The Journal of Molecular Diagnostics

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies. Authors from @upv.es and @ciberisciii.bsky.social

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00309-5/fulltext

Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population Consanguinity, prevalent in certain populations because of cultural and social factors, significantly increases the risk of genetic autosomal recessive disorders. In Lebanon, consanguineous marriages ...

#LegacyContent: Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.

Free in the #OpenArchive: www.jmdjournal.org/article/S152...

Dideoxy Sequencing Enhances Detection of KIT Mutations in Gastrointestinal Stromal Tumors Initially Evaluated by Next-Generation Sequencing Hotspot Panels. Authors from @unmc.bsky.social

Full text: https://loom.ly/Dc7T5Kg

Development and Validation of a Rapid Point-of-Care CYP2C19 Genotyping Platform Pharmacogenetic-guided prescribing can lead to more accurate medicine selection and dosing, improving patient outcomes and leading to better use of health care budgets. Loss-of-function variants in CY...

#LegacyContent: Development and validation of a rapid point of care CYP2C19 genotyping platform.

#OpenAccess text: www.jmdjournal.org/article/S152...

The March 2026 issue of @jmdiagn.bsky.social is now live!

Full issue: https://www.jmdjournal.org/issue/S1525-1578(25)X0004-0

#NextGenSeq #Oncogene #CompanionDiagnostics

#ArticleinPress: Technical Validation and Prospective Clinical Utility of Optical Genome Mapping in Acute Leukemia Workup: Insights from 200 Cases following Deployment as a First-Line Diagnostic Test in a Tertiary Care Center

Full text: https://loom.ly/Drt4C5g

Highly Sensitive Detection of Donor Chimerism by Next-Generation Sequencing. Authors from @monteeinsteinpath.bsky.social.

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00292-2/fulltext

Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecologic Mesenchymal Tumors. Authors from @ki.se and @cityofhope.bsky.social

#OpenAccess text: https://loom.ly/t6ieGJw

Enhanced Detection of EGFRvIII in Tumors: A Comparative Study of Split Read– and Read Depth–Based DNA Sequencing Approaches

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00290-9/fulltext

Updates on the Clinical Epidemiology of HIV-1 Group O Strains in Cameroon and Potential Implications on Diagnosis and Treatment Strategies

#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00279-X/fulltext

Prediction of Lung Metastasis in Breast Cancer Patients Using Machine Learning Classifiers

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00288-0/fulltext

Webinar announcement on monitoring patients treated with menin inhibitors for acute leukemia, featuring experts from MD Anderson and University of Minnesota.

Menin inhibitors target some subtypes of acute leukemia, making accurate molecular characterization key in strong treatment planning.
Learn how molecular pathologists help guide their use at our FREE webinar on March 16 at noon ET.
https://educate.amp.org/local/catalog/view/product.php?productid=591

Analytical and Clinical Validation of the Plasma-Based Guardant360 CDx Test for Assessing HER2 (ERBB2) Mutation Status in Patients with Non–Small-Cell Lung Cancer for Treatment with Trastuzumab Deruxt... This study demonstrates the analytical and clinical validity of the approved (United States and Japan) plasma-based Guardant360 companion diagnostic (CDx) test for selecting patients with human epider...

#LegacyContent: Analytical and Clinical Validation of the Plasma-Based Guardant360 CDx Test for Assessing HER2 (ERBB2) Mutation Status in Patients with Non–Small-Cell Lung Cancer for Treatment with Trastuzumab Deruxtecan in DESTINY-Lung01/02.

#OpenArchive: www.jmdjournal.org/article/S152...

Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers Poly (adenosine diphosphate-ribose) polymerase (PARP) inhibitors represent a significant advancement in the treatment of epithelial ovarian cancer, triple-negative breast cancer, pancreatic cancer, an...

#LegacyContent: Validation and Performance of Quantitative BRCA1 and RAD51C Promoter Hypermethylation Testing in Breast and Ovarian Cancers.

#OpenArchive: www.jmdjournal.org/article/S152...

A More Clinically Effective Long-Read Sequencing–Based Approach for Comprehensive Analysis of Spinal Muscular Atrophy

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00280-6/fulltext

Functional Analysis of Four Splice-Site Variants, including a Novel Variant, on Antigen Expression and ABO Subgroup Formation

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00278-8/fulltext

Clinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis.

#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00253-3/fulltext

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

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

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

#ArticleinPress: Updates on the Clinical Epidemiology of HIV-1 Group O Strains in Cameroon and Potential Implications on Diagnosis and Treatment Strategies

#OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00279-X/fulltext

#LegacyContent: SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas.

Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00273-3/fulltext

#ArticleinPress: Functional Analysis of Four Splice-Site Variants, including a Novel Variant, on Antigen Expression and ABO Subgroup Formation

Full text: https://www.jmdjournal.org/article/S1525-1578(25)00278-8/fulltext

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

#LegacyContent: Considerations for Severe Acute Respiratory Syndrome Coronavirus 2 Genomic Surveillance: A Joint Consensus Recommendation of AMP and APHL.

Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00249-6/fulltext

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

#JMDSilver

Charting the Genomic Frontier: 25 Years of Evolution and Future Prospects in Molecular Diagnostics for Solid Tumors. From the @ampath.bsky.social Solid Tumors Subdivision Leadership

Read for free: https://loom.ly/JNva550

Happy New Year from @jmdiagn.bsky.social! Thank you to everyone that worked on the Journal through 2025, we couldn't do it without the authors, reviewers, editors, and staff that help put our publication out every month. We are looking forward to 2026!

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

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