{"id":"W2883589653","doi":"10.1186/s13023-018-0860-0","title":"ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison","year":2018,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Neuroscience of respiration and sleep","field":"Neuroscience","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Alberta Children's Hospital; Child and Family Research Institute; University of Alberta; University of Calgary","funders":"Canadian Institutes of Health Research; Alberta Innovates - Health Solutions; BC Children’s Hospital Foundation","keywords":"Proband; Hypoventilation; Medicine; Obesity; Etiology; Disease; Obesity hypoventilation syndrome; Sanger sequencing; Bioinformatics; Candidate gene; Genetic testing; Pediatrics; Genetics; Internal medicine; Biology; Mutation; Gene; Respiratory system","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003351002,0.000466048,0.0004099282,0.002168737,0.0003173076,0.0003830043,0.0003561073,0.0005373901,0.002336285],"category_scores_gemma":[0.001536316,0.0001473993,0.0002193887,0.0009301224,0.0005551919,0.0003864391,0.001011401,0.0003433633,0.0003624066],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001734665,"about_ca_system_score_gemma":0.0002556267,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000687552,"about_ca_topic_score_gemma":0.0005187382,"domain_scores_codex":[0.999558,0.00009139068,0.00005500303,0.0001373463,0.00007322992,0.00008483331],"domain_scores_gemma":[0.999261,0.0002776336,0.0001749701,0.00003873374,0.00005844238,0.000189125],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001945203,0.0003343797,0.8866686,0.0001881601,0.0002388167,0.04749581,0.0009615332,0.000423028,0.02792267,0.001234159,0.0006960294,0.03189154],"study_design_scores_gemma":[0.00008814844,0.0006600241,0.9062374,0.00004203769,0.00006978337,0.08872981,0.000814695,0.000469131,0.001065665,0.0006221415,0.001175329,0.00002600405],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980562,0.0004832024,0.0001915837,0.00004627293,0.000008821696,0.00002302808,0.0002190032,0.000008354875,0.0009635754],"genre_scores_gemma":[0.9981024,0.0004527794,0.0006027343,0.00004602064,0.0000327171,0.00002962525,0.0006101777,0.000005699543,0.0001179082],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002336285,"threshold_uncertainty_score":0.007815659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05513135518064597,"score_gpt":0.3433767189915531,"score_spread":0.2882453638109071,"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."}}