{"id":"W4229040450","doi":"10.1002/alz.12396","title":"Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease","year":2021,"lang":"en","type":"article","venue":"Alzheimer s & Dementia","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institutes of Health; University of Toronto; National Institute on Aging; University of Washington; National Human Genome Research Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Vanderbilt University; University of Pennsylvania; European Commission; Austrian Science Fund; University of Miami","keywords":"Haplogroup; Mitochondrial DNA; Genetics; Gene; Biology; Allele; Exome sequencing; Disease; Exome; Mutation; Haplotype; Medicine; Internal medicine","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":[0.0007166687,0.0002848442,0.000243415,0.0009323054,0.0001981339,0.0005708985,0.0001666088,0.0002732719,0.002556944],"category_scores_gemma":[0.001942224,0.0001187158,0.0002180418,0.0006817592,0.0001611673,0.000174572,0.0004536049,0.0001625725,0.0001912352],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009050416,"about_ca_system_score_gemma":0.0001143107,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009389477,"about_ca_topic_score_gemma":0.002038172,"domain_scores_codex":[0.9996582,0.00007949034,0.0000453223,0.0001351432,0.00005068407,0.00003122874],"domain_scores_gemma":[0.9991096,0.0003887039,0.000282446,0.00008294702,0.00006747856,0.00006888955],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007249167,0.00004089286,0.9517277,0.0000908246,0.0004927513,0.0003159964,0.0001934281,0.0007832834,0.03135078,0.0001229998,0.0003682464,0.01378814],"study_design_scores_gemma":[0.00002409983,0.00006835649,0.993494,0.00002304053,0.0001432219,0.0005833349,0.0000882356,0.001650611,0.003037804,0.0002545722,0.0006244403,0.000008326874],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973685,0.000265177,0.0009084741,0.00003042109,0.000005166578,0.00000544251,0.001194943,0.00001301262,0.0002090196],"genre_scores_gemma":[0.9968711,0.0001477272,0.00121276,0.00002022537,0.000007225593,0.00001074911,0.001460725,0.000008215507,0.0002613619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002556944,"threshold_uncertainty_score":0.008553863,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01390657440585762,"score_gpt":0.2339092237088848,"score_spread":0.2200026493030272,"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."}}