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Clinical Evaluation of an AI System for Streamlined Variant Interpretation in Genetic Testing
J Ruzicka, JM Ravel, J Audoux, A Boulat, J Thévenon… - medRxiv, 2025 - medrxiv.org
Background The growing use of whole exome/genome sequencing for diagnosing
hereditary diseases has increased the interpretive workload for clinical laboratories. Efficient …
hereditary diseases has increased the interpretive workload for clinical laboratories. Efficient …
Subsumption, Vectorization, Heat Maps, and Word Clouds Support the Visualization of Orphadata Neurology Phenotypes
Disease phenotypes are characterized by signs (what a physician observes during the
examination of a patient) and symptoms (the complaints of a patient to a physician). Large …
examination of a patient) and symptoms (the complaints of a patient to a physician). Large …