{"id":"W3215719803","doi":"10.1007/s00439-021-02394-w","title":"Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation","year":2021,"lang":"en","type":"article","venue":"Human Genetics","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"NHLBI Division of Intramural Research; National Institute on Aging; Medical Research Council; Universität Greifswald; Bundesministerium für Bildung und Forschung; National Institutes of Health; National Heart, Lung, and Blood Institute; Translational Genomics Research Institute; Broad Institute; Ministry of Cultural Affairs; National Center for Advancing Translational Sciences; Wellcome Trust; University of Bristol; School of Medicine, Boston University","keywords":"Biology; Mitochondrial DNA; Genetics; Single-nucleotide polymorphism; Genome-wide association study; Gene; Mitochondrion; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001158844,0.0001715135,0.0003693109,0.0001357376,0.00007539126,0.00002904424,0.0001040651,0.0002242784,0.0002391863],"category_scores_gemma":[0.0000962509,0.0001871395,0.0001088121,0.0004480133,0.0000747439,0.000005847226,0.00007150094,0.0001004761,0.00000539348],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001478173,"about_ca_system_score_gemma":0.00006780095,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001224799,"about_ca_topic_score_gemma":0.0002073564,"domain_scores_codex":[0.9985637,0.0001601309,0.0004795739,0.0004623092,0.0001295824,0.0002047208],"domain_scores_gemma":[0.9990807,0.00002220894,0.0001769684,0.0004055224,0.0002371001,0.00007752715],"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":[0.0001045855,0.00006176332,0.05062237,0.00001461579,0.000267486,0.000004085205,0.0001495421,0.0004950902,0.9474895,0.0001479319,0.0005634952,0.00007953408],"study_design_scores_gemma":[0.001065518,0.00007053614,0.1827468,0.000004836917,0.0002358056,0.000009104827,0.00006065098,0.00006256795,0.8011425,0.0001611507,0.01422469,0.0002158659],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961305,0.0003360395,0.002593223,0.00008121484,0.0001136773,0.0002450455,0.00004088533,0.000009235357,0.0004501325],"genre_scores_gemma":[0.9943104,0.0003287075,0.002493406,0.0003743152,0.0002578748,0.00002782946,0.001496508,0.0000251802,0.000685722],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.146347,"threshold_uncertainty_score":0.7631326,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01461800450927955,"score_gpt":0.2663878917770028,"score_spread":0.2517698872677233,"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."}}