{"id":"W2010789111","doi":"10.1101/gr.164079.113","title":"Combinatorial effects of multiple enhancer variants in linkage disequilibrium dictate levels of gene expression to confer susceptibility to common traits","year":2013,"lang":"en","type":"article","venue":"Genome Research","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":392,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University Health Network","funders":"National Institute of General Medical Sciences; National Cancer Institute; National Institutes of Health","keywords":"Enhancer; Biology; Genome-wide association study; Genetics; Linkage disequilibrium; Single-nucleotide polymorphism; Locus (genetics); Genetic association; Gene; Expression quantitative trait loci; Gene expression; Genotype","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0008212689,0.0003270794,0.0005558189,0.0006718267,0.0002163272,0.0006354771,0.000352821,0.0003770099,0.002674435],"category_scores_gemma":[0.001388244,0.0002871879,0.0003617464,0.0004785558,0.0005959314,0.000340333,0.0007670186,0.0005328734,0.0003727984],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001646043,"about_ca_system_score_gemma":0.0002113418,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000302554,"about_ca_topic_score_gemma":0.0009546516,"domain_scores_codex":[0.9989348,0.0003237743,0.00005981157,0.0003720951,0.0002057181,0.0001037644],"domain_scores_gemma":[0.9988052,0.0006564115,0.0002321133,0.0001788681,0.00004510682,0.00008236233],"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":[0.0004690579,0.0001155822,0.06895572,0.0001286872,0.0002965002,0.0007561149,0.0001338252,0.0016371,0.9042507,0.006161339,0.0001585708,0.01693678],"study_design_scores_gemma":[0.0003180028,0.001031686,0.6606224,0.00006995024,0.0008499745,0.005272407,0.0003799812,0.02436827,0.2761093,0.02196955,0.008904263,0.0001041468],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9691496,0.00113036,0.02621219,0.0001394532,0.00002838259,0.0000222983,0.000361401,0.0001665637,0.002789754],"genre_scores_gemma":[0.9914443,0.0002501157,0.007450471,0.00009369524,0.00002017403,0.00002428952,0.0001668415,0.00004782373,0.0005023374],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002674435,"threshold_uncertainty_score":0.008946836,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02978646353067047,"score_gpt":0.3345184245374788,"score_spread":0.3047319610068083,"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."}}