Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory
Linyan Meng, Ruben Attali, Tomer Talmy, Yakir Regev, Niv Mizrahi, Pola Smirin‐Yosef, Liesbeth Vossaert, Christian Taborda, Michael Santana, Ido Machol, Rui Xiao, Hongzheng Dai, Christine M. Eng, Fan Xia, Shay Tzur
Topics & Concepts
Exome sequencingExomePrecision medicineProbandWorkflowWhole genome sequencingArtificial intelligenceMedical geneticsComputational biologyComputer scienceMedicineMachine learningBioinformaticsGeneticsGenomePhenotypeMutationBiologyPathologyGeneDatabaseGenomics and Rare DiseasesGenetic Associations and EpidemiologyBiomedical Text Mining and Ontologies