{"id":"W4384626052","doi":"10.1093/hmg/ddad117","title":"COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis","year":2023,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Arthritis and Musculoskeletal and Skin Diseases; National Institutes of Health; Canadian Institutes of Health Research; Peking Union Medical College Hospital; Hospital for Sick Children","keywords":"Biology; Missense mutation; Zebrafish; Genetics; Phenotype; Brainstem; Anatomy; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001021095,0.0004850992,0.0002077937,0.0007485696,0.0003253707,0.0002951279,0.0002375413,0.0006443869,0.002694042],"category_scores_gemma":[0.0002702059,0.0001770167,0.0003525972,0.0004270786,0.0003217527,0.0001014607,0.0002120972,0.0003651992,0.0003831533],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003357161,"about_ca_system_score_gemma":0.000381094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002485327,"about_ca_topic_score_gemma":0.003800645,"domain_scores_codex":[0.9998899,0.00001590111,0.000007654618,0.00003497173,0.00003129063,0.00002032511],"domain_scores_gemma":[0.999896,0.00002018261,0.00003311472,0.000004310807,0.000009179949,0.00003717181],"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":[0.001087216,0.0001478171,0.07149412,0.0002567247,0.0001787182,0.04816396,0.0001419462,0.0008754721,0.8570172,0.001936316,0.001434183,0.01726642],"study_design_scores_gemma":[0.0004241746,0.0008851659,0.5846271,0.0002034915,0.000576292,0.1423445,0.0004821223,0.0113739,0.2204595,0.001107959,0.0374374,0.00007847368],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9865138,0.003510977,0.003060266,0.0008170202,0.0001001623,0.00005467402,0.000752651,0.0001215659,0.005068857],"genre_scores_gemma":[0.9911699,0.001059796,0.002365747,0.0001622358,0.00003271107,0.00003629905,0.0007206129,0.00002185683,0.004430702],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002694042,"threshold_uncertainty_score":0.009012461,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01723744945007466,"score_gpt":0.319378537765424,"score_spread":0.3021410883153493,"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."}}