Etiqueta: JMolDiagn

Reliable quantification of cell-free DNA (cfDNA) in liquid biopsy diagnostics critically depends on unbiased and reproducible isolation workflows. Fragment-length-dependent recovery during isolation represents a major source of pre-analytical bias. Thi…

Accurate and reproducible interpretation of somatic variants is fundamental for therapy decision-making in cancer patients. To harmonise and automate oncogenicity classification, Oncogenicity Variant Interpreter (OncoVI), an open-source, Python-based i…

Pediatric HIV-1 viral load monitoring is often limited by the small blood volumes that can be safely obtained from infants and young children. Standard assays typically require 0.5–0.7 mL of plasma, which can pose challenges in these settings. This stu…

Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may m…

Bile duct brushings are non-invasive sampling of cells from the biliary tract for cytological evaluation and are useful to diagnose pancreaticobiliary malignancies. Although specificity of cytology is satisfactory, sensitivity is inherently low due to …

The Editors gratefully acknowledge the generous assistance of the following reviewers who served The Journal of Molecular Diagnostics between January 1 and December 31, 2025.

High failure rates in targeted capture sequencing of solid tumors—especially from formalin-fixed, paraffin-embedded samples—limit the clinical application of next-generation sequencing. Current wet-laboratory quality control (QC) relies on rigid, prede…

The Idylla GeneFusion Assay (Biocartis) detects gene fusions with fusion-specific and expression imbalance methods. The purpose of this study was to evaluate the diagnostic utility of detecting fusions with expression imbalance alone in non-small cell …