#LegacyCntent: Development of an End-to-End Total RNA Sequencing Quality Control Framework for Blood-Based Biomarker Discovery #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(25)00143-6/fulltext
The Journal of Molecular Diagnostics
@jmdiagn.bsky.social
The official publication of the Association for Molecular Pathology, co-owned by the American Society for Investigative Pathology. Publishing advancements in #moldx and #molpath
#LegacyContent: Value of molecular autopsy in suspected sudden cardiac death in the young. @univgirona.bsky.social Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(25)00140-0/fulltext
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...
jmdjournal.org
#LegacyContent: Clinical performance evaluation of a tiling amplicon panel for whole genome sequencing of respiratory syncytial virus. @uwmedicine.bsky.social @fredhutch.bsky.social #OpenArchive: https://loom.ly/p8p9EEs
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...
jmdjournal.org
#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...
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...
jmdjournal.org
#LegacyContent: Morphological Bone Score as a Predictive Tool for Molecular Profiling Success. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00137-0/fulltext
#LegacyContent: Validation of Human Papillomavirus Genotyping by Oxford Nanopore Sequencing in Formalin-Fixed, Paraffin-Embedded Tissues and ThinPrep Anal and Gynecologic Samples. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00133-3/fulltext
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...
jmdjournal.org
#LegacyContent: Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma. @cniostopcancer.bsky.social @idibaps.bsky.social Free in the #OpenArchive: https://loom.ly/U7X9p0g
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...
jmdjournal.org
Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing Full text: https://www.jmdjournal.org/article/S1525-1578(26)00089-9/fulltext
#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: https://www.jmdjournal.org/article/S1525-1578(25)00119-9/fulltext
Just a moment...
jmdjournal.org
Digital PCR for Absolute Quantification of Adenoviruses #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(26)00078-4/fulltext
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: https://www.jmdjournal.org/article/S1525-1578(26)00087-5/fulltext
#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...
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...
jmdjournal.org
Read the new Guest Editorial in @jmdiagn.bsky.social : Optimization of Pathologists' Roles in Molecular Biomarker Testing in Metastatic Breast Cancer Full text: https://www.jmdjournal.org/article/S1525-1578(26)00086-3/fulltext
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: https://www.jmdjournal.org/article/S1525-1578(26)00088-7/fulltext
#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: https://www.jmdjournal.org/article/S1525-1578(25)00136-9/fulltext
Just a moment...
jmdjournal.org
New month, new #LegacyContent! The August 2025 issue of @jmdiagn.bsky.social is now fully free in the #OpenArchive. Full issue: https://www.jmdjournal.org/issue/S1525-1578(24)X0010-0 #germline #genomicprofiling #mutation #
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: https://www.jmdjournal.org/article/S1525-1578(26)00086-3/fulltext
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
#LegacyContent: Clinical Bioinformatician Body of Knowledge—Bioinformatics and Software Core: A Report of the @ampath.bsky.social. Read for free: https://www.jmdjournal.org/article/S1525-1578(25)00118-7/fulltext
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...
jmdjournal.org
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. https://www.jmdjournal.org/content/genetics?startPage=&openAccess=18
#ArticleinPress: Genetic Landscape of Acute Leukemia of Ambiguous Lineage: A Single Cancer Center Experience. Authors from @cityofhope.bsky.social. Full text: https://www.jmdjournal.org/article/S1525-1578(26)00097-8/fulltext
#ArticleinPress: Analytical Validation of Short-Read Genome Sequencing for Diagnostic Panel and Exome Testing Full text: https://www.jmdjournal.org/article/S1525-1578(26)00089-9/fulltext
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: https://www.jmdjournal.org/article/S1525-1578(26)00088-7/fulltext
Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(26)00064-4/fulltext
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!
Association for Molecular Pathology@ampath.bsky.social · 3mo agoTODAY (6/30) is the deadline to submit an abstract for #AMP2026 in Seattle! Submit here for FREE: https://ow.ly/KvVm50Z6pn6 If you have any trouble, email us at amp@amp.org. Best of luck, and we look forward to reading about the important work you've been doing!
#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: https://www.jmdjournal.org/article/S1525-1578(26)00087-5/fulltext
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: https://www.jmdjournal.org/article/S1525-1578(26)00086-3/fulltext
#ArticleinPress: Digital PCR for Absolute Quantification of Adenoviruses #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(26)00078-4/fulltext
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: https://www.jmdjournal.org/article/S1525-1578(26)00044-9/fulltext
Oncogenicity Variant Interpreter (OncoVI) Supports Harmonized Somatic Variant Interpretation in Precision Oncology. Authors from @fau.de #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(26)00054-1/fulltext
