{"id":"W2781495400","doi":"10.1016/j.jalz.2017.11.013","title":"Assembly of 809 whole mitochondrial genomes with clinical, imaging, and fluid biomarker phenotyping","year":2018,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Human Genome Research Institute; National Institute of Biomedical Imaging and Bioengineering; Canadian Institutes of Health Research; National Institutes of Health; Genentech; U.S. National Library of Medicine; IXICO; H. Lundbeck A/S; Eisai; Northern California Institute for Research and Education; Pfizer; Biogen; BioClinica; F. Hoffmann-La Roche; Servier; Brigham Young University; University of Southern California; Novartis Pharmaceuticals Corporation; U.S. Department of Defense; Eli Lilly and Company; Bristol-Myers Squibb; Alzheimer's Disease Neuroimaging Initiative; Meso Scale Diagnostics; National Institute on Aging; Alzheimer's Association; Foundation for the National Institutes of Health","keywords":"Neuroimaging; Genome; Disease; Biomarker; Computational biology; Mitochondrial disease; Mitochondrial DNA; Alzheimer's disease; Biology; Mitochondrion; Genome Scan; Neuroscience; Imaging genetics; Phenotype; Evolutionary biology; Genetics; Medicine; Pathology; Gene; Allele","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":[0.004521902,0.001344169,0.001319677,0.002856211,0.002237001,0.002474888,0.001497884,0.001396234,0.004531767],"category_scores_gemma":[0.01313992,0.0010794,0.002437927,0.004199539,0.0009027158,0.001257163,0.003082564,0.002142362,0.005591868],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00123586,"about_ca_system_score_gemma":0.003051166,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005918232,"about_ca_topic_score_gemma":0.01313525,"domain_scores_codex":[0.9966263,0.0006612571,0.0004612472,0.001139082,0.000859199,0.000252957],"domain_scores_gemma":[0.9936996,0.001905787,0.0009190423,0.001495148,0.001530244,0.0004503065],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00435452,0.0006960407,0.1223839,0.005067778,0.002078584,0.001872628,0.003366938,0.03158743,0.5916646,0.01110314,0.0670597,0.1587647],"study_design_scores_gemma":[0.000576199,0.000970777,0.2204821,0.001008906,0.001240433,0.002019342,0.001305057,0.06750133,0.3124879,0.02524805,0.3664331,0.0007267525],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.2869788,0.002454608,0.4050367,0.001954235,0.0006871725,0.001415269,0.2815799,0.0117576,0.008135708],"genre_scores_gemma":[0.09924646,0.0006573693,0.5128978,0.0005424885,0.00008740174,0.0009250373,0.380906,0.00269479,0.002042657],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.005918232,"threshold_uncertainty_score":0.0239144,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02544127767070877,"score_gpt":0.2943136029239888,"score_spread":0.26887232525328,"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."}}