{"id":"W2620257106","doi":"10.1186/s12920-017-0267-0","title":"Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer’s disease","year":2017,"lang":"en","type":"article","venue":"BMC Medical Genomics","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of General Medical Sciences; National Institute on Aging; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; University of California, San Diego; National Institutes of Health; Genentech; U.S. National Library of Medicine; IXICO; Eisai; Servier; Brin Wojcicki Foundation; Northern California Institute for Research and Education; 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; Foundation for the National Institutes of Health; Alzheimer's Disease Neuroimaging Initiative; National Center for Advancing Translational Sciences; Meso Scale Diagnostics; Alzheimer's Association; National Science Foundation","keywords":"Apolipoprotein E; Alzheimer's Disease Neuroimaging Initiative; Neuroimaging; Biology; Allele; Genome-wide association study; Genetics; Entorhinal cortex; Genotype; Alzheimer's disease; Gene; Pathology; Single-nucleotide polymorphism; Medicine; Neuroscience; Disease; Hippocampus","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":[],"consensus_categories":[],"category_scores_codex":[0.0004101977,0.0001115729,0.0003470972,0.00009082958,0.0002463495,0.00004902069,0.0001689435,0.0000572908,0.00004526048],"category_scores_gemma":[0.001032365,0.00006874222,0.0001339855,0.0001452865,0.0004687445,0.00007381446,0.0001028392,0.0001058922,0.00000218131],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004356879,"about_ca_system_score_gemma":0.0008874086,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002469418,"about_ca_topic_score_gemma":0.00006642495,"domain_scores_codex":[0.9985163,0.000113718,0.0002422994,0.0002265518,0.0006917425,0.0002094002],"domain_scores_gemma":[0.9981938,0.0002431279,0.0003461038,0.000583646,0.000128834,0.0005044593],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009581663,0.0001964378,0.9725993,0.0000663893,0.02235812,0.000142086,0.0000995771,0.000008527693,0.00001470445,0.00003639498,0.000212644,0.003307678],"study_design_scores_gemma":[0.001761473,0.00008582871,0.966963,0.00007803036,0.0126484,0.000006116709,0.00005919651,0.01819327,0.00003522038,0.00003272123,0.00007440718,0.0000623607],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937742,0.002969438,0.0002212404,0.002172243,0.00003349011,0.0003761654,0.00007144576,0.00001024167,0.0003715589],"genre_scores_gemma":[0.9989776,0.0004716584,0.0003091126,0.0001015444,0.00003803267,0.000009227163,0.00006466214,0.00001359035,0.00001455608],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01818475,"threshold_uncertainty_score":0.2803226,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04502441223609233,"score_gpt":0.3182123705339257,"score_spread":0.2731879582978334,"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."}}