{"id":"W2964567324","doi":"10.1002/ajmg.c.31733","title":"Gene ontology analysis of arthrogryposis (multiple congenital contractures)","year":2019,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part C Seminars in Medical Genetics","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Arthrogryposis; Arthrogryposis multiplex congenita; Gene; Muscle contracture; Biology; Genetics; Gene ontology; Bioinformatics; Anatomy; Gene expression","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","insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.002453091,0.0003758758,0.002156198,0.0009919404,0.00003569823,0.00001587352,0.0009918204,0.0005101169,0.00264465],"category_scores_gemma":[0.002543791,0.0003135957,0.0007409037,0.001914631,0.00184933,0.00002334146,0.0002520678,0.00143504,0.00001798521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007841959,"about_ca_system_score_gemma":0.001624382,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005702592,"about_ca_topic_score_gemma":0.0001554689,"domain_scores_codex":[0.9905424,0.0005428233,0.002079411,0.0005135731,0.005490766,0.0008310991],"domain_scores_gemma":[0.9949714,0.001198227,0.0007895412,0.0007168702,0.0005782664,0.00174568],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008018076,0.00135804,0.6073726,0.00008020653,0.003482983,0.001493644,0.0005041664,0.00058576,0.003561029,0.00001475749,0.0006408065,0.3801042],"study_design_scores_gemma":[0.03009856,0.02430329,0.7401091,0.002034868,0.01039698,0.005843149,0.005328069,0.07317453,0.0323424,0.0001486699,0.07443583,0.001784524],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.978175,0.01698235,0.001174217,0.002449534,0.0004985604,0.0004328112,0.00001890765,0.000009348093,0.0002592852],"genre_scores_gemma":[0.9543616,0.04020129,0.003218243,0.00185746,0.0002127236,0.000009723562,0.00002893181,0.00005047011,0.00005956913],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3783197,"threshold_uncertainty_score":0.9999316,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01267016205076561,"score_gpt":0.3292753974641738,"score_spread":0.3166052354134082,"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."}}