{"id":"W2090716675","doi":"10.1007/s00439-009-0626-9","title":"Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans","year":2009,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":80,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Ontario Institute for Cancer Research; Montreal Children's Hospital; McGill University and Génome Québec Innovation Centre; Université de Montréal; Université Laval","funders":"Translational Genomics Research Institute; Génome Québec; Genome Canada; McGill University; Heart and Stroke Foundation of Canada","keywords":"Genome-wide association study; Genotyping; Single-nucleotide polymorphism; Biology; Genetic association; Pooling; Genetics; Computational biology; Genotype; Gene; Computer science; Artificial intelligence","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":[0.0004425237,0.0001488505,0.0002419903,0.00005836768,0.0001856526,0.00001896584,0.0001840878,0.0001832307,0.0000143383],"category_scores_gemma":[0.0004181817,0.0001680551,0.0001719635,0.00008116276,0.00005484554,0.000002332305,0.0000269855,0.00003891072,0.000001369968],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009213565,"about_ca_system_score_gemma":0.00009950832,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001069441,"about_ca_topic_score_gemma":0.00005195857,"domain_scores_codex":[0.9985554,0.0001217846,0.000561219,0.0003434726,0.0001364952,0.0002816702],"domain_scores_gemma":[0.9985802,0.0000709587,0.0005103462,0.0003861335,0.0003840763,0.00006834954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001844508,0.000118211,0.376996,0.0000213352,0.00003870801,5.950076e-8,0.00002003313,0.01943367,0.6024352,0.0000131561,0.0005361359,0.0003690464],"study_design_scores_gemma":[0.0005677825,0.0003223242,0.953695,0.000004300382,0.0001248232,2.564566e-7,0.00003490863,0.01158979,0.03088875,0.001205973,0.001356846,0.0002092416],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.945501,0.0005764667,0.05306,0.0001878123,0.00007207471,0.0003687369,0.0001975627,0.00001216021,0.0000242345],"genre_scores_gemma":[0.9933847,0.00005157879,0.004988722,0.000360308,0.0002215288,0.00001371056,0.0008099718,0.00001745119,0.00015201],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.576699,"threshold_uncertainty_score":0.6853088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0388545687513269,"score_gpt":0.3205431204913579,"score_spread":0.281688551740031,"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."}}