{"id":"W1980767402","doi":"10.1038/ng.2950","title":"Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma","year":2014,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Glioma Diagnosis and Treatment","field":"Medicine","cited_by":467,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; McGill University; McGill Genome Centre; McGill University Health Centre; Montreal Children's Hospital","funders":"Hungarian Scientific Research Fund; McGill University; Génome Québec; National Cancer Institute; Children's Hospital Foundation; Canadian Institutes of Health Research; Genome Canada; Dana-Farber Cancer Institute","keywords":"Biology; Histone; Epigenetics; Histone H3; Cancer research; Mutation; DNA methylation; Exome sequencing; Germline mutation; Genetics; Gene; Gene expression","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":[0.0001708034,0.0004149232,0.0003261614,0.0008777882,0.0004613076,0.0006141315,0.000505692,0.0008012556,0.001348837],"category_scores_gemma":[0.001103984,0.0002466144,0.0003942416,0.0008971783,0.0004944017,0.0002844884,0.0003602386,0.0004543549,0.0003562497],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006961899,"about_ca_system_score_gemma":0.0004919494,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002636835,"about_ca_topic_score_gemma":0.004085099,"domain_scores_codex":[0.9996188,0.00002952447,0.0000430445,0.00008000556,0.000146529,0.00008204739],"domain_scores_gemma":[0.9994382,0.0001310107,0.0002402457,0.00003243568,0.00005742771,0.0001007115],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.000567051,0.0000966779,0.3218816,0.0002367603,0.0002034733,0.4435784,0.0009435802,0.004501419,0.1640123,0.001904329,0.002123776,0.0599507],"study_design_scores_gemma":[0.00003898329,0.0002198616,0.2236267,0.00006987449,0.0002781175,0.7253323,0.000746773,0.003745336,0.04020444,0.0007687781,0.004924053,0.000044723],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957687,0.0008934046,0.0007876561,0.0001637612,0.00002048642,0.00001195861,0.0002375376,0.00006652113,0.002050063],"genre_scores_gemma":[0.9989237,0.0002340964,0.000577193,0.00001852999,0.00001042861,0.000002496467,0.00007903153,0.0000165278,0.0001379072],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002636835,"threshold_uncertainty_score":0.005243003,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009874758272371812,"score_gpt":0.2801562034248023,"score_spread":0.2702814451524305,"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."}}