{"id":"W1998331682","doi":"10.1371/journal.pone.0107983","title":"Gene-Based Rare Allele Analysis Identified a Risk Gene of Alzheimer’s Disease","year":2014,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Alzheimer's disease research and treatments","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Human Genome Research Institute; National Institute on Aging; National Institutes of Health; Genentech; IXICO; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; University of California, Los Angeles; Servier; Eisai; Northern California Institute for Research and Education; Johns Hopkins University; Pfizer; Biogen; BioClinica; Korea Institute of Science and Technology Information; F. Hoffmann-La Roche; Medpace; GlaxoSmithKline; Eli Lilly and Company; Bristol-Myers Squibb; National Heart, Lung, and Blood Institute; Novartis Pharmaceuticals Corporation; Korea Institute of Science and Technology; Synarc; Meso Scale Diagnostics; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"Allele; Genetics; Biology; TREM2; Genome-wide association study; Genotype; Gene; Apolipoprotein E; Genetic association; Missing heritability problem; Minor allele frequency; Allele frequency; Single-nucleotide polymorphism; Disease; Medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00093538,0.0003468489,0.0006324499,0.001566934,0.0003486259,0.0005150985,0.0004558872,0.000454531,0.001838874],"category_scores_gemma":[0.003600497,0.0001261449,0.0009384937,0.001934599,0.000275625,0.000185699,0.0003970401,0.0004523879,0.0002416529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001834642,"about_ca_system_score_gemma":0.000278855,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001975526,"about_ca_topic_score_gemma":0.002852871,"domain_scores_codex":[0.9985996,0.000383082,0.0001216728,0.000602383,0.0001958585,0.00009748633],"domain_scores_gemma":[0.9984049,0.0008806615,0.0003410273,0.0001427874,0.0001036247,0.0001270038],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002421965,0.0001637602,0.8748409,0.0003547615,0.003089737,0.004936369,0.0003360196,0.001969275,0.05983671,0.001189724,0.001407016,0.04945379],"study_design_scores_gemma":[0.0002400179,0.0005422884,0.9582537,0.00006225415,0.002582733,0.006933124,0.0001843467,0.0132409,0.01060602,0.002353885,0.004950693,0.00004993039],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891647,0.0007552223,0.007606773,0.00008520643,0.00002758056,0.0000319166,0.001825755,0.00008253011,0.0004202387],"genre_scores_gemma":[0.9914058,0.0001780999,0.006374862,0.00006399501,0.00002087574,0.00002788692,0.001651886,0.00002416253,0.0002522731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001975526,"threshold_uncertainty_score":0.006151617,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06082495825603831,"score_gpt":0.2951143871942026,"score_spread":0.2342894289381643,"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."}}