{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001670786,0.0005440012,0.0003796573,0.001169693,0.0004007144,0.00059504,0.0007292746,0.001252618,0.002086856],"category_scores_gemma":[0.001174816,0.0002482438,0.0003442274,0.0008529332,0.0007266763,0.0003783871,0.0005311065,0.0005289143,0.0004206865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006546261,"about_ca_system_score_gemma":0.0004519198,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003217776,"about_ca_topic_score_gemma":0.004469596,"domain_scores_codex":[0.999652,0.00002415167,0.00003862759,0.0000681212,0.0001205442,0.00009650908],"domain_scores_gemma":[0.999424,0.0001292238,0.0002122615,0.00005446619,0.00004755825,0.0001324527],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005656853,0.0000796792,0.0710155,0.0001347178,0.0001076775,0.7939448,0.0007411322,0.001496162,0.1107737,0.001446854,0.0007790425,0.01891496],"study_design_scores_gemma":[0.00005920664,0.0002165003,0.09527896,0.00002099197,0.000159907,0.8836854,0.000430086,0.002127444,0.01494684,0.0008760644,0.002151882,0.00004680478],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961046,0.00037754,0.0003464172,0.0001321561,0.00001479726,0.0000130238,0.0001184498,0.00003953616,0.00285348],"genre_scores_gemma":[0.9994799,0.00006791476,0.000149013,0.00001380019,0.00001165025,0.000001411032,0.00003465202,0.000006514661,0.0002352543],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003217776,"threshold_uncertainty_score":0.006981194,"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."}}