Etiqueta: JMolDiagn
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Validation of the SOPHiA DDM HRD Solution as a Companion Diagnostic for PARPi Access in Australia
In this multi-laboratory validation study of 145 ovarian cancer samples, the SOPHiA DDM HRD Solution was compared with the regulatory-approved Myriad myChoice HRD assay to assess clinical comparability for Class 3 in-house in vitro diagnostic medical d…
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Allele, Diplotype and Phenotype Frequency Distribution of CYP2B6, CYP2C19 and CYP2D6 in Han Population in North China
This large-scale retrospective study investigated the allele, diplotype, and phenotype frequencies of CYP2B6, CYP2C19, and CYP2D6 in a Han Chinese population (N>10,000), using real-world genetic data from the First Hospital of Hebei Medical University,…
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Dideoxy sequencing enhances detection of KIT mutations in GISTs initially evaluated by NGS hotspot panels
GISTs are predominantly characterized by mutations in KIT or PDGFRA. Mutation detection is important for optimal therapy. NGS panels are useful in GIST assessment as they allow for simultaneous evaluation of multiple genes. However, inherent to use of …
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Piloting an Interpretive External Quality Assurance Model for Genomic Testing for Childhood Syndromes and Intellectual Disability
Few external quality assurance programs adequately address the complexity of large-scale human genome or exome analysis. To bridge this gap, Australian Genomics and the Royal College of Pathologists Australasia Quality Assurance Program (QAP) developed…
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Development and Clinical Validation of OncCNV: A Pipeline for Comprehensive Genome-Wide Analysis of Oncogene Amplifications, Homozygous Deletions, and Biallelic Inactivation of Tumor Suppressor Genes Using the TSO500 Kit
Large-scale tumor molecular profiling has enabled the discovery of novel diagnostic, prognostic, and therapeutic biomarkers, while expanding the clinical utility of known alterations such as gene amplifications (GAMP), homozygous deletions (HMZ-Del), a…
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Enhanced Detection of EGFRvIII in Tumors: A Comparative Study of Split Read and Read Depth-Based DNA Sequencing Approaches
Epidermal Growth Factor Receptor variant III (EGFRvIII), a common oncogenic variant in glioblastoma (GBM) and other solid tumors, results from an in-frame deletion of exons 2–7 in the EGFR gene. Detection of EGFRvIII is crucial for understanding tumor …
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Towards Comprehensive Detection of the SMN1/2 Genotypes: Potential of Long-Read Sequencing in Routine SMA Genetic Testing
Spinal muscular atrophy [SMA; Online Mendelian Inheritance in Man (OMIM), https://omim.org/entry/253300, last accessed 11/19/2025)] is a genetic disorder characterized by progressive muscle weakness due to degeneration of motor neurons in the spinal co…
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Highly Sensitive Detection of Donor Chimerism by Next-Generation Sequencing
Donor chimerism analysis is used for monitoring engraftment status and risk of disease relapse following allogeneic stem cell transplantation. Recently developed assays using next generation sequencing (NGS) have demonstrated enhanced sensitivity and a…