{"id":"W2951968424","doi":"10.1002/acn3.582","title":"Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease","year":2018,"lang":"en","type":"article","venue":"Annals of Clinical and Translational Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":165,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"U.S. National Library of Medicine; National Institute of Neurological Disorders and Stroke; National Center for Advancing Translational Sciences; National Human Genome Research Institute; National Institute of Mental Health; National Heart, Lung, and Blood Institute; National Institute on Aging; National Institutes of Health; National Association for Colitis and Crohn's Disease; University of Toronto; Case Western Reserve University; National Institute of Child Health and Human Development; National Alzheimer's Coordinating Center; Baylor College of Medicine; University of Miami; Muscular Dystrophy Association; University of Pennsylvania; Ellison Medical Foundation; American Academy of Child and Adolescent Psychiatry; Vanderbilt University; Biogen; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Broad Institute","keywords":"Exome sequencing; Loss function; Disease; Medicine; Exome; Alzheimer's disease; Genetics; Gene; Bioinformatics; Biology; Internal medicine; Mutation; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005318571,0.0002608334,0.0002706631,0.001336959,0.0007326622,0.0005138142,0.0002865772,0.0003860439,0.001310059],"category_scores_gemma":[0.001314499,0.0001931469,0.0003002285,0.001101167,0.0002632657,0.0001290478,0.0003760542,0.0002138824,0.0002452521],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003155265,"about_ca_system_score_gemma":0.0003301754,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009203863,"about_ca_topic_score_gemma":0.01285075,"domain_scores_codex":[0.9996479,0.0000660306,0.00003702088,0.0001291431,0.00008017715,0.00003966366],"domain_scores_gemma":[0.9994957,0.0001583749,0.0001257358,0.0000655009,0.00008319635,0.00007154635],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007305479,0.0001221488,0.9680178,0.00008207181,0.0002655802,0.003160254,0.0006612841,0.0003828469,0.01528834,0.0001420888,0.001150674,0.009996411],"study_design_scores_gemma":[0.00007293705,0.0001661943,0.9941402,0.00002109434,0.0001301634,0.001613722,0.00027862,0.0003504827,0.001466815,0.00008779566,0.001661786,0.00001020259],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997493,0.000275732,0.0003641678,0.00002548522,0.00000549527,0.00002543229,0.001476025,0.000007039659,0.0003276641],"genre_scores_gemma":[0.9943362,0.000284419,0.0007783289,0.0001046104,0.00001577466,0.00004494399,0.003521488,0.000008445048,0.0009058192],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009203863,"threshold_uncertainty_score":0.01830053,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1165833155707187,"score_gpt":0.3879152153584751,"score_spread":0.2713318997877563,"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."}}