{"id":"W4376108833","doi":"10.1038/s41431-023-01338-4","title":"Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Life Science Center for Survival Dynamics Tsukuba Advanced Research Alliance; Japan Society for the Promotion of Science; National Health and Medical Research Council; Directorate for Biological Sciences; National Institutes of Health; Centre Léon Bérard; Sorbonne Université; Berlin Institute of Health; Centro de Investigación Biomédica en Red de Cáncer; Université de Lyon; Sapienza Università di Roma; Assistance publique-Hôpitaux de Paris; Universität Duisburg-Essen; Rheinische Friedrich-Wilhelms-Universität Bonn; Deutsche Forschungsgemeinschaft; Technische Universität München; European Commission; Università di Bologna; Leids Universitair Medisch Centrum; Università degli Studi di Palermo; Vrije Universiteit Amsterdam; Pomorski Uniwersytet Medyczny W Szczecinie; Centre National de la Recherche Scientifique; Universitätsklinikum Hamburg-Eppendorf; Waseda University; Science and Technology Development Fund; Westfälische Wilhelms-Universität Münster; Odense Universitetshospital; Centre Hospitalier Universitaire de Québec; University of Tsukuba; QIMR Berghofer Medical Research Institute; Amsterdam University Medical Centers; Norges Forskningsråd; Eidgenössische Technische Hochschule Zürich; Università Degli Studi di Modena e Reggio Emila; Eberhard Karls Universität Tübingen; Universiteit Leiden; Japan Agency for Medical Research and Development; Ospedale Pediatrico Bambino Gesù; Universitätsklinikum Essen; Albert-Ludwigs-Universität Freiburg; Eesti Teadusagentuur; Centre Hospitalier Universitaire Vaudois; Istituto Superiore di Sanità; Perelman School of Medicine, University of Pennsylvania; Universitätsmedizin Göttingen; Strong; KU Leuven; Universität Basel; Philipps-Universität Marburg; University of Pennsylvania; Università degli Studi di Siena; Université Laval; Institut National de la Santé et de la Recherche Médicale; Université de Bourgogne; Medizinische Fakultät der Albert-Ludwigs-Universität Freiburg; Saha Cardiovascular Research Center, University of Kentucky","keywords":"Genetics; Human genetics; Biology; Computational biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00107034,0.0002732045,0.0002866469,0.00005386834,0.0002319166,0.0001143452,0.0009940693,0.00004520593,0.00005279473],"category_scores_gemma":[0.00005774016,0.000230455,0.0003598977,0.0001041077,0.0002883627,0.000004857612,0.0004556664,0.0003034568,0.00003555956],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002035096,"about_ca_system_score_gemma":0.0001192986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000713889,"about_ca_topic_score_gemma":0.00001696487,"domain_scores_codex":[0.9976893,0.0003545968,0.000965688,0.0002979704,0.0003481862,0.0003442769],"domain_scores_gemma":[0.9979269,0.00005069478,0.000818949,0.0006418964,0.0003784992,0.0001830491],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00004617801,0.0001093814,0.006940247,0.00002888391,0.0003403784,0.0001464781,0.001400862,0.002463829,0.879138,0.00002592218,0.1050138,0.004346087],"study_design_scores_gemma":[0.004482251,0.004614042,0.4703161,0.0002907905,0.0005008648,0.000155382,0.002512412,0.0002210896,0.3744075,0.0005078366,0.140813,0.001178692],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933394,0.001722095,0.0003104603,0.0002672453,0.0003929034,0.0001246675,0.0001691864,0.0000113566,0.00366266],"genre_scores_gemma":[0.9936995,0.002862571,0.0007656954,0.0005463728,0.00150891,4.969122e-7,0.0001788318,0.0001028268,0.0003348303],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5047305,"threshold_uncertainty_score":0.9397681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03003453959814447,"score_gpt":0.2634139560599046,"score_spread":0.2333794164617602,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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