{"id":"W4399180351","doi":"10.3390/cancers16112072","title":"Characterizing the Relationship between Expression Quantitative Trait Loci (eQTLs), DNA Methylation Quantitative Trait Loci (mQTLs), and Breast Cancer Risk Variants","year":2024,"lang":"en","type":"article","venue":"Cancers","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Medical Research Council; Canadian Institutes of Health Research; National Institutes of Health; National Research Foundation Singapore; Agency for Science, Technology and Research; Ministerio de Economía y Competitividad; National University Health System; National Cancer Institute; National Medical Research Council; National University of Singapore; National Research Foundation; Ministry of Health -Singapore; European Commission; Horizon 2020 Framework Programme; Cancer Research UK; Government of Canada; Genome Canada","keywords":"Expression quantitative trait loci; Quantitative trait locus; Biology; DNA methylation; Trait; Breast cancer; Genetics; Genome-wide association study; Cancer; Single-nucleotide polymorphism; Gene; Genotype; Gene expression; Computer science","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.006853109,0.000583623,0.0004173713,0.001826571,0.0001874579,0.00054189,0.0004170199,0.0004910092,0.001021593],"category_scores_gemma":[0.0158828,0.0001578728,0.0009346486,0.001448143,0.0005754975,0.0003865176,0.0005890979,0.00053529,0.0001438983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003024655,"about_ca_system_score_gemma":0.0003059425,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001702424,"about_ca_topic_score_gemma":0.001586132,"domain_scores_codex":[0.9966877,0.001595449,0.0002505161,0.000864654,0.0004607744,0.0001409248],"domain_scores_gemma":[0.9870353,0.008252555,0.002951235,0.001196796,0.0003916123,0.0001724399],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003786149,0.00002851647,0.980736,0.00006311801,0.0008994821,0.00008836127,0.00007568037,0.00179271,0.004077915,0.0002676366,0.00007470742,0.01151729],"study_design_scores_gemma":[0.0000672206,0.0005107102,0.9762055,0.00001449986,0.0005083283,0.0006135882,0.00005008444,0.01794354,0.002244904,0.001410394,0.0004116862,0.0000196138],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9866833,0.0005296266,0.01167843,0.0001024176,0.000005786826,0.00001557522,0.0006610662,0.00003217783,0.0002915922],"genre_scores_gemma":[0.997267,0.00006293913,0.002205689,0.00002903707,0.00000831427,0.000008728959,0.0003544184,0.00000553048,0.00005822656],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006853109,"threshold_uncertainty_score":0.03624308,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04704914578910419,"score_gpt":0.3336000416650101,"score_spread":0.2865508958759059,"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."}}