{"id":"W2774504697","doi":"10.1038/nrg.2017.101","title":"Genetic architecture: the shape of the genetic contribution to human traits and disease","year":2017,"lang":"en","type":"review","venue":"Nature Reviews Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":463,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Medical Research Council; Wellcome Trust","keywords":"Genetic architecture; Biology; Trait; Disease; Genome-wide association study; Population; DECIPHER; Genetics; Genetic association; Genetic variation; Quantitative trait locus; Evolutionary biology; Computational biology; Gene; Genotype; Computer science; Single-nucleotide polymorphism; Demography; Medicine; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0007719112,0.0006205536,0.00161147,0.00006945824,0.0004788709,0.00005088614,0.001446053,0.0009926729,0.00001167658],"category_scores_gemma":[0.002094382,0.0003393471,0.0008903791,0.0001963128,0.0003155255,0.000001251743,0.0006526787,0.0007764681,0.00001020242],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003487037,"about_ca_system_score_gemma":0.0003604571,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003044602,"about_ca_topic_score_gemma":0.00004679985,"domain_scores_codex":[0.9962251,0.001113283,0.001145875,0.0007808598,0.000254354,0.0004805743],"domain_scores_gemma":[0.9966183,0.00008841097,0.00129036,0.001525561,0.0001826397,0.0002947669],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.000004465559,0.00002807047,0.0004668905,0.00191416,0.0001525825,0.000001122289,0.00001306155,0.00002067543,0.0001253471,0.00004377963,0.003830152,0.9933997],"study_design_scores_gemma":[0.0001361886,0.00009655926,0.03169194,0.001474838,0.001144366,0.00003218709,0.000001007289,0.000005693446,0.000004988986,0.0002241703,0.9648339,0.0003541325],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001656823,0.9940389,0.000277135,0.0003674811,0.0002860937,0.003091947,0.0002261488,0.000005400233,0.00005008743],"genre_scores_gemma":[0.00282845,0.9937618,0.001258188,0.0007008493,0.0007400979,0.0002952082,0.00009532762,0.00006596839,0.0002540812],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9930456,"threshold_uncertainty_score":0.9999059,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0363290847374732,"score_gpt":0.3610658665967831,"score_spread":0.3247367818593099,"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."}}