{"id":"W4302425337","doi":"10.1126/science.abj2890","title":"A noncoding single-nucleotide polymorphism at 8q24 drives <i>IDH1</i> -mutant glioma formation","year":2022,"lang":"en","type":"article","venue":"Science","topic":"Glioma Diagnosis and Treatment","field":"Medicine","cited_by":69,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Institute for Cancer Research; Princess Margaret Cancer Centre; University of Toronto; University Health Network; Hospital for Sick Children; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"Lawrence Berkeley National Laboratory; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; Center for Individualized Medicine, Mayo Clinic; National Cancer Institute; National Institutes of Health; Cancer Research UK; Government of Ontario; National Human Genome Research Institute; University of California, San Francisco; U.S. Department of Energy","keywords":"Penetrance; Isocitrate dehydrogenase; IDH1; Locus (genetics); Biology; Single-nucleotide polymorphism; Glioma; Allele; Mutant; Genetics; Enhancer; Nucleotide; Gene; Cancer research; Phenotype; Transcription factor; Genotype; Enzyme; Biochemistry","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":[0.0003336153,0.000111169,0.0001489672,0.0002805504,0.0009189389,0.00005331007,0.0001854895,0.00001384021,0.0002420278],"category_scores_gemma":[0.00004935868,0.00009375733,0.00006935307,0.001032983,0.0002144185,0.0003051365,0.0003198864,0.00008069762,0.00008381928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007266622,"about_ca_system_score_gemma":0.0001031984,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000226247,"about_ca_topic_score_gemma":0.00000940169,"domain_scores_codex":[0.9983501,0.00002250166,0.0001931539,0.0003160048,0.0007617697,0.0003564724],"domain_scores_gemma":[0.9993547,0.00003965586,0.00009741954,0.0002852698,0.00005335269,0.0001696562],"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":[0.00002943466,0.0002390187,0.005044807,0.000007879889,0.000006038829,0.0002563256,0.0007391602,0.00002164121,0.9893718,0.0002878912,0.0003746932,0.003621249],"study_design_scores_gemma":[0.001461164,0.0006236164,0.00877185,0.00004961797,0.00005179341,0.001245016,0.000808576,0.001406837,0.9694918,0.000150458,0.01576662,0.0001726888],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928877,0.0003381258,0.0000256261,0.002354447,0.0004327426,0.000277469,0.00001267723,0.00007014607,0.003601098],"genre_scores_gemma":[0.9987875,0.00001100977,0.000420771,0.0005808235,0.00005490339,0.00005761949,0.000008138047,0.000009897914,0.00006932456],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0198801,"threshold_uncertainty_score":0.7067828,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02205146871114377,"score_gpt":0.2573929582887117,"score_spread":0.2353414895775679,"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."}}