{"id":"W2014255047","doi":"10.1186/1755-8794-7-34","title":"On the identification of potential regulatory variants within genome wide association candidate SNP sets","year":2014,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Child and Family Research Institute; University of British Columbia","funders":"Natural Sciences and Engineering Research Council of Canada; National Institutes of Health; National Science Council; Genome British Columbia; National Institute of General Medical Sciences; Western Canada Research Grid; Compute Canada; Canadian Institutes of Health Research; Genome Canada","keywords":"Biology; Single-nucleotide polymorphism; Genetics; Genome-wide association study; Linkage disequilibrium; Computational biology; Genetic association; International HapMap Project; 1000 Genomes Project; Tag SNP; Population; Gene; Genotype; Medicine","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":[0.007451829,0.0007897331,0.001476783,0.00400257,0.0008424127,0.002310471,0.00143249,0.001371293,0.003948245],"category_scores_gemma":[0.0215157,0.0004083069,0.001570833,0.002869705,0.0009500685,0.0009041399,0.00143401,0.001332069,0.001349042],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004980473,"about_ca_system_score_gemma":0.0008828099,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001223331,"about_ca_topic_score_gemma":0.00225056,"domain_scores_codex":[0.9957567,0.001784566,0.0003055724,0.001127798,0.0008243291,0.000201081],"domain_scores_gemma":[0.9771791,0.01988148,0.00108226,0.0008396487,0.0007540026,0.000263378],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.003272683,0.000548244,0.2538848,0.003053675,0.003046686,0.005377172,0.0007402378,0.1006463,0.1084674,0.04341893,0.009918582,0.4676253],"study_design_scores_gemma":[0.0006674541,0.0008928835,0.2243358,0.001453704,0.002857041,0.007165508,0.0006614191,0.5096812,0.04176856,0.1687518,0.04147664,0.0002879524],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.3526762,0.01077829,0.6157973,0.001645359,0.0002674842,0.0005886048,0.00583084,0.002265266,0.01015067],"genre_scores_gemma":[0.7591829,0.002714596,0.2279211,0.0009328371,0.0002076657,0.0005037923,0.007008272,0.0002828103,0.001245852],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.007451829,"threshold_uncertainty_score":0.03940952,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01008249360164353,"score_gpt":0.2431961234997453,"score_spread":0.2331136298981018,"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."}}