{"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 & 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002053981,0.0009326973,0.0009794683,0.005205166,0.0004916633,0.002814741,0.00104445,0.001985246,0.1974089],"category_scores_gemma":[0.01615625,0.0004252718,0.001276363,0.0028614,0.0002414019,0.003239318,0.003573561,0.001284878,0.06738002],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007429032,"about_ca_system_score_gemma":0.001609304,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001288384,"about_ca_topic_score_gemma":0.004663038,"domain_scores_codex":[0.9989686,0.0003358005,0.000196877,0.00008192469,0.0003296764,0.00008720705],"domain_scores_gemma":[0.9830613,0.01161856,0.002079728,0.0005230909,0.001529469,0.001187899],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002180227,0.00006192774,0.001030426,0.004318647,0.00007338478,0.0002413125,0.0001969862,0.0000744059,0.0002791335,0.0008042853,0.764035,0.2286665],"study_design_scores_gemma":[0.0004929441,0.0001397232,0.00774575,0.005013821,0.0002224159,0.001259162,0.0003136438,0.0003716455,0.0007107635,0.00399419,0.979638,0.00009782617],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"software","genre_scores_codex":[0.01795963,0.03338499,0.03094392,0.0510427,0.005281916,0.005107232,0.481399,0.09212408,0.2827565],"genre_scores_gemma":[0.0848223,0.05828497,0.265413,0.05741752,0.01114329,0.01422528,0.2758617,0.01331793,0.2195141],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.1974089,"threshold_uncertainty_score":0.6603985,"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."}}