{"id":"W2993480234","doi":"10.1111/cge.13683","title":"<i>COL1</i> ‐related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers‐Danlos syndrome overlap","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"","keywords":"Osteogenesis imperfecta; Ehlers–Danlos syndrome; Procollagen peptidase; Connective tissue; Short stature; Phenotype; Genetics; Biology; Pathology; Medicine; Gene; Endocrinology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001119947,0.0005440792,0.0006776695,0.00008810372,0.0003151832,0.00009331612,0.0009931996,0.0006796293,0.0002966849],"category_scores_gemma":[0.001373294,0.000456942,0.0004297413,0.0005775075,0.0006167167,0.00001386151,0.0009871714,0.0006748742,0.0004407074],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004948726,"about_ca_system_score_gemma":0.0003616138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001280341,"about_ca_topic_score_gemma":0.0003350725,"domain_scores_codex":[0.9956337,0.0005510381,0.001072162,0.001348771,0.0005734465,0.0008209242],"domain_scores_gemma":[0.9966198,0.0007398652,0.0004051857,0.001525656,0.0004300093,0.0002795504],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004383995,0.001282258,0.740119,0.0001231658,0.0009211096,0.00002979059,0.000253163,0.001858491,0.2183647,0.0005489032,0.0008310768,0.0352299],"study_design_scores_gemma":[0.0245389,0.01765787,0.6802748,0.0003221197,0.000736865,0.0005590618,0.007878066,0.0121393,0.04877771,0.00236308,0.199402,0.005350151],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9886395,0.005190355,0.001147197,0.0006761481,0.0007123185,0.002016132,0.0001304188,0.00004894397,0.001438984],"genre_scores_gemma":[0.9954157,0.0008553224,0.0003653591,0.0005510909,0.0002042011,0.0001392361,0.0002121193,0.000143756,0.002113217],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.198571,"threshold_uncertainty_score":0.9997882,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01795554337462572,"score_gpt":0.3268630976906361,"score_spread":0.3089075543160104,"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."}}