{"id":"W2885780647","doi":"10.1101/371450","title":"Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries","year":2018,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre","funders":"National Institutes of Health","keywords":"Exome sequencing; Exome; Genetics; Nonsynonymous substitution; Gene; Biology; Genetic association; Allele; Candidate gene; Allele frequency; Computational biology; Bioinformatics; Genotype; Mutation; Single-nucleotide polymorphism; Genome","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":[0.003564007,0.0002999673,0.0003312139,0.001073511,0.0003695792,0.0009228917,0.0003367585,0.0005035669,0.00305811],"category_scores_gemma":[0.01154387,0.0001890518,0.0004420217,0.0008254101,0.0002417711,0.0003011482,0.0005905309,0.0003767302,0.0002712495],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002336715,"about_ca_system_score_gemma":0.000364114,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001534119,"about_ca_topic_score_gemma":0.002900477,"domain_scores_codex":[0.9982308,0.001032049,0.000127719,0.0003079092,0.0002144626,0.00008718387],"domain_scores_gemma":[0.9938232,0.004638344,0.000573959,0.0004116256,0.0002896381,0.0002631287],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001943593,0.0001940321,0.8532445,0.0001748093,0.0006733356,0.001742417,0.0005292131,0.01415178,0.03361651,0.002473973,0.002188072,0.0890677],"study_design_scores_gemma":[0.0003412461,0.00034563,0.811386,0.0001084172,0.0005025301,0.001565088,0.0006657124,0.1509116,0.01682957,0.01076876,0.006499019,0.0000763464],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9694263,0.000271754,0.02549878,0.000701301,0.00002125773,0.00005396194,0.002659241,0.00009281195,0.001274507],"genre_scores_gemma":[0.9846945,0.00007785963,0.01348073,0.0001043984,0.00002881043,0.00003346166,0.001254357,0.00001563947,0.0003102581],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003564007,"threshold_uncertainty_score":0.01884848,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01639279833994705,"score_gpt":0.2343397694953033,"score_spread":0.2179469711553562,"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."}}