{"id":"W4377108187","doi":"10.1016/j.gimo.2023.100817","title":"GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome","year":2023,"lang":"en","type":"article","venue":"Genetics in Medicine Open","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Children's Hospital","funders":"Université de Strasbourg; Fondation Jérôme Lejeune","keywords":"Intellectual disability; Citizen journalism; Gerontology; Psychology; Medicine; Sociology; Psychiatry; Computer science; World Wide Web","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":[0.00109506,0.0004693148,0.0005479113,0.002174122,0.0006678808,0.0005650056,0.0004674294,0.0002354418,0.006587245],"category_scores_gemma":[0.004324906,0.000221627,0.0002597448,0.002459073,0.0002447456,0.0002921899,0.001004106,0.0002350038,0.002328665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009160772,"about_ca_system_score_gemma":0.001786018,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01772376,"about_ca_topic_score_gemma":0.02786579,"domain_scores_codex":[0.9991286,0.0002223981,0.0001846809,0.0002304288,0.0001584889,0.00007523068],"domain_scores_gemma":[0.9959914,0.001000548,0.001132002,0.000648127,0.0008480058,0.0003799973],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004134827,0.0001051577,0.94504,0.0003248644,0.000047259,0.001470633,0.001656899,0.0001010584,0.0007223217,0.0002655566,0.01813717,0.03171567],"study_design_scores_gemma":[0.0001188939,0.0002049204,0.950092,0.0002533153,0.00007408169,0.003153163,0.001959522,0.0001682305,0.0007378038,0.0002158565,0.04299489,0.0000273351],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8441709,0.001143535,0.001162522,0.0002185079,0.00004015851,0.001145711,0.1419456,0.0001310152,0.01004193],"genre_scores_gemma":[0.8232411,0.001543648,0.00545119,0.0004615645,0.00007521996,0.003293955,0.1598899,0.0000738575,0.0059696],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01772376,"threshold_uncertainty_score":0.03524119,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03165008061682627,"score_gpt":0.3043841572463657,"score_spread":0.2727340766295395,"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."}}