{"id":"W4206314803","doi":"10.7554/elife.70382","title":"GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia","year":2022,"lang":"en","type":"article","venue":"eLife","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":129,"is_retracted":false,"has_abstract":true,"ca_institutions":"Impact; Thrombosis and Atherosclerosis Research Institute; Hamilton Health Sciences; McMaster University; Population Health Research Institute","funders":"Canadian Institutes of Health Research; Wellcome Trust","keywords":"Mitochondrial DNA; Mendelian randomization; Biology; Genetics; Genome-wide association study; Haplogroup; Mitochondrion; Genotype; Single-nucleotide polymorphism; Bioinformatics; Gene; Haplotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001134562,0.0001212069,0.0001748501,0.00005169165,0.0001080648,0.00001724044,0.00008801428,0.0000998812,0.0003647371],"category_scores_gemma":[0.00003193934,0.000127521,0.00004543615,0.00006943801,0.00009024824,0.000004967886,0.0002425028,0.0001019286,0.000004867364],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004024896,"about_ca_system_score_gemma":0.0000418073,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008718367,"about_ca_topic_score_gemma":0.0001726957,"domain_scores_codex":[0.9989429,0.0001413193,0.0002463967,0.000331341,0.0001631225,0.0001748972],"domain_scores_gemma":[0.9996328,0.000009593722,0.0000851349,0.0001721388,0.0000371702,0.00006318216],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003006105,0.0001137221,0.01087622,0.00001295258,0.00008425286,0.00002264977,0.0001600725,0.00001972657,0.9833699,0.0002195517,0.004727907,0.00009248003],"study_design_scores_gemma":[0.005375644,0.0008895918,0.007850381,0.0000112729,0.0002313005,0.0003240278,0.0004237306,0.00005759442,0.8890117,0.0002861854,0.09510682,0.0004317444],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970608,0.001210249,0.000171696,0.0001267873,0.0008295241,0.0001634098,0.00004403154,0.000007436634,0.000386032],"genre_scores_gemma":[0.9977306,0.0002480692,0.0004176092,0.0001546811,0.0003575302,0.00003591615,0.0001243851,0.00001441239,0.0009167966],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09435815,"threshold_uncertainty_score":0.5200154,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005046978513959443,"score_gpt":0.2209744189730576,"score_spread":0.2159274404590981,"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."}}