#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

#ArticleinPress: Evaluation of Atypical FISH Findings by RNA Sequencing. From @ampath.bsky.social member K. Geiersbach and colleagues from @mayoclinic.org https://www.jmdjournal.org/article/S1525-1578(25)00197-7/fulltext

#LegacyContent: Improved genetic characterization of congenital adrenal hyperplasia by long-read sequencing compared with multiplex ligation-dependent probe amplification plus Sanger sequencing Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00129-6/fulltext

Value of molecular autopsy in suspected sudden cardiac death in the young. @univgirona.bsky.social Full text: https://www.jmdjournal.org/article/S1525-1578(25)00140-0/fulltext

#LegacyContent: Genotype and Phenotype Correlation of Patients with #OsteogenesisImperfecta. Free in the #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00153-3/fulltext

Clinical performance evaluation of a tiling amplicon panel for whole genome sequencing of respiratory syncytial virus. @uwmedicine.bsky.social @fredhutch.bsky.social Full text: https://loom.ly/p8p9EEs

#LegacyContent: Advances in host depletion and pathogen enrichment methods for rapid sequencing-based diagnosis of bloodstream infection. Authors from @uofglasgow.bsky.social #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00128-4/fulltext

Comparison of the Mutational Profile between BCL2- and BCL6-Rearrangement Positive Follicular Lymphoma. @cniostopcancer.bsky.social @idibaps.bsky.social Full text: https://loom.ly/U7X9p0g

#LegacyContent: Analytical Validation of the Multitarget Stool RNA Test for Colorectal Cancer Screening. Authors from @washumedicine.bsky.social Full #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00100-4/fulltext

#ArticleinPress: Two-dimensional polymerase chain reaction for identifying the HLA alleles associated with adverse drug reactions. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00196-5/fulltext

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

#ArticleinPress: 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

Morphological Bone Score as a Predictive Tool for Molecular Profiling Success. #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00137-0/fulltext

Consider @jmdiagn.bsky.social for your next manuscript containing diagnostic advances in #solidtumor, #genetics, #informatics, #infectiousdisease, or #hematopathology Submission is free: https://www.editorialmanager.com/jmdi/default2.aspx

#ArticleinPress: 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

#ArticleinPress: 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

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

#LegacyContent: Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia. #OpenArchive: https://www.jmdjournal.org/article/S1525-1578(24)00102-8/fulltext

📣TODAY: Join our free webinar at 3 p.m. Eastern to learn new strategies for teaching and communicating with pathology trainees from a range of backgrounds (and with different learning preferences). #ScienceEducation #MolecularPathology 🔗us06web.zoom.us/meet...

Guest Editorial: Standardizing Laboratory Practices in Pharmacogenomics (STRIPE) Consensus Conference: Report from the Laboratory Challenges Working Group https://www.jmdjournal.org/article/S1525-1578(25)00115-1/fulltext

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

#LegacyContent Open-source bioinformatic pipeline to improve PMS2 genetic testing using short-read NGS data. Authors from @isciiisalud.bsky.social #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00118-1/fulltext

Smart non-uniformity: Calibration of sequencing depth of a targeted gene panel to simultaneously detect somatic and germline variants. Authors from @monashuniversity.bsky.social. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00117-5/fulltext

#LegacyContent: Recommendations for Tumor Mutational Burden Assay Validation and Reporting: A Joint Consensus Recommendation of the @ampath.bsky.social, @pathologists.bsky.social https://loom.ly/5ZvWjRw

#ArticleinPress: 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

Consider @JMDiagn for your next manuscript in #moldx and #molpath. We consider papers looking to improve diagnosis of #genetic conditions, #infectiousdisease, #hemathopathology disorders, #solidtumor, and healthcare #informatics. Submission is free: https://loom.ly/LylFFhM

Leveraging RNA from DNA Extraction Lysate to Rescue 'Insufficient' Samples for More Comprehensive Genomic Profiling in Patients with Scant Tumor Specimens. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00114-X/fulltext

Accuracy of Cobas MTB and MTB-RIF/INH for detection of M. tuberculosis and drug resistance. @fzborstel.bsky.social #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00117-X/fulltext

Analytical performance of the NCI-myeloMATCH assay – a rapid turnaround genomic profiling assay for myeloid disorders. Authors from @fredhutch.bsky.social. Full text: https://www.jmdjournal.org/article/S1525-1578(25)00116-3/fulltext

Performance Evaluation of a Commercial Automated Library Preparation System for Clinical Microbial Whole-Genome Sequencing Assays. @dgsomucla.bsky.social #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(24)00119-3/fulltext#OpenAccess

Implementation of a High-Accuracy Targeted Gene Expression Panel for Clinical Care. From @AMPath member author Dr. Teresa Boyle and colleagues from Full text: https://www.jmdjournal.org/article/S1525-1578(24)00101-6/fulltext

#ArticleinPress: 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: 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

#ArticleinPress: Micro-costing Study of Genomic Profiling for Precision Cancer Medicine: Application from the National Infrastructure for Precision Diagnostics in Norway. @uio.no #OpenAccess text: https://www.jmdjournal.org/article/S1525-1578(25)00171-0/fulltext

The August issue of @jmdiagn.bsky.social is now live online! Full issue: https://www.jmdjournal.org/issue/S1525-1578(24)X0010-0 #germline #genomicprofiling #mutation #

#ArticleinPress: A Systematic, Evidence-Based Workflow for Classifying KMT2A Fusions in AML. Full text: www.jmdjournal.org/article/S152...

#ArticleinPress: FoundationOne CDx and FoundationOne Heme Detect Epstein-Barr Virus with High Sensitivity and Specificity. Authors from the @broadinstitute.org #OpenAccess text: www.jmdjournal.org/article/S152...

Include a set of Key Points with your next submission to @jmdiagn.bsky.social! https://www.editorialmanager.com/jmdi/default2.aspx

#ArticleinPress: Survey of Demographics, Training, Duties, and Professional Development for Variant Scientists in Genomic Medicine. #OpenAccess text: www.jmdjournal.org/article/S152...