{"id":"W4365443172","doi":"10.1148/rg.220067","title":"Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis","year":2023,"lang":"en","type":"article","venue":"Radiographics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Karolinska Institutet; Rare Disease Foundation","keywords":"Achondroplasia; Medicine; Dysplasia; Chondrodysplasia punctata; Genetic disorder; Genetic counseling; Osteogenesis imperfecta; Skeletal disorder; Bioinformatics; Pathology; Pediatrics; Genetics; Disease; Osteoporosis; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002736117,0.0001748455,0.0001582638,0.0004810218,0.000119248,0.00003627188,0.00034231,0.0001476761,0.00001154581],"category_scores_gemma":[0.0002369135,0.0001827038,0.0001765738,0.001895055,0.0001133063,0.000003329922,0.0002005721,0.0001347499,0.00008548589],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001098094,"about_ca_system_score_gemma":0.00004768051,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000483115,"about_ca_topic_score_gemma":0.00006081078,"domain_scores_codex":[0.9985119,0.00008181699,0.0001477311,0.0005157651,0.0002792157,0.0004635888],"domain_scores_gemma":[0.9991575,0.00004346258,0.00002397813,0.0004884673,0.00009817418,0.0001883428],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003174108,0.001341016,0.4467941,0.0004385818,0.001305743,0.00008442478,0.002531659,0.001543471,0.1724397,0.004571577,0.2865858,0.08204649],"study_design_scores_gemma":[0.001967806,0.00129724,0.1344755,0.00003866835,0.00006469642,0.00003305301,0.002978188,0.001323467,0.01958473,0.0003895871,0.8365821,0.001265034],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9916272,0.0008707956,0.001479301,0.0003445644,0.0001082393,0.000560021,0.00005782487,0.00008848479,0.004863551],"genre_scores_gemma":[0.995631,0.002201639,0.0004563352,0.0001699837,0.0001405629,0.0004846975,0.0002567259,0.00004811641,0.0006108769],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5499963,"threshold_uncertainty_score":0.7450445,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02008641970725758,"score_gpt":0.2901548731303887,"score_spread":0.2700684534231311,"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."}}