Etiqueta: JMolDiagn

Gene-specific variant interpretation guidelines are constantly being published to refine variant classification. The development, implementation, and benefit of such guidelines require careful assessment. This study evaluates the utility of these guide…

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

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…

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 to 0.7 mL of plasma, which can pose challenges in these settings. This …

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 …

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 …