{"id":"W2005611432","doi":"10.1038/ejhg.2013.132","title":"Clinical utility gene card for: Beckwith–Wiedemann Syndrome","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":70,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Institute of General Medical Sciences; Instituto de Salud Carlos III; Agence Nationale de la Recherche; Assistance publique-Hôpitaux de Paris; Bundesministerium für Bildung und Forschung; Institut National de la Santé et de la Recherche Médicale; Action Medical Research","keywords":"Beckwith–Wiedemann syndrome; Genetics; Gene; Medicine; Biology; Computational biology; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003451713,0.001027307,0.0004717476,0.00215232,0.0004274108,0.001051591,0.0005548029,0.001701979,0.01294831],"category_scores_gemma":[0.003443426,0.0001758542,0.0002909065,0.0006642127,0.0005089981,0.000661356,0.0005580095,0.000697229,0.003393165],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003377792,"about_ca_system_score_gemma":0.0007117243,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001060252,"about_ca_topic_score_gemma":0.0008881121,"domain_scores_codex":[0.999679,0.00006293967,0.00004027021,0.00007895728,0.00008781976,0.00005102136],"domain_scores_gemma":[0.999143,0.000315012,0.00007918205,0.00007566594,0.0001776228,0.0002095051],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0009871627,0.0002053497,0.2192517,0.0003900582,0.00007142503,0.4093483,0.0003928409,0.0006971144,0.04266348,0.007199155,0.04546309,0.2733304],"study_design_scores_gemma":[0.0001454153,0.0002658986,0.1106546,0.0004805467,0.0001647163,0.7639507,0.0006434836,0.003425136,0.02391844,0.01021529,0.08604719,0.00008857976],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.7835254,0.01782289,0.01932584,0.02709253,0.003075351,0.0004226631,0.004401357,0.00162482,0.1427092],"genre_scores_gemma":[0.969906,0.003986117,0.0115362,0.00195725,0.0007891812,0.00005951127,0.001408151,0.000151504,0.01020603],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01294831,"threshold_uncertainty_score":0.04331636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.038195041901473,"score_gpt":0.3009586668574965,"score_spread":0.2627636249560235,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}