Etiqueta: JMolDiagn
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Single-Molecule Counting for Noninvasive Prenatal Diagnosis of Autosomal Recessive Hearing Loss in at-Risk Families
Identifying the molecular causes of hereditary sensorineural hearing loss is essential for effective prevention and control. Current prenatal diagnostic methods are primarily invasive and carry significant risks. While noninvasive prenatal testing for …
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Evaluation of chimerism testing by next generation sequencing using indel markers: Analytical validation and examples of clinical utilization
Post-transplant engraftment monitoring is essential to assess the risk of complications after allogeneic hematopoietic transplantation such as graft failure and disease relapse. It is based on the analysis of the percentage of chimerism detected in the…
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Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (OLIVE)
Interpretation of somatic variants in clinical oncology requires integration of gene-specific biology, tumor context, and multiple evidence sources. While large language models (LLMs) can assist variant interpretation, concerns remain regarding reprodu…
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Evaluation of Chimerism Testing by Next-Generation Sequencing Using Insertion/Deletion Markers
Post-transplant engraftment monitoring is essential to assess the risk of complications after allogeneic hematopoietic transplantation, such as graft failure and disease relapse. It is based on the analysis of the percentage of chimerism detected in th…
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Clinical-Grade Somatic Variant Interpretation Performance via a Rule-Constrained Large Language Model Framework (Oncology Logic-Informed Variant Evaluator)
Interpretation of somatic variants in clinical oncology requires integration of gene-specific biology, tumor context, and multiple evidence sources. Although large language models (LLMs) can assist variant interpretation, concerns remain regarding repr…
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Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
Lower respiratory tract infections (LRTIs) represent a major cause of morbidity and mortality, particularly among critically ill patients. Rapid molecular diagnostic tests have significantly improved the detection of respiratory pathogens. However, mos…
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Assessment of Multiplex Molecular Tests for Detecting Viral Infections in Lower Respiratory Tract Specimens
Lower respiratory tract (LRT) infections represent a major cause of morbidity and mortality, particularly among critically ill patients. Rapid molecular diagnostic tests have improved the detection of respiratory pathogens; however, most commercial ass…
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Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple Genes
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 guidel…