{"id":"W1689692388","doi":"10.1002/ana.24466","title":"Rare coding mutations identified by sequencing of <scp>A</scp>lzheimer disease genome‐wide association studies loci","year":2015,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":151,"is_retracted":false,"has_abstract":true,"ca_institutions":"Occupational Cancer Research Centre; University of Toronto","funders":"National Institute on Aging; Medical Research Council; Canadian Institutes of Health Research; Wellcome Trust","keywords":"Genetics; Whole genome sequencing; Disease; Biology; Genome; Genetic association; DNA sequencing; Computational biology; Gene; Genome-wide association study; Medicine; Single-nucleotide polymorphism; Genotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003389196,0.0001441662,0.0004191397,0.0001639346,0.00006642631,0.000007727213,0.00009213376,0.00007709503,0.00001195188],"category_scores_gemma":[0.005620657,0.0001323343,0.0001359353,0.0002157511,0.0001463666,0.0001329832,0.00007179346,0.0001451647,0.00003487669],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004278782,"about_ca_system_score_gemma":0.000306613,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004139449,"about_ca_topic_score_gemma":0.00000567997,"domain_scores_codex":[0.9983021,0.0002184932,0.0003729869,0.0002629664,0.0004759693,0.0003674586],"domain_scores_gemma":[0.9969684,0.00114315,0.0003090288,0.0002364068,0.0009340987,0.000408849],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006390181,0.0008242831,0.844222,0.0002842106,0.01658876,0.0007279742,0.001836596,0.0001686043,0.002274171,0.000101598,0.1321621,0.0001706874],"study_design_scores_gemma":[0.0102416,0.004876579,0.9238479,0.0001905624,0.006238064,0.00004318764,0.003713676,0.0006697746,0.03294967,0.009724815,0.007139078,0.0003650731],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9751394,0.01959356,0.00001249082,0.004220929,0.0000765863,0.0003498667,0.0001785252,0.00003029661,0.0003983408],"genre_scores_gemma":[0.9969291,0.0008442317,0.00001951536,0.001669604,0.00004834193,0.00003397169,0.0002481313,0.00002064477,0.0001864323],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.125023,"threshold_uncertainty_score":0.6728858,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1598348341484784,"score_gpt":0.3889864226747194,"score_spread":0.229151588526241,"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."}}