{"id":"W2090081239","doi":"10.1038/ejhg.2013.137","title":"Dysmorphology at a distance: results of a web-based diagnostic service","year":2013,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":false,"ca_institutions":"Health Sciences Centre","funders":"Manchester Biomedical Research Centre; European Commission","keywords":"Medical diagnosis; Medicine; European commission; Genetic testing; Agency (philosophy); Family medicine; Service (business); Set (abstract data type); Medical physics; Pathology; Computer science; European union; Business","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":[0.001181247,0.0006303284,0.0005940438,0.001949984,0.0004888948,0.0008888202,0.0006170627,0.00111837,0.012938],"category_scores_gemma":[0.005241307,0.0001645158,0.0006379219,0.0009298686,0.0002570459,0.000576021,0.001225924,0.0005176823,0.005682223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007477333,"about_ca_system_score_gemma":0.001000892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01230425,"about_ca_topic_score_gemma":0.006497915,"domain_scores_codex":[0.9988139,0.0002837297,0.0001330895,0.0001827675,0.0004390047,0.0001475107],"domain_scores_gemma":[0.9956405,0.001498465,0.0001855742,0.000311266,0.001440577,0.0009235523],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.007480979,0.005898472,0.4837564,0.0005218438,0.0003067919,0.01435547,0.002681958,0.002257585,0.02190687,0.0005888459,0.03034887,0.4298958],"study_design_scores_gemma":[0.002261518,0.004374303,0.8226268,0.00028622,0.001083232,0.02476513,0.003857265,0.0426454,0.0491111,0.001755014,0.04686642,0.0003675695],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9692168,0.0005693089,0.00558726,0.001288811,0.0001380628,0.0007483984,0.009682234,0.002208651,0.01056059],"genre_scores_gemma":[0.9656443,0.0006358014,0.01670821,0.0006704819,0.0001449069,0.000280294,0.00829964,0.0005582207,0.007058082],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.012938,"threshold_uncertainty_score":0.04328191,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01007443775183327,"score_gpt":0.2243968694004907,"score_spread":0.2143224316486574,"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."}}