{"id":"W2155445061","doi":"10.1111/j.1399-0004.2006.00653.x","title":"The genotype–phenotype correlation of hereditary multiple exostoses","year":2006,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Bone Tumor Diagnosis and Treatments","field":"Medicine","cited_by":79,"is_retracted":false,"has_abstract":true,"ca_institutions":"Pacific Centre for Reproductive Medicine; BC Children's Hospital; University of British Columbia","funders":"","keywords":"Hereditary multiple exostoses; Phenotype; Genotype; Mutation; Genetics; Genotype-phenotype distinction; Medicine; Disease; Correlation; Gene; Biology; Internal medicine","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":[0.0004315161,0.0005418125,0.0004714765,0.0008820292,0.0003116026,0.0003421765,0.0001772317,0.0004768758,0.003580585],"category_scores_gemma":[0.003859271,0.0002134577,0.0001419229,0.0003655039,0.0003932431,0.0002214305,0.0003772015,0.000318237,0.0002567537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001082733,"about_ca_system_score_gemma":0.00009871348,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002889258,"about_ca_topic_score_gemma":0.0003170964,"domain_scores_codex":[0.9993618,0.0002456816,0.00006727259,0.0001222964,0.0001281399,0.00007471251],"domain_scores_gemma":[0.998076,0.0010248,0.0004779797,0.00008343881,0.0001470027,0.0001908204],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005852769,0.00006858916,0.9651431,0.00003193588,0.00007626745,0.01289637,0.0003041538,0.0002145805,0.01328898,0.0001639782,0.000172856,0.007053848],"study_design_scores_gemma":[0.00002232738,0.0003330202,0.9469804,0.00001658828,0.00004717735,0.04957734,0.0001893954,0.0004338079,0.001760658,0.0002071838,0.000416573,0.0000155064],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989692,0.0001708046,0.000198877,0.00003825922,0.000005030377,0.000003863245,0.00006340877,0.00000452429,0.0005461861],"genre_scores_gemma":[0.9996761,0.00004024568,0.0001004363,0.00001206794,0.000006736974,0.000002418619,0.00004731254,0.000002771642,0.0001117615],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003580585,"threshold_uncertainty_score":0.01197833,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03890278981303228,"score_gpt":0.3302059086748484,"score_spread":0.2913031188618161,"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."}}