{"id":"W1901948746","doi":"10.1016/j.jalz.2015.05.009","title":"Genetic studies of quantitative MCI and AD phenotypes in ADNI: Progress, opportunities, and plans","year":2015,"lang":"en","type":"review","venue":"Alzheimer s & Dementia","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":321,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institutes of Health; Genentech; U.S. National Library of Medicine; IXICO; Servier; Eisai; University of California, San Diego; Pfizer; Biogen; BioClinica; F. Hoffmann-La Roche; Synarc; University of Southern California; Medpace; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; Alzheimer's Disease Neuroimaging Initiative; National Center for Advancing Translational Sciences; Meso Scale Diagnostics; National Institute on Aging; Alzheimer's Association; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; National Science Foundation","keywords":"Genome-wide association study; Computational biology; Exome sequencing; Biology; Alzheimer's Disease Neuroimaging Initiative; Genetic association; Epigenomics; Exome; Disease; Phenotype; Genetics; Medicine; Neuroscience; Single-nucleotide polymorphism; Genotype; Cognitive impairment; Cognition; DNA methylation; Gene; Pathology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002707617,0.0004578176,0.001794551,0.000309828,0.00005770503,0.00002137595,0.000105607,0.000143886,0.00003089323],"category_scores_gemma":[0.00004051855,0.0003400147,0.0001248568,0.0001919586,0.0006359606,0.00007698471,0.0002078107,0.0001999838,0.00001384228],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001742973,"about_ca_system_score_gemma":0.0006811931,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004824139,"about_ca_topic_score_gemma":0.00005695922,"domain_scores_codex":[0.9978139,0.0002184784,0.0006525433,0.000486043,0.0004310233,0.0003980482],"domain_scores_gemma":[0.9986754,0.0001477556,0.0002950619,0.0003146118,0.0002110094,0.00035615],"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":[0.00009210061,0.0002391505,0.001742067,0.003214698,0.209713,0.0003925356,0.0003171735,1.753972e-8,4.182987e-8,0.0001477989,0.0008443503,0.783297],"study_design_scores_gemma":[0.004188306,0.002534966,0.00330464,0.01819262,0.4221931,0.0001993355,0.001974654,0.00001228946,0.000006539669,0.0006038205,0.5457963,0.0009933747],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002859542,0.9975483,4.472619e-7,0.00006317727,0.00005517929,0.001571475,0.0002654956,0.00002006884,0.0001899322],"genre_scores_gemma":[0.00463288,0.9933684,0.00135397,0.0000166473,0.00003165372,0.0002814664,0.0002535123,0.00005601184,0.000005395895],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.7823036,"threshold_uncertainty_score":0.9999052,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2611317494780013,"score_gpt":0.4315213269182164,"score_spread":0.1703895774402151,"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."}}