Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders. @seattlechildrens.org Full text: https://www.jmdjournal.org/article/S1525-1578(25)00194-1/fulltext

High-Specificity Detection of Ultraviolet Mutational Signatures in Circulating Tumor DNA for Diagnostic Classification of Cutaneous and Unknown Primary Tumors using FoundationOne Liquid CDx. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00193-X/fulltext

From expert knowledge to validation resources – a case for using in silico approaches to close the gap in available reference materials for common germline genetic tests. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00195-3/fulltext

#ArticleinPress: Harmonization of reporting for detection of ALK genetic alterations in neuroblastoma - a SIOPEN Biology study. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00250-8/fulltext

The November issue of @jmdiagn.bsky.social is now live online! Full issue: https://www.jmdjournal.org/issue/S1525-1578(24)X0013-6 #ctDNA #adenovirus #chromosomalvariant

Read the latest #PressRelease from @jmdiagn.bsky.social and @elsevierconnect.bsky.social: New 3D Genome Mapping Tool Reveals Hidden Complexity in DNA. Full release: https://shorturl.at/AoE4r

#ArticleinPress: Bridge Capture permits cost-efficient, rapid and sensitive molecular precision diagnostics. Authors from @utu.fi #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00249-1/fulltext

#ArticleinPress: Preanalytical histology review improves POLE mutation detection in endometrial carcinomas. Authors from @stanfordmedicine.bsky.social. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00251-X/fulltext

#LegacyContent: Characterization of Reference Materials for DPYD: A GeT-RM Collaborative Project. Authors from @research.childrensmercy.org @mayoclinic.org Free in the #OpenArchive: https://loom.ly/tObQjC0

#ArtilcleinPress: Validation of a Modular Gene Expression Assay for Risk Stratification and Subtyping Lymphomas. Authors from @utoronto.ca @uhn.ca #OpenAccess text: https://loom.ly/VosfohA

#ArticleinPress: Enhanced Detection of Splice-Altering Variants in Hematologic Malignancies Using Targeted RNA-Sequencing Data. Authors from @sahmri.bsky.social Full text: https://www.jmdjournal.org/article/S1525-1578(25)00238-7/fulltext

#ArticleinPress: Comparative Performance of a Targeted Next-Generation Sequencing Assay Against Multiplexed Digital PCR Assays in Detecting ERBB2, ESR1, and PIK3CA Mutations in Plasma Circulating Cell-Free DNA from Liquid Biopsies. Full text: https://loom.ly/YZGyEqc

#ArticleinPress: Comparative Analysis of Gene Expression Analysis Methods for RNA In Situ Hybridization Images. Authors from @helsinki.fi Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00163-6/fulltext

#LegacyContent: Analytical Validation of an Early Detection Pancreatic Cancer Test Using 5-Hydroxymethylation Signatures. From authors at @clearnotehealth.bsky.social. #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00158-2/fulltext

For October, the ASIP calendar features The Journal of Molecular Diagnostics! @jmdiagn.bsky.social is the official publication of @ampath.bsky.social, co-owned by the ASIP https://www.jmdjournal.org #MolecularDiscoveries

A novel ddPCR assay for BRCA1 and RAD51C methylation: Advancing HRD Detection in Ovarian Cancer. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00182-5/fulltext

#ArticleinPress: Clinical Utility of Multitissue Genomic Arrays in Diagnosing Pigmentary Mosaicism Associated with Neurodevelopmental Delay. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00225-9/fulltext

#LegacyContent: Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing. Authors from @cincychildrens.bsky.social #OpenAccess: https://loom.ly/x3FedOg

#ArticleinPress: Analysis of the Fragmentation and Integrity of Urine Cell-Free DNA as a Diagnostic and Staging Biomarker for Bladder Cancer. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00222-3/fulltext

Evaluation of long-read genome sequencing for genomic profiling of myeloid cancers. #LongReads #Sequencing #GenomicProfiling #MyeloidCancers @jmdiagn.bsky.social www.jmdjournal.org/article/S152...

Analytical Validation of a Pan-Cancer NGS Assay for In-House Liquid Biopsy Testing: An International Multicenter Study. #PanCancerNGS #LiquidBiopsy @jmdiagn.bsky.social www.jmdjournal.org/article/S152...

Additional diagnostic yield through the analysis of short tandem repeats based on exome sequencing data. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00172-2/fulltext

#ArticleinPress: Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers. Authors from @washumedicine.bsky.social #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00223-5/fulltext

#ArticleinPress: Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test. Authors from @mayoclinic.org. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00221-1/fulltext

Bridging the diagnostic gap in hereditary cancers with simple, cost-effective, high-throughput RNA splicing analysis. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00168-0/fulltext

FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity. @broadinstitute.org #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00167-9/fulltext

#ArticleinPress: Analytical Validation of a Pan-Cancer Next-Generation Sequencing Assay for In-House Liquid Biopsy Testing. @tum.de @medunigraz.at #OpenAccess: https://www.jmdjournal.org/article/S1525-1578(25)00220-X/fulltext

#LegacyContent: A network-based framework to discover treatment-response-predicting biomarkers for complex diseases. Authors from @weareceu.bsky.social, @harvardmed.bsky.social #OpenAccess text: https://loom.ly/PzoUMKI

#ArticleinPress: Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00219-3/fulltext

Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00169-2/fulltext

#LegacyContent: Strategic Implementation of #FragileX Carrier Screening in China: A Focused Pilot Study. Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00156-9/fulltext

#ArticleinPress: TAG-CLL, a Novel Tagmentation-Based Approach to Somatic Hypermutation Testing of IGHV Reveals the Weak Points of Both Sanger and Next-Generation Sequencing Methods. @polskaakademianauk.bsky.social Full text: https://loom.ly/5YyF7cQ

Clinical Implementation of Matched Tumor/Germline Sequencing Improves Accuracy of Tumor Genomic Profiling and Therapeutic Recommendations. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00170-9/fulltext

Read the closing editorial for our #JMDSilver celebration, from Editor in Chief Ron Przygodzki: Celebrating 25 Years of Innovation with a Tribute to Our Contributors and the Future of Molecular Diagnostics Full text: https://www.jmdjournal.org/article/S1525-1578(25)00192-8/fulltext

New month, new #LegacyContent! The full October 2024 issue of @jmdiagn.bsky.social is now free in the #OpenArchive. Full issue: https://www.jmdjournal.org/issue/S1525-1578(23)X0013-0

#ArticleinPress: Performance Evaluation of the Aptima hrHPV Nucleic Acid Amplification and Papanicolaou Co-Testing in Cervical Cancer Screening: Insights from a Diverse Population-Based Retrospective Study. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00218-1/fulltext

#LegacyContent: Validation and Implementation of a Somatic only Tumor Exome for Routine Clinical Application. From @AMPath members at #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00151-X/fulltext

The October issue of @jmdiagn.bsky.social is now live online! Full issue: https://www.jmdjournal.org/issue/S1525-1578(24)X0012-4 #hemoglobinopathy #hereditarycancer #exomesequencing #ddPCR

#LegacyContent: Development, validation and implementation of an augmented multi-well, multi-target quantitative PCR-HPV genotyping analysis through software automation, data science and artificial intelligence. #OpenAccess: https://www.jmdjournal.org/article/S1525-1578(24)00149-1/fulltext

Cost-effectiveness Analysis of Comprehensive Genomic Profiling in Patients with Advanced Non-small Cell Lung Cancer Using Real-world Data. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00165-5/fulltext

#LegacyContent: Assessing the risk stratification of breast cancer polygenic risk scores in a Brazilian cohort. Authors from @brynmawrcollege.bsky.social Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00150-8/fulltext

Thank you to all our peer reviewers! Interested in being a reviewer for JMD? Create your account online and add your expertise so our editors can find you when searching for topically appropriate experts. www.editorialmanager.com/jmdi/default...

Development of a Multiplex Real-Time PCR Assay for the Rapid Detection of the Asian-Type DEL. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00161-8/fulltext

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 Full text: https://loom.ly/i02MbNQ

#ArticleinPress: 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 Samples Full text: https://www.jmdjournal.org/article/S1525-1578(25)00199-0/fulltext

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: https://loom.ly/DljlxKQ

#ArticleinPress: Solving the :: Fusion Nomenclature Challenge for File and Directory Naming #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00198-9/fulltext

#LegacyContent: Mono- and biallelic replication-coupled gene editing discriminates dominant-negative and loss-of-function variants of DNA mismatch repair genes. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00131-4/fulltext

Development of an End-to-End Total RNA Sequencing Quality Control Framework for Blood-Based Biomarker Discovery Full text: https://www.jmdjournal.org/article/S1525-1578(25)00143-6/fulltext

#LegacyContent: Plasma protein profiling to discern indolent from advanced systemic mastocytosis. Authors from @ki.se and @uu.se #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00130-2/fulltext