Continuous Bayesian variant interpretation accounts for incomplete penetrance among Mendelian cardiac channelopathies
Matthew J. O’Neill, Luca Sala, Isabelle Denjoy, Yuko Wada, Krystian A. Kozek, Lia Crotti, Federica Dagradi, Maria‐Christina Kotta, Carla Spazzolini, Antoine Leenhardt, Joe‐Elie Salem, Asami Kashiwa, Seiko Ohno, Ran Tao, Dan M. Roden, Minoru Horie, Fabrice Extramiana, Peter J. Schwartz, Brett M. Kroncke
Topics & Concepts
PenetranceMendelian inheritanceMedicineInterpretation (philosophy)Bayesian probabilityGeneticsComputational biologyBioinformaticsComputer scienceBiologyArtificial intelligencePhenotypeGeneProgramming languageCardiac electrophysiology and arrhythmiasGenomics and Rare DiseasesCongenital heart defects research