{"id":"W2030444252","doi":"10.1136/jmedgenet-2014-102437","title":"Rare and low-frequency variants in human common diseases and other complex traits","year":2014,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":35,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Institut de Cardiologie de Montréal; Fondation Institut de Cardiologie de Montréal; Genome Canada; Doris Duke Charitable Foundation","keywords":"Biology; Population stratification; Phenotype; Genetics; Human genetic variation; Genetic variation; Confounding; Human genetics; Genome-wide association study; Missense mutation; Human genome; Genetic association; Population; 1000 Genomes Project; Computational biology; Evolutionary biology; Single-nucleotide polymorphism; Genotype; Genome; Medicine; Gene; Internal 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009002328,0.000248262,0.001261736,0.0001041053,0.00005062101,0.00001943524,0.000338931,0.0006730127,0.00005080729],"category_scores_gemma":[0.0004931302,0.00018952,0.0001759534,0.00006725298,0.000185588,0.000001345102,0.0001501244,0.000367391,9.573419e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001835494,"about_ca_system_score_gemma":0.0002356804,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000008220053,"about_ca_topic_score_gemma":0.00004138387,"domain_scores_codex":[0.9976539,0.0005328665,0.001027404,0.0002395598,0.0003037037,0.0002425465],"domain_scores_gemma":[0.9986684,0.0001207318,0.0006590707,0.0001668657,0.00005743751,0.0003274841],"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":[0.00001007238,0.0002073738,0.01989131,0.003262291,0.0003247079,0.00006645269,0.00004516767,0.000004085731,0.0001146144,0.0001047779,0.004644952,0.9713242],"study_design_scores_gemma":[0.001134095,0.000568482,0.03713381,0.003118528,0.0004572887,0.0005661545,0.00002027317,0.00004724631,0.000001283593,0.0005714017,0.956012,0.000369407],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.02667122,0.9725624,0.0002033967,0.0001570239,0.0001175731,0.0001469597,0.0000504907,0.000001552025,0.00008938862],"genre_scores_gemma":[0.01194861,0.9863254,0.0005621226,0.0004185982,0.000644148,0.000004784826,0.00003933562,0.00003121681,0.00002571879],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9709548,"threshold_uncertainty_score":0.7728403,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0443978568883898,"score_gpt":0.3645877920051626,"score_spread":0.3201899351167727,"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."}}