advancements in #moldx and #molpath

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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 02/10/2026
#LegacyContent: Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations. Free in the #OpenArchive: www.jmdjournal.org/article/S1525-15…
jmdjournal.org
Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations
Genomic profiling of cancers informs diagnostic and prognostic classification and aids in selection of targeted therapeutics. Targeted, next-generation sequencing of cancer-specific genes is clinically feasible and enables comprehensive somatic reporting; without a matched germline specimen, germline alterations can confound analyses of the somatic profile and create uncertainty in interpretation. We report the validation and implementation of optional matched tumor/germline sequencing in our...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 24/09/2026
#LegacyContent: Cost-effectiveness Analysis of Comprehensive Genomic Profiling in Patients with Advanced Non-small Cell Lung Cancer Using Real-world Data. Free in the #OpenArchive: www.jmdjournal.org/article/S1525-15…
jmdjournal.org
Cost-effectiveness Analysis of Comprehensive Genomic Profiling in Patients with Advanced Non-small Cell Lung Cancer Using Real-world Data
Cancer treatment costs pose a significant global economic burden. By facilitating treatment plans tailored to the genomic profile of patients’ cancer, genomic testing has the potential to reduce healthcare costs. Using real-world evidence, this study compared the cost-effectiveness of comprehensive genomic profiling (CGP) versus small panel (SP) testing in patients with advanced non-small cell lung cancer (aNSCLC) in the US and Germany. A partitioned survival model was developed to estimate t...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 22/09/2026
#LegacyContent: Development of a Multiplex Real-Time PCR Assay for the Rapid Detection of the Asian-Type DEL. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
jmdjournal.org
Development of a Multiplex Real-Time PCR Assay for the Rapid Detection of the Asian-Type DEL
Asian-type DEL (RHD, c.1227G>A) is relatively prevalent in East Asians and is essential to detect in serologic rhesus (Rh) D-negative individuals. Despite the recognized importance of identifying Asian-type DEL, traditional detection methods, such as adsorption-elution and Sanger sequencing, are complex and time-consuming. A reliable method is required for the rapid and precise detection of Asian-type DEL. A novel multiplex real-time PCR assay using allele-specific TaqMan hydrolysis probes wa...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 17/09/2026
#LegacyContent: Age-Stratified Epidemiology of Respiratory Pathogens and the Value of Customizable Syndromic Testing Using the LIAISON PLEX Respiratory Flex Assay. From @ampath.bsky.social member Kaisha Gonzalez at #Diasorin #OpenArchive: loom.ly/i02MbNQ
jmdjournal.org
Age-Stratified Epidemiology of Respiratory Pathogens and the Value of Customizable Syndromic Testing Using the LIAISON PLEX Respiratory Flex Assay
Molecular syndromic assays have improved respiratory diagnostics by enabling the simultaneous detection of multiple pathogens from a single sample. However, fixed-panel designs may not align with age-specific prevalence patterns or evolving epidemiologic trends, limiting clinical utility and reimbursement viability. In this study, 1520 positive nasopharyngeal swabs from symptomatic individuals collected during the 2022 to 2023 respiratory season were analyzed by using the LIAISON PLEX Respira...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 15/09/2026
#LegacyContent: Cell-Free DNA, Tumor Molecular Concordance, and Clinical Correlates of Patients with Cancer Treated in a Large Community Health Care Network. Authors from @cmu.edu. #OpenAccess text: loom.ly/DljlxKQ
jmdjournal.org
Cell-Free DNA, Tumor Molecular Concordance, and Clinical Correlates of Patients with Cancer Treated in a Large Community Health Care Network
Blood collection, plasma processing, and cell-free DNA (cfDNA) purification were optimized to capture circulating tumor DNA without blood cell background DNA among 874 patients with cancer. cfDNA comprised predominantly mononucleosomal fragments (n = 874; x¯ ± SD = 166 ± 5 bp) that generated comparably sized sequencing reads (x¯ ± SD = 162 ± 25 bp). Despite a vast range of cfDNA concentrations (0.50 to 1132.9 ng/mL) across 21 tumor types, matched tumor and blood specimens (n = 430 patients) r...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 10/09/2026
#LegacyCntent: Development of an End-to-End Total RNA Sequencing Quality Control Framework for Blood-Based Biomarker Discovery #OpenArchive: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 08/09/2026
#LegacyContent: Value of molecular autopsy in suspected sudden cardiac death in the young. @univgirona.bsky.social Free in the #OpenArchive: www.jmdjournal.org/article/S1525-15…
jmdjournal.org
Value of molecular autopsy in suspected sudden cardiac death in the young
Genetic testing, as part of the medico-legal autopsy in cases of suspected sudden cardiac death, has been recommended for several years, however, are rarely performed. The aim was to assess the value of postmortem genetic testing in unexplained sudden death in the young. This is a prospective study including all cases with unexplained natural sudden death cases in individuals ≤50 years old undergoing a legal autopsy. Postmortem genetic testing was routinely performed in cases under 35 and aft...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 03/09/2026
#LegacyContent: Clinical performance evaluation of a tiling amplicon panel for whole genome sequencing of respiratory syncytial virus. @uwmedicine.bsky.social @fredhutch.bsky.social #OpenArchive: loom.ly/p8p9EEs
jmdjournal.org
Clinical performance evaluation of a tiling amplicon panel for whole genome sequencing of respiratory syncytial virus
Accurate genomic characterization of respiratory syncytial virus (RSV) is crucial for studies of epidemiology and viral evolution, including monitoring potential escape from newly authorized vaccines and prophylactic monoclonal antibodies. We adapted a viral genome tiling amplicon panel (UW-ARTIC) and developed a custom bioinformatic pipeline for high-throughput, cost-effective sequencing of both RSV-A and RSV-B subgroups. We established genome acceptability criteria and determined the perfor...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 25/08/2026
#LegacyContent: Analytical performance of the NCI-myeloMATCH assay – a rapid turnaround genomic profiling assay for myeloid disorders. Free in the #OpenArchive: www.jmdjournal.org/article/S152...
jmdjournal.org
Analytical Performance of the NCI-myeloMATCH Assay
myeloMATCH is a National Cancer Institute (NCI) precision medicine clinical trial initiative to evaluate treatments for acute myeloid leukemia and myelodysplastic syndrome based on a leukemia’s diagno...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 19/08/2026
#LegacyContent: Morphological Bone Score as a Predictive Tool for Molecular Profiling Success. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 17/08/2026
#LegacyContent: Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples. Full text: www.jmdjournal.org/article/S1525-15…
jmdjournal.org
Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples
Human papillomavirus (HPV) is linked to various cancers, including cervical, anal, and head and neck cancers. Conventional methods for HPV genotyping and commercial platforms are limited to detecting high-risk HPV genotypes primarily in gynecologic samples. Because of changing trends in the epidemiology and pathogenesis, there is a growing need for HPV genotyping techniques applicable to emerging clinical contexts involving diverse sample types, such as head and neck or anal samples, particul...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 14/08/2026
#LegacyContent: Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma. @cniostopcancer.bsky.social @idibaps.bsky.social Free in the #OpenArchive: loom.ly/U7X9p0g
jmdjournal.org
Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma
It was recently reported that follicular lymphoma (FL) with BCL6 rearrangement (R) is associated with favorable progression-free survival, whereas BCL2-R and BCL2-6-R cases are associated with disease progression. However, the pathologic mechanism remained unexplored. This study analyzed the mutational landscape and immune microenvironment of 31 FL cases, including 16 BCL2-R, 11 BCL6-R, and 4 BCL2-6-R FL cases. The method included an in-house next-generation targeted sequencing panel of 168 g...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 12/08/2026
Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 12/08/2026
#LegacyContent: A Comparative Study of Medium-Coverage Genome Sequencing and SNP Array Technology in Identifying Chromosomal Abnormalities to Advance Prenatal and Postnatal Diagnosis. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 11/08/2026
Digital PCR for Absolute Quantification of Adenoviruses #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 10/08/2026
Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 07/08/2026
#LegacyContent: Leveraging RNA from DNA Extraction Lysate to Rescue 'Insufficient' Samples for More Comprehensive Genomic Profiling in Patients with Scant Tumor Specimens. Free in the #OpenArchive: www.jmdjournal.org/article/S152...
jmdjournal.org
Leveraging RNA from DNA Extraction Lysate to Rescue “Insufficient” Samples for More Comprehensive Genomic Profiling in Patients with Scant Tumor Specimens
Tissue availability is often a limiting factor in obtaining comprehensive genomic profiling to identify actionable oncogenic drivers in tumors from patients with cancer. The utility of performing comp...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 07/08/2026
Read the new Guest Editorial in @jmdiagn.bsky.social : Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 05/08/2026
Rapid On-Site Next-Generation Sequencing: An Alternative to Single-Gene and Send-Out Testing in Non–Small Cell Lung Cancer and Colorectal Cancer in a Community Pathology Laboratory Setting. Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 05/08/2026
#LegacyContent: Recommendations for Clinical Molecular Laboratories for Detection of Homologous Recombination Deficiency in Cancer: A Joint Consensus Recommendation of the AMP, ACCC and CAP. Read for free: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 03/08/2026
New month, new #LegacyContent! The August 2025 issue of @jmdiagn.bsky.social is now fully free in the #OpenArchive. Full issue: www.jmdjournal.org/issue/S1525-1578… #germline #genomicprofiling #mutation #
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 24/07/2026
Read the latest Guest Editorial in @jmdiagn.bsky.social: Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer: A Consensus Statement Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 24/07/2026
Read the latest press release from @jmdiagn.bsky.social and @elsevierconnect.bsky.social: RNA-Based Testing Uncovers Extraordinary Diversity in Mutations Driving Lung Cancer. Full release: spkl.io/60187JlSi
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 23/07/2026
#LegacyContent: Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core: A Report of the @ampath.bsky.social. Read for free: www.jmdjournal.org/article/S1525-15…
jmdjournal.org
Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core
With the evolution of next-generation sequencing–based testing in molecular diagnostics laboratories, the clinical role of bioinformaticians has also evolved. The Association for Molecular Pathology's Clinical Bioinformatician Body of Knowledge aims to define the various roles the clinical bioinformatician operates individually or within a clinical bioinformatics team, along with proficiencies and skill sets that may be required or desirable across these roles. One of the most common professi...
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Association for Molecular Pathology @ampath.bsky.social · 20/07/2026
Interested in inherited disorders or molecular predictors used in precision medicine? The Journal of Molecular Diagnostics genetics section offers insights into diagnostic approaches, variant interpretation & genetic test design. www.jmdjournal.org/content/genetics…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 09/07/2026
#ArticleinPress: Genetic Landscape of Acute Leukemia of Ambiguous Lineage: A Single Cancer Center Experience. Authors from @cityofhope.bsky.social. Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 08/07/2026
#ArticleinPress: Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 07/07/2026
Rapid On-Site Next-Generation Sequencing: An Alternative to Single-Gene and Send-Out Testing in Non–Small Cell Lung Cancer and Colorectal Cancer in a Community Pathology Laboratory Setting. Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 06/07/2026
Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 30/06/2026
The deadline for abstract submission to #AMP2026 is today at midnight! Abstracts will be published in @jmdiagn.bsky.social as an online supplement. Get yours submitted before it's too late!
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 29/06/2026
#ArticleinPress: Multicenter Clinical Comparison of the 10-Minute AMDI Fast PCR Mini Respiratory Panel and the Cepheid Xpert Xpress CoV-2/Flu/RSV plus. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 26/06/2026
Read the new Guest Editorial coming out soon in @jmdiagn.bsky.social : Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 25/06/2026
#ArticleinPress: Digital PCR for Absolute Quantification of Adenoviruses #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 18/06/2026
Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome. Read for free as an #EditorsChoice for June: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 17/06/2026
Oncogenicity Variant Interpreter (OncoVI) Supports Harmonized Somatic Variant Interpretation in Precision Oncology. Authors from @fau.de #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 11/06/2026
Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 09/06/2026
Diagnostic Utility of Single Nucleotide Polymorphism Microarray in Evaluating Pancreaticobiliary Brushing Specimens in Conjunction with Conventional Cytology. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 04/06/2026
Read the June issue of @JMDiagn online! Full issue: www.jmdjournal.org/issue/S1525-1578… #Cytology #Polymorphism #HIV #FragileX #LiquidBiopsy
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 29/05/2026
#ArticleinPress: Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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Association for Molecular Pathology @ampath.bsky.social · 20/05/2026
This free webinar on June 4 (12 p.m. ET) takes a look at the biology, clinical relevance and ongoing challenges shaping MTAP testing. Register: educate.amp.org/local/catalog/view/…
Graphic contains a close-up of a DNA double helix illustrating molecular biology. It's advertising a webinar on MTAP deficiency and deletion in cancer, which will be held at noon Eastern on June 4.
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Reposted by The Journal of Molecular Diagnostics
The American Journal of Pathology @ajpathology.bsky.social · 20/05/2026
Epidermal Growth Factor Receptor/KIT-Linked Proliferative Bias in Normal Breast Lobules from Matched Non-Hispanic Black and White Women Is Rapidly Reversible by Receptor Tyrosine Kinase Inhibition. #OpenAccess text: loom.ly/M5CcD0E
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 18/05/2026
#LegacyContent: Rapid, Reliable, and Interpretable Copy Number Variant Curation Visualizations for Diagnostic Settings with SeeNV. Free in the #OpenArchive: www.jmdjournal.org/article/S152...
jmdjournal.org
Rapid, Reliable, and Interpretable Copy Number Variant Curation Visualizations for Diagnostic Settings with SeeNV
Copy number variants (CNVs), structural alterations in the genome involving duplication or deletion of DNA segments, are implicated in various health conditions. Despite their clinical significance, a...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 14/05/2026
#LegacyContent: Detection of gene fusions and rearrangements in FFPE solid tumor specimens using Hi-C. Authors from @nyulangone.bsky.social, @weillcornell.bsky.social, @scrippshealth.bsky.social, @ucsdhealth.bsky.social Free in the #OpenArchive: www.jmdjournal.org/article/S152...
jmdjournal.org
Detection of Gene Fusions and Rearrangements in Formalin-Fixed, Paraffin-Embedded Solid Tumor Specimens Using High-Throughput Chromosome Conformation Capture
Chromosomal structural variants (SVs) are major contributors to cancer development. Although multiple methods exist for detecting SVs, they are limited in throughput, such as fluorescent in situ hybri...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 13/05/2026
Long-Read Whole-Transcriptome Sequencing and Selective Gene Panel Profiling Enable Sensitive Detection of Fusion Oncogenes in Pediatric B-Cell Acute Lymphoblastic Leukemia. #OpenAccess text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 12/05/2026
#ArticleinPress: Diagnostic Utility of Single Nucleotide Polymorphism Microarray in Evaluating Pancreaticobiliary Brushing Specimens in Conjunction with Conventional Cytology. #OpenAccess text: www.jmdjournal.org/article/S152...
jmdjournal.org
Diagnostic Utility of Single Nucleotide Polymorphism Microarray in Evaluating Pancreaticobiliary Brushing Specimens in Conjunction with Conventional Cytology
Bile duct brushings are noninvasive samplings of cells from the biliary tract for cytologic evaluation and are useful to diagnose pancreaticobiliary malignancies. Although specificity of cytology is s...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 12/05/2026
#LegacyContent: A novel and comprehensive whole-genome sequencing-based preimplantation genetic testing approach for different genetic conditions. Free in the #OpenArchive: www.jmdjournal.org/article/S152...
jmdjournal.org
A Novel and Comprehensive Whole-Genome Sequencing–Based Preimplantation Genetic Testing Approach for Different Genetic Conditions
Preimplantation genetic testing (PGT) is an essential tool for selecting embryos free of genetic abnormalities. However, current PGT methods often require separate platforms for aneuploidy (PGT-A), mo...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 11/05/2026
High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 08/05/2026
#LegacyContent: Impact and reproducibility of in-house targeted next-generation sequencing biomarker testing in non-small cell lung cancer: an Italian multi-institutional experience. #OpenAccess text: www.jmdjournal.org/article/S152...
jmdjournal.org
Impact and Reproducibility of In-House Targeted Next-Generation Sequencing Biomarker Testing in Non–Small-Cell Lung Cancer
Next-generation sequencing (NGS) allows the detection of multiple genetic targets in different tumor types. This study aimed to confirm the benefits of implementing in-house NGS testing for non–small-...
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 07/05/2026
Read the latest #Spotlight: Optimization of the Extended Respiratory Panel Utilization via an Electronic Health Record Best Practice Alert Full text: www.jmdjournal.org/article/S1525-15…
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The Journal of Molecular Diagnostics @jmdiagn.bsky.social · 20/04/2026
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders. Full text: www.jmdjournal.org/article/S152...
jmdjournal.org
Long-Read Amplicon Sequencing for the Detection of TERT Promoter Variant Clonal Hematopoiesis in Patients with Telomere Biology Disorders
Acquired TERT promoter (TERTp) variants are found in the blood of patients with telomere biology disorders and carry diagnostic and prognostic significance. Detection of these variants is challenging ...
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