{"id":"W4404643996","doi":"10.1186/s13023-024-03445-x","title":"A Natural History Study of Timothy Syndrome","year":2024,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Long QT syndrome; Medicine; Disease; Syndactyly; Natural history; Pediatrics; Hypoglycemia; Internal medicine; Bioinformatics; Biology; Surgery; QT interval","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":[0.0002492983,0.0002615878,0.0002304283,0.00139764,0.0009577227,0.0004212198,0.0002772697,0.0004347439,0.002878553],"category_scores_gemma":[0.002057813,0.0001550915,0.0001896425,0.0008968146,0.000365686,0.0005133606,0.0004914362,0.0004072222,0.0003878606],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004162863,"about_ca_system_score_gemma":0.0004144054,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002923866,"about_ca_topic_score_gemma":0.002135315,"domain_scores_codex":[0.999712,0.0000569232,0.00002246467,0.00007402495,0.00007395155,0.00006045417],"domain_scores_gemma":[0.9990388,0.0001871433,0.0002356329,0.00005378308,0.0001369477,0.0003476369],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001720498,0.0001591181,0.9462591,0.00002700016,0.00001250532,0.04443863,0.001597851,0.00004336245,0.002044786,0.000317682,0.0005837223,0.004344188],"study_design_scores_gemma":[0.00001292342,0.000417246,0.8572826,0.0000289437,0.00002348228,0.1372791,0.001824822,0.0002503036,0.0002498404,0.0002516374,0.002363053,0.00001603261],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995899,0.0003210159,0.0001069491,0.0001233802,0.00001280886,0.00003210553,0.0001809706,0.00000585215,0.003317887],"genre_scores_gemma":[0.9990676,0.0001992471,0.0001100257,0.0000990598,0.00002896793,0.00001298095,0.0001527201,0.00000341007,0.0003260316],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002923866,"threshold_uncertainty_score":0.009629726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007288262662176276,"score_gpt":0.2328315276835399,"score_spread":0.2255432650213636,"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."}}