{"id":"W2057391791","doi":"10.1002/ajmg.a.36934","title":"Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification","year":2015,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Helios Education Foundation; Muscular Dystrophy Association","keywords":"Arthrogryposis; Muscle contracture; Identification (biology); Disease; Medicine; Bioinformatics; Biology; Pathology; Surgery","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":[0.0005359011,0.0008475936,0.001448981,0.006451427,0.0002957901,0.0007754198,0.0009421656,0.0007524409,0.006341289],"category_scores_gemma":[0.00146089,0.0003576025,0.0006505663,0.005318576,0.0003515358,0.001533694,0.0006683357,0.0009878192,0.002434462],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005421852,"about_ca_system_score_gemma":0.001342129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001405894,"about_ca_topic_score_gemma":0.002811804,"domain_scores_codex":[0.9996948,0.00005128301,0.00009148805,0.00004821375,0.0000940171,0.0000201932],"domain_scores_gemma":[0.9991782,0.000414417,0.0001396592,0.00001879883,0.0001897757,0.00005907707],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007210631,0.00005443213,0.000354359,0.05048095,0.0002317096,0.0008329391,0.0001134078,0.0002712452,0.001261672,0.002199662,0.1051773,0.8389502],"study_design_scores_gemma":[0.00001730092,0.00006350172,0.001806445,0.01426037,0.0002954734,0.005415727,0.00009047519,0.00005085887,0.0002235193,0.001028074,0.976721,0.0000271547],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00009491236,0.9983758,0.00009790998,0.0002220748,0.0002591024,0.000007051777,0.00005325228,0.00001016241,0.0008798211],"genre_scores_gemma":[0.0004787573,0.9982561,0.0002551354,0.000246152,0.0002262412,0.000007298477,0.00008619179,0.000001828056,0.0004422337],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006451427,"threshold_uncertainty_score":0.02121371,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08367565049187754,"score_gpt":0.4144540930740137,"score_spread":0.3307784425821361,"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."}}