{"id":"W2149530907","doi":"10.1186/1750-1172-7-47","title":"The treatable intellectual disability APP www.treatable-id.org: A digital tool to enhance diagnosis &amp; care for rare diseases","year":2012,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Stichting Metakids","keywords":"Intellectual disability; Medicine; Disease; Population; Protocol (science); MEDLINE; Newborn screening; Rare disease; Pediatrics; Bioinformatics; Intensive care medicine; Pathology; Alternative medicine; Psychiatry; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001228693,0.0004085365,0.0004386552,0.00005581817,0.0004633218,0.0002584013,0.0006035338,0.000106484,0.0001534432],"category_scores_gemma":[0.002008175,0.0002846868,0.0005657889,0.0001619584,0.0002076041,0.00007810122,0.0002428409,0.000103885,0.00004216492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009951163,"about_ca_system_score_gemma":0.0002845974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001395205,"about_ca_topic_score_gemma":0.00005516287,"domain_scores_codex":[0.9978759,0.00008812975,0.0005739244,0.0004093197,0.0003309135,0.0007218415],"domain_scores_gemma":[0.9974298,0.0004171313,0.0002836603,0.0006605036,0.0004273571,0.0007814852],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.009173366,0.004194797,0.5399358,0.0007451141,0.00145116,0.00006952049,0.00145253,0.000439707,0.004689318,0.00005728064,0.335641,0.1021504],"study_design_scores_gemma":[0.0009657909,0.0007425914,0.0131908,0.0001226163,0.0006123505,0.00008825518,0.002422474,0.000003467287,0.008770553,0.00007297194,0.9723423,0.0006658771],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9376326,0.0531393,0.0003958875,0.0002633737,0.0006989192,0.0006953331,0.007079813,0.00002038612,0.00007440436],"genre_scores_gemma":[0.9938158,0.00149267,0.0001453541,0.0002214824,0.001385833,0.0002252196,0.00164596,0.00006246665,0.001005182],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6367012,"threshold_uncertainty_score":0.9999605,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01004930608566884,"score_gpt":0.2698528155913371,"score_spread":0.2598035095056682,"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."}}