{"id":"W2508727752","doi":"10.1038/ng.3650","title":"Noncoding somatic and inherited single-nucleotide variants converge to promote ESR1 expression in breast cancer","year":2016,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":105,"is_retracted":false,"has_abstract":false,"ca_institutions":"Princess Margaret Cancer Centre; Ontario Institute for Cancer Research; University of Toronto; University Health Network","funders":"National Cancer Institute; Canadian Institutes of Health Research","keywords":"Estrogen receptor alpha; Biology; Breast cancer; Enhancer; Estrogen receptor; Genetics; Single-nucleotide polymorphism; Cancer research; Somatic cell; Gene; Transcription factor; Cancer; Genotype","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":[0.0003970772,0.0002105006,0.0003204073,0.0003979304,0.000169773,0.0004177357,0.0003334266,0.0004986913,0.002165933],"category_scores_gemma":[0.0006922148,0.000224831,0.0003243131,0.0002287667,0.0003291069,0.0001682639,0.000423085,0.0005735535,0.0006004142],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001882741,"about_ca_system_score_gemma":0.0001348718,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002349996,"about_ca_topic_score_gemma":0.000498026,"domain_scores_codex":[0.9996412,0.00006908796,0.00004079461,0.00006708891,0.0001368525,0.00004508783],"domain_scores_gemma":[0.9994754,0.0002161501,0.0001024398,0.00006119005,0.00004710582,0.00009772259],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003581678,0.00003884133,0.006813292,0.00004025628,0.00004318184,0.0007697926,0.00004429403,0.0005186315,0.98533,0.0007830367,0.0001734653,0.005087024],"study_design_scores_gemma":[0.0001555234,0.0005413196,0.2587288,0.00005146394,0.0002318469,0.008482119,0.0002068703,0.008356225,0.7137735,0.002640596,0.006780614,0.00005109141],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942206,0.001107243,0.002453985,0.0002331309,0.00006550747,0.000007692193,0.0002132888,0.00008500288,0.001613577],"genre_scores_gemma":[0.9979458,0.0002214914,0.0008012652,0.00009425158,0.00002304331,0.000004734278,0.00009818454,0.0000349395,0.0007761139],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002165933,"threshold_uncertainty_score":0.007245779,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006929196737173543,"score_gpt":0.2446675144942067,"score_spread":0.2377383177570331,"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."}}