{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002738025,0.0001501053,0.0001937644,0.00006304734,0.00006986465,0.00001965164,0.000393414,0.0000392347,0.00007595993],"category_scores_gemma":[0.0001517796,0.0001306028,0.0001387202,0.00006559483,0.00009998264,0.000002419949,0.0001404834,0.00008789172,0.0000379328],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001396674,"about_ca_system_score_gemma":0.00008484668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003363364,"about_ca_topic_score_gemma":0.00001858149,"domain_scores_codex":[0.9986474,0.0002252953,0.0006055282,0.0001799746,0.0001472097,0.0001946074],"domain_scores_gemma":[0.9984973,0.00003789953,0.0005256383,0.0003579868,0.0004278151,0.0001533369],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002290337,0.0002194382,0.004561622,0.0000564161,0.00009105248,0.0002180305,0.0001149876,0.001314631,0.9672635,0.000009081266,0.02497742,0.0009447813],"study_design_scores_gemma":[0.01895715,0.009362921,0.4233164,0.000356446,0.000436832,0.0007457357,0.0003844324,0.0003954127,0.3155253,0.0002186576,0.2290158,0.001284826],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957725,0.002163689,0.0001795029,0.0001894239,0.0001451757,0.000105267,0.00006220058,0.000003044727,0.001379173],"genre_scores_gemma":[0.9980862,0.0002160794,0.0007054545,0.000422574,0.0002464412,0.000001319509,0.00005868524,0.00003792943,0.0002252875],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6517382,"threshold_uncertainty_score":0.5325827,"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."}}