The Journal of Molecular Diagnostics @jmdiagn

#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

30.10.2025 12:16 — 👍 0 🔁 0 💬 0 📌 0

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

30.10.2025 09:13 — 👍 0 🔁 0 💬 0 📌 0

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

30.10.2025 06:34 — 👍 0 🔁 0 💬 0 📌 0

#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

29.10.2025 08:32 — 👍 1 🔁 1 💬 0 📌 0

#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

28.10.2025 19:05 — 👍 0 🔁 0 💬 0 📌 0

#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

28.10.2025 12:10 — 👍 1 🔁 1 💬 0 📌 0

#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

27.10.2025 17:42 — 👍 1 🔁 1 💬 0 📌 0

#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

24.10.2025 06:13 — 👍 1 🔁 1 💬 0 📌 0

#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

23.10.2025 12:38 — 👍 1 🔁 1 💬 0 📌 0

#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

23.10.2025 07:07 — 👍 1 🔁 1 💬 0 📌 0

#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

22.10.2025 12:50 — 👍 1 🔁 0 💬 0 📌 0

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

16.10.2025 05:03 — 👍 1 🔁 2 💬 0 📌 0

A novel ddPCR assay for BRCA1 and RAD51C methylation: Advancing HRD Detection in Ovarian Cancer Homologous recombination deficiency (HRD) affects 50% of ovarian cancers (OC) and influences PARP inhibitors efficacy. While one-third of HRD tumours harbour a deleterious BRCA1/2 mutation, these mutations are not the sole cause of HRD. Promoter methylation of BRCA1 and RAD51C contributes to 19% and 2% of cases, respectively.A cohort of 224 ovarian cancer (OC) patients tested for HRD validated our droplet digital PCR (ddPCR) technique. DNA was extracted from FFPE tissue, and the Genomic Insta...

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

17.10.2025 09:12 — 👍 0 🔁 0 💬 0 📌 0

#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

16.10.2025 12:19 — 👍 0 🔁 0 💬 0 📌 0

#LegacyContent: Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing. Authors from @cincychildrens.bsky.social

#OpenAccess: https://loom.ly/x3FedOg

16.10.2025 07:21 — 👍 0 🔁 0 💬 0 📌 0

#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

15.10.2025 12:49 — 👍 0 🔁 1 💬 0 📌 0

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

03.10.2025 14:31 — 👍 3 🔁 1 💬 0 📌 0

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...

03.10.2025 15:02 — 👍 3 🔁 1 💬 0 📌 0

Just a moment...

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

15.10.2025 06:17 — 👍 0 🔁 0 💬 0 📌 0

#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

14.10.2025 12:16 — 👍 0 🔁 0 💬 0 📌 0

#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

13.10.2025 12:19 — 👍 1 🔁 2 💬 0 📌 0

Bridging the diagnostic gap in hereditary cancers with simple, cost-effective, high-throughput RNA splicing analysis Diagnostic analysis of messenger RNA is essential as altered splicing is a frequent cause of genetic diseases. High throughput splicing studies remain difficult to implement in routine diagnostics. This is why we developed SEALigHTS (splice and expression analyses by ligation and high throughput sequencing), a cost-effective and easy-to-implement technique designed for simultaneous analysis of RNA from multiple patients on a panel of genes, using probes designed at exon extremities. Following...

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

13.10.2025 07:05 — 👍 0 🔁 0 💬 0 📌 0

FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity Accurate detection of EBV in tumors is essential for refining diagnosis and guiding management of EBV-associated cancers. This validation study evaluated the performance of the FoundationOne CDx (F1CDx) and FoundationOne Heme (F1H) next-generation sequencing (NGS) assays for detecting EBV compared to the reference standard EBV-encoded RNA (EBER) in situ hybridization (ISH). A total of 413 samples of gastric carcinoma, squamous cell carcinoma (predominantly nasopharyngeal carcinoma), and diffu...

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

10.10.2025 06:43 — 👍 1 🔁 1 💬 0 📌 0

#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

09.10.2025 07:07 — 👍 0 🔁 0 💬 0 📌 0

#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

09.10.2025 06:50 — 👍 0 🔁 0 💬 0 📌 0

#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

08.10.2025 12:09 — 👍 0 🔁 0 💬 0 📌 0

Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine Genomic testing has proven utility in disease diagnostics, guiding clinical management and improving outcomes. Use of high throughput sequencing by clinical laboratories has generated opportunities and challenges in data analysis resulting in the emergence of a laboratory role termed Variant Scientist. The aim of this study was to characterize this laboratory role. We developed a thirty-item survey to collect information describing the current demographic landscape, salary ranges, work enviro...

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

08.10.2025 06:19 — 👍 1 🔁 2 💬 0 📌 0

#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

07.10.2025 12:05 — 👍 1 🔁 2 💬 0 📌 0

#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

07.10.2025 06:42 — 👍 1 🔁 2 💬 0 📌 0

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...

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

06.10.2025 06:18 — 👍 0 🔁 1 💬 0 📌 0

The Journal of Molecular Diagnostics

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