{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000148476,0.0003843912,0.0002185817,0.0004071789,0.0001669875,0.0002087979,0.0002623681,0.0003307951,0.002220261],"category_scores_gemma":[0.000277859,0.0001588931,0.0003631701,0.0001910548,0.000333322,0.0000651228,0.0002567885,0.0004684154,0.0003743501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002445357,"about_ca_system_score_gemma":0.0002419568,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001194102,"about_ca_topic_score_gemma":0.003297701,"domain_scores_codex":[0.9997829,0.00003505847,0.00002207246,0.00007390082,0.00006003157,0.00002610884],"domain_scores_gemma":[0.9997666,0.00005742851,0.0001034115,0.00002870305,0.000009227516,0.00003459268],"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":[0.0001904711,0.00004573757,0.006479552,0.00005193007,0.00006316668,0.00091116,0.00004372492,0.000271743,0.9844397,0.0006919653,0.0003100131,0.006500859],"study_design_scores_gemma":[0.0002439749,0.0008001269,0.2230716,0.00008639747,0.0003026897,0.01191888,0.0001669704,0.005612466,0.7435715,0.001475041,0.01269319,0.00005714839],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9917915,0.0003713428,0.004816046,0.0002471328,0.0000663489,0.00003546784,0.0009295397,0.0002289724,0.001513664],"genre_scores_gemma":[0.9968697,0.000143234,0.002036198,0.00009240204,0.00001228909,0.00001645433,0.000281983,0.00003436675,0.0005133985],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002220261,"threshold_uncertainty_score":0.007427573,"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."}}