{"id":"W1969874328","doi":"10.1371/journal.pgen.1002707","title":"Brain Expression Genome-Wide Association Study (eGWAS) Identifies Human Disease-Associated Variants","year":2012,"lang":"en","type":"review","venue":"PLoS Genetics","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":238,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Institute of Mental Health; National Institute on Aging; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; Genentech; National Institutes of Health; Pfizer Pharmaceuticals; Arizona Biomedical Research Commission; National Center for Advancing Translational Sciences; Medical Research Council; Hersenstichting; Bristol-Myers Squibb; North Bristol NHS Trust; Astellas Pharma; Howard Hughes Medical Institute; Eisai; National Cancer Institute; Stichting MS Research; Northern California Institute for Research and Education; Danone; Eli Lilly and Company; Alzheimer's Research Trust; Arizona Department of Health Services; Medpace; GlaxoSmithKline; Pfizer; University of Miami; AstraZeneca; Novartis; U.S. Department of Veterans Affairs; Wellcome Trust; Synarc; Dana Foundation; Alzheimer's Association; National Center for Research Resources; F. Hoffmann-La Roche; National Institute of General Medical Sciences; Siragusa Foundation","keywords":"Genome-wide association study; Temporal cortex; Progressive supranuclear palsy; Biology; Human brain; Cerebellum; Cerebellar cortex; Genetics; Disease; Alzheimer's disease; Gene; Neuroscience; Pathology; Single-nucleotide polymorphism; Medicine; Genotype; Atrophy","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":[0.001382584,0.0007510725,0.001578613,0.0001804756,0.0004299483,0.00009838616,0.0007261282,0.001101844,0.0001100683],"category_scores_gemma":[0.002330458,0.0007214518,0.0006023348,0.0002661896,0.00005167651,0.000007084313,0.0006060179,0.0004391937,0.0001569831],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003433747,"about_ca_system_score_gemma":0.0002791055,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006207558,"about_ca_topic_score_gemma":0.00007125603,"domain_scores_codex":[0.9944217,0.001780662,0.001299866,0.0009990849,0.0005432321,0.0009554494],"domain_scores_gemma":[0.9962925,0.0003830093,0.001571932,0.001100607,0.0002862953,0.0003656566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00005317661,0.009919237,0.8680856,0.006600329,0.0111019,0.00005022866,0.0008795708,0.0001272892,0.006146463,0.000008754514,0.06713249,0.02989497],"study_design_scores_gemma":[0.000966704,0.0004826377,0.09134987,0.0009443064,0.005503097,0.000001916815,0.0001181608,0.00001374043,0.0001089259,0.0001253088,0.8986475,0.001737816],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.06037658,0.9365563,0.00004566909,0.00006756924,0.0005279224,0.001769821,0.0003668545,0.00005420453,0.0002350629],"genre_scores_gemma":[0.03852445,0.9489248,0.0001182572,0.0002548825,0.001141492,0.0004898586,0.004678851,0.0002218482,0.005645519],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.831515,"threshold_uncertainty_score":0.9995236,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0569797096915344,"score_gpt":0.3276141104173017,"score_spread":0.2706344007257673,"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."}}