{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003340772,0.00007243778,0.0001918207,0.0004917767,0.0002330967,0.0005480421,0.000162146,0.0002567123,0.0007917432],"category_scores_gemma":[0.001507141,0.0001210398,0.00009558721,0.0002772321,0.0004144878,0.0002658587,0.0004848886,0.0001994948,0.0001971687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002526707,"about_ca_system_score_gemma":0.0001498121,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001258224,"about_ca_topic_score_gemma":0.003201375,"domain_scores_codex":[0.9997247,0.00006630449,0.00000930909,0.0001156172,0.00004615166,0.00003792095],"domain_scores_gemma":[0.99966,0.0001216263,0.00007461573,0.00003777621,0.00005551997,0.00005041151],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0002486201,0.00003115225,0.6565043,0.00005645603,0.0001574758,0.000713499,0.002096141,0.003285391,0.2960802,0.003189718,0.0003996996,0.03723736],"study_design_scores_gemma":[0.00001787426,0.0001347952,0.9737586,0.0000190408,0.00005824745,0.0009596556,0.0007317539,0.006490757,0.01145289,0.003870517,0.002472939,0.0000327998],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984438,0.0001979696,0.0006497166,0.00003398965,0.000002273141,0.00000152866,0.00004336319,0.000008878558,0.0006185339],"genre_scores_gemma":[0.9996643,0.00004759659,0.0001097575,0.00001372739,0.000002570818,0.000001007711,0.00003200657,0.000004642594,0.0001242962],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001258224,"threshold_uncertainty_score":0.002648592,"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."}}