{"id":"W4389438474","doi":"10.1212/wnl.90.15_supplement.p1.141","title":"Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC) (P1.141)","year":2018,"lang":"en","type":"article","venue":"Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Disease; Phenotype; Mitochondrial disease; Clinical phenotype; Mitochondrial DNA; Medicine; Mitochondrion; Biology; Genetics; Pathology; Gene","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":[0.0002763478,0.0002593899,0.0003130232,0.00070496,0.0008115441,0.000436082,0.0002913595,0.0003556852,0.003152602],"category_scores_gemma":[0.001250803,0.0001436645,0.0002094365,0.0009991818,0.0002066277,0.0003744746,0.0004469642,0.0003728321,0.0007539389],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002595682,"about_ca_system_score_gemma":0.000185069,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002897555,"about_ca_topic_score_gemma":0.003547469,"domain_scores_codex":[0.9997059,0.00004454056,0.00005259499,0.0000847818,0.00006588572,0.00004633668],"domain_scores_gemma":[0.9994488,0.00009440596,0.0001773386,0.00003988101,0.00008685547,0.0001527726],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003391921,0.00008589831,0.9918502,0.000009976362,0.00002950156,0.001806974,0.0001821324,0.00006849449,0.001299467,0.00008135659,0.000957026,0.003289777],"study_design_scores_gemma":[0.00003272889,0.0001048613,0.9914896,0.000009994131,0.00002249059,0.006622953,0.0002647401,0.000119853,0.0002566871,0.00009871945,0.0009697009,0.000007645036],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970574,0.00009734562,0.00007671747,0.00005451104,0.000009550198,0.00001153533,0.001299659,0.000005334652,0.001387939],"genre_scores_gemma":[0.9965556,0.00007187152,0.0001306541,0.00007413854,0.0000135894,0.00002307005,0.002555397,0.00000809974,0.000567795],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003152602,"threshold_uncertainty_score":0.01054651,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007841073089860063,"score_gpt":0.2320416812539074,"score_spread":0.2242006081640474,"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."}}