Etiqueta: JMolDiagn
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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…
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Optical Genome Mapping versus Whole-Genome Sequencing in the Clinical Diagnosis of Gynecological Mesenchymal Tumors
Optical genome mapping (OGM) enables high-resolution detection of structural variants (SVs) and copy number aberrations (CNAs) using ultra-long DNA molecules and minimal bioinformatics processing. Its diagnostic utility in solid tumors remains underexp…
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Prediction of lung metastasis in breast cancer patients using machine learning classifiers
Breast cancer is the most common cancer among women, and metastasis to the lung is associated with poor prognosis. Reliable biomarkers for predicting lung metastasis are urgently needed to improve early detection and clinical decision-making. This stud…
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Functional analysis of four splice site variants, including a novel variant, on antigen expression and ABO subgroup formation
Splice site variants within the ABO gene have the potential to impair ABO glycosyltransferase biosynthesis, leading to decreased expression of A or B antigens on the surface of red blood cells. This study characterized how four intron 6 splice site var…
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A More Clinically Effective Long-read Sequencing-based Approach for Comprehensive Analysis of Spinal Muscular Atrophy
Conventional methods for spinal muscular atrophy (SMA) screening have been challenging in detecting SMN1/2 single-nucleotide variants (SNVs) and small insertions and deletions (indels), SMN1 2+0 silent carrier, and the copy number (CN) of SMN2. To addr…