{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001580164,0.0001865267,0.0001496113,0.0001493451,0.0002728259,0.00009460024,0.000187365,0.0001452021,0.00002072428],"category_scores_gemma":[0.00009284864,0.0002113493,0.00009677192,0.0002682335,0.0001348478,0.000004966803,0.0002866914,0.00008171219,0.00007822482],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001617274,"about_ca_system_score_gemma":0.000124917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003349296,"about_ca_topic_score_gemma":0.0001642515,"domain_scores_codex":[0.9986784,0.00005082234,0.0002118018,0.0003785999,0.0002109343,0.0004694621],"domain_scores_gemma":[0.9991648,0.0000115489,0.00003668268,0.0003921847,0.0001992916,0.0001954489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004131964,0.00002714,0.001167182,0.00004889121,0.0001169758,0.00002485715,0.00007534785,0.00004642217,0.995206,0.000329314,0.001815787,0.001100788],"study_design_scores_gemma":[0.002806886,0.001792605,0.02875836,0.00002478809,0.0001372704,0.0001504476,0.0001598063,0.003134408,0.9300399,0.001418059,0.03076273,0.0008146662],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962184,0.001405278,0.0007384716,0.00008780071,0.00006648627,0.0007442451,0.0001258404,0.000039168,0.0005742825],"genre_scores_gemma":[0.9972364,0.000192492,0.0005194469,0.000230084,0.00009751852,0.0002041666,0.0005065574,0.00005653824,0.0009568061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.065166,"threshold_uncertainty_score":0.8618574,"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."}}