{"id":"W4388221723","doi":"10.1101/2023.10.30.564691","title":"Breast cancer risk SNPs converge on estrogen receptor binding sites commonly shared between breast tumors to locally alter estrogen signalling output","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genomics and Chromatin Dynamics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Horizon 2020 Framework Programme; European Commission; Oncode Institute; National Institutes of Health; Cancer Research UK; Government of Canada; Canadian Institutes of Health Research; Genome Canada","keywords":"Breast cancer; Estrogen; Estrogen receptor alpha; Estrogen receptor; Signalling; Estrogen receptor beta; Single-nucleotide polymorphism; Medicine; Internal medicine; Oncology; Cancer research; Cancer; Biology; Genetics; Gene; Genotype; Cell biology","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":[0.0003602483,0.0003150709,0.0005074474,0.0004793208,0.0002813929,0.000564212,0.0001885406,0.0003405858,0.003998884],"category_scores_gemma":[0.0006602083,0.000283744,0.0003910532,0.0007816625,0.0002369233,0.0001743225,0.0004765031,0.0003539577,0.0009808115],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002071121,"about_ca_system_score_gemma":0.0002524249,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001231437,"about_ca_topic_score_gemma":0.002696198,"domain_scores_codex":[0.9996079,0.00004297439,0.00001634235,0.0001795451,0.00009459123,0.0000587295],"domain_scores_gemma":[0.9997606,0.00007320139,0.00004917612,0.00006721797,0.000019621,0.00003008675],"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":[0.0007256991,0.0001015429,0.1530584,0.0006002331,0.0007916226,0.001140724,0.0004321049,0.007230333,0.7673362,0.007404132,0.008062826,0.05311619],"study_design_scores_gemma":[0.00009931137,0.0001604862,0.7354277,0.0000725016,0.0005349909,0.002659954,0.0002971616,0.03006622,0.1847983,0.01395437,0.03186626,0.00006265264],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9527292,0.001511419,0.02922458,0.0002278879,0.00008502581,0.00001934756,0.009561446,0.001409116,0.005231945],"genre_scores_gemma":[0.9795119,0.0004757708,0.009014227,0.0001425384,0.00003158435,0.00003125415,0.007819833,0.0003497805,0.002623291],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003998884,"threshold_uncertainty_score":0.01337755,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01409602386093436,"score_gpt":0.22619144122136,"score_spread":0.2120954173604256,"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."}}