{"id":"W2945018607","doi":"10.1126/science.aau6520","title":"Germline selection shapes human mitochondrial DNA diversity","year":2019,"lang":"en","type":"article","venue":"Science","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":251,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Steno Diabetes Center Aarhus; NIHR Sheffield Biomedical Research Centre; Leeds Biomedical Research Centre; Great Ormond Street Institute of Child Health; Biotechnology and Biological Sciences Research Council; NIHR Cambridge Biomedical Research Centre; NIHR BioResource; Medical Research Council; Servier; Novo Nordisk Fonden; University College London Hospitals NHS Foundation Trust; Northern Counties Kidney Research Fund; Cambridge University Hospitals; KU Leuven; University of Oxford; Moorfields Eye Hospital NHS Foundation Trust; Queen's University; Novo Nordisk; Queen's University Belfast; Rosetrees Trust; University of Nottingham; UK Research and Innovation; Sheffield Teaching Hospitals NHS Foundation Trust; AstraZeneca; European Commission; Chelsea and Westminster Hospital NHS Foundation Trust; King's College London; Kidney Research UK; University of Cambridge; British Heart Foundation; Directorate for Biological Sciences; NHS Blood and Transplant; National Institute for Health and Care Research; Sanofi; Barts Health NHS Trust; Wellcome; Kids Kidney Research; Lundbeckfonden; University College London; Imperial College Healthcare NHS Trust; Horizon 2020 Framework Programme; Royal Brompton and Harefield NHS Foundation Trust; Nottingham University Hospitals NHS Trust; Wellcome Trust; Cancer Research UK; NIHR Oxford Biomedical Research Centre; Royal Free London NHS Foundation Trust; University Hospitals Birmingham NHS Foundation Trust; Bowel Cancer UK; Great Ormond Street Hospital for Children; NHS Greater Glasgow and Clyde; Sandwell and West Birmingham Hospitals NHS Trust; Moorfields Eye Charity; Imperial College London; Pfizer; NIHR Great Ormond Street Hospital Biomedical Research Centre; Eli Lilly and Company; Evelyn Trust; Bristol-Myers Squibb","keywords":"Heteroplasmy; Mitochondrial DNA; Biology; Genetics; Germline; Human mitochondrial genetics; Genome; Selection (genetic algorithm); Genetic diversity; mtDNA control region; Evolutionary biology; Haplotype; Allele; Gene; Population","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":[],"consensus_categories":[],"category_scores_codex":[0.0001552716,0.00007339479,0.00006882197,0.00005754209,0.0003573261,0.00002454106,0.0002506839,0.00007369327,0.0003536313],"category_scores_gemma":[0.00005553912,0.00006926341,0.00004256602,0.0002007513,0.0001648835,0.000008907718,0.0002766001,0.00006087132,0.0001756304],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001464065,"about_ca_system_score_gemma":0.00006613794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001473601,"about_ca_topic_score_gemma":0.00004191598,"domain_scores_codex":[0.9991429,0.00002561841,0.00008408248,0.0003837149,0.0001663648,0.0001972803],"domain_scores_gemma":[0.9996429,0.00000356644,0.00004082707,0.0001550972,0.0000895085,0.00006811826],"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":[0.00002953231,0.00001520768,0.01153954,0.000001908998,0.000002211706,3.796947e-7,0.00002813448,0.00002126159,0.9872011,0.0002213954,0.0007907872,0.0001485782],"study_design_scores_gemma":[0.001046497,0.0008127146,0.044725,0.000006012793,0.00001142796,0.00003670115,0.00005477005,0.0001813079,0.8738747,0.0002918924,0.07864029,0.000318634],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9933679,0.00001896446,0.0009568735,0.00005339238,0.001296362,0.0001252557,0.000003142723,0.00001739627,0.004160774],"genre_scores_gemma":[0.9927933,0.00000472581,0.0005989572,0.0002752489,0.0004817545,0.000002486153,0.00001254385,0.000004430065,0.005826571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1133263,"threshold_uncertainty_score":0.3872015,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01178368457442167,"score_gpt":0.2550442110441035,"score_spread":0.2432605264696819,"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."}}