{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.004984892,0.00164127,0.001370297,0.006330433,0.001794056,0.002359709,0.00295344,0.001916577,0.002620553],"category_scores_gemma":[0.009555883,0.0008490026,0.001076879,0.001579009,0.001764071,0.00538597,0.00518321,0.007624636,0.002001634],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002483869,"about_ca_system_score_gemma":0.003904949,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005753653,"about_ca_topic_score_gemma":0.006143389,"domain_scores_codex":[0.996995,0.0009800043,0.0004109497,0.0005275076,0.0008377115,0.0002488448],"domain_scores_gemma":[0.9952943,0.001104675,0.0002842767,0.0002215429,0.002571679,0.0005234774],"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":[0.0003256451,0.0003652542,0.07063328,0.001440745,0.0002705838,0.05381015,0.003579848,0.00302814,0.006659262,0.04424098,0.1458894,0.6697567],"study_design_scores_gemma":[0.0002179978,0.0005997928,0.0263551,0.006399916,0.0004483162,0.3291222,0.008384022,0.01603432,0.005023958,0.1901738,0.4167412,0.00049945],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.04756091,0.1326071,0.5425193,0.2062706,0.009005588,0.002711773,0.001037308,0.003145726,0.05514175],"genre_scores_gemma":[0.2510372,0.1638991,0.5048596,0.04467201,0.01332515,0.001388696,0.002290937,0.0005462695,0.01798094],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.006330433,"threshold_uncertainty_score":0.0263629,"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."}}