{"id":"W2072441383","doi":"10.1038/ng.2925","title":"Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma","year":2014,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Heterotopic Ossification and Related Conditions","field":"Medicine","cited_by":525,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Cancer Agency","funders":"National Institute of Neurological Disorders and Stroke; Rosetrees Trust; Brain Tumour Charity; Canadian Institutes of Health Research; Cancer Research UK; Wellcome Trust","keywords":"Biology; Fibrodysplasia ossificans progressiva; Mutation; Cancer research; Germline; Germline mutation; Cancer; Somatic cell; Internal medicine; Bioinformatics; Gene; Genetics; Medicine; Heterotopic ossification","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":[0.0000897819,0.00009437813,0.000134248,0.0001941041,0.00005979482,0.00001579209,0.00006570067,0.00028724,0.00006431129],"category_scores_gemma":[0.0002899258,0.00008121027,0.00004522243,0.0003568712,0.00003439545,0.00002252868,0.00001995061,0.0006905545,0.00003411311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004433257,"about_ca_system_score_gemma":0.00004284823,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001809759,"about_ca_topic_score_gemma":0.00000876281,"domain_scores_codex":[0.9992399,0.00004088503,0.0002264355,0.0001797595,0.0001551744,0.0001578777],"domain_scores_gemma":[0.9994521,0.00005875828,0.00006121459,0.0002471842,0.00008795544,0.0000928622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.000126615,0.00230355,0.0681745,0.000214925,0.0001737109,0.00008843064,0.002663817,0.00007173143,0.1149283,0.004690317,0.003627772,0.8029363],"study_design_scores_gemma":[0.006993428,0.0004058349,0.7987069,0.0003083833,0.000105351,0.0001325771,0.0002204609,0.003642406,0.03865737,0.001387118,0.1490639,0.0003762998],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917911,0.0003835024,0.0002997764,0.002924344,0.0003594736,0.0002945736,0.000004386769,0.0000544967,0.003888311],"genre_scores_gemma":[0.9966326,0.00005154398,0.002148416,0.0004858059,0.0002236929,0.00002494952,0.00007791479,0.00001355925,0.0003415683],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.80256,"threshold_uncertainty_score":0.3311659,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01242260947582384,"score_gpt":0.2972103727067782,"score_spread":0.2847877632309544,"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."}}