{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T18:50:29Z","timestamp":1790189429159,"version":"4.1.0"},"reference-count":59,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,11,1]],"date-time":"2024-11-01T00:00:00Z","timestamp":1730419200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T00:00:00Z","timestamp":1757808000000},"content-version":"am","delay-in-days":317,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"US Government National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R21HL144877"],"award-info":[{"award-number":["R21HL144877"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01AG059727"],"award-info":[{"award-number":["R01AG059727"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["R01HL15569"],"award-info":[{"award-number":["R01HL15569"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mitochondrion"],"published-print":{"date-parts":[[2024,11]]},"DOI":"10.1016\/j.mito.2024.101954","type":"journal-article","created":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T07:14:47Z","timestamp":1725693287000},"page":"101954","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application"],"prefix":"10.1016","volume":"79","author":[{"given":"Xianbang","family":"Sun","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Bulekova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Lai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Achilleas N.","family":"Pitsillides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuankai","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuqing","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian","family":"Yong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura M.","family":"Raffield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerome I.","family":"Rotter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen S.","family":"Rich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goncalo","family":"Abecasis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"April P.","family":"Carson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramachandran S.","family":"Vasan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua C.","family":"Bis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce M.","family":"Psaty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Boerwinkle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette L.","family":"Fitzpatrick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia L.","family":"Satizabal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan E.","family":"Arking","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.mito.2024.101954_b0005","first-page":"257","article-title":"Four novel mutations in the mitochondrial ND4 gene of complex I in patients with multiple sclerosis","volume":"11","author":"Alharbi","year":"2019","journal-title":"Biomed. Rep."},{"issue":"2","key":"10.1016\/j.mito.2024.101954_b0010","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1038\/13779","article-title":"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA","volume":"23","author":"Andrews","year":"1999","journal-title":"Nat. Genet."},{"issue":"4","key":"10.1016\/j.mito.2024.101954_b0015","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1016\/j.ajhg.2012.03.002","article-title":"A \u201cCopernican\u201d reassessment of the human mitochondrial DNA tree from its root","volume":"90","author":"Behar","year":"2012","journal-title":"Am. J. Hum. Genet."},{"issue":"9","key":"10.1016\/j.mito.2024.101954_b0020","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1093\/aje\/kwf113","article-title":"Multi-Ethnic Study of Atherosclerosis: objectives and design","volume":"156","author":"Bild","year":"2002","journal-title":"Am. J. Epidemiol."},{"issue":"2","key":"10.1016\/j.mito.2024.101954_b0025","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1002\/jrsm.12","article-title":"A basic introduction to fixed-effect and random-effects models for meta-analysis","volume":"1","author":"Borenstein","year":"2010","journal-title":"Res. Synth. Methods"},{"issue":"2","key":"10.1016\/j.mito.2024.101954_b0030","first-page":"378","article-title":"A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I","volume":"51","author":"Brown","year":"1992","journal-title":"Am. J. Hum. Genet."},{"issue":"21","key":"10.1016\/j.mito.2024.101954_b0035","doi-asserted-by":"crossref","first-page":"3115","DOI":"10.1093\/bioinformatics\/btu483","article-title":"MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing","volume":"30","author":"Calabrese","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.mito.2024.101954_b0040","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1146\/annurev.bi.59.070190.003033","article-title":"Structure and function of cytochrome c oxidase","volume":"59","author":"Capaldi","year":"1990","journal-title":"Annu. Rev. Biochem"},{"issue":"2","key":"10.1016\/j.mito.2024.101954_b0045","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.ajhg.2018.12.012","article-title":"Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole-genome sequencing studies","volume":"104","author":"Chen","year":"2019","journal-title":"Am. J. Hum. Genet."},{"issue":"1\u20132","key":"10.1016\/j.mito.2024.101954_b0050","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.mrfmmm.2006.07.006","article-title":"A novel mitochondrial DNA missense mutation at G3421A in a family with maternally inherited diabetes and deafness","volume":"602","author":"Chen","year":"2006","journal-title":"Mutat. Res."},{"issue":"10","key":"10.1016\/j.mito.2024.101954_b0055","doi-asserted-by":"crossref","first-page":"4221","DOI":"10.1073\/pnas.89.10.4221","article-title":"MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts","volume":"89","author":"Chomyn","year":"1992","journal-title":"PNAS"},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0060","doi-asserted-by":"crossref","first-page":"279","DOI":"10.2105\/AJPH.41.3.279","article-title":"Epidemiological approaches to heart disease: the Framingham Study","volume":"41","author":"Dawber","year":"1951","journal-title":"Am. J. Public Health Nations Health"},{"issue":"7","key":"10.1016\/j.mito.2024.101954_b0065","doi-asserted-by":"crossref","first-page":"e1005306","DOI":"10.1371\/journal.pgen.1005306","article-title":"Assessing mitochondrial DNA variation and copy number in lymphocytes of \u223c2,000 sardinians using tailored sequencing analysis tools","volume":"11","author":"Ding","year":"2015","journal-title":"PLoS Genet."},{"issue":"4","key":"10.1016\/j.mito.2024.101954_b0070","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/0091-7435(75)90037-7","article-title":"The framingham offspring study","volume":"4","author":"Feinleib","year":"1975","journal-title":"De. Preliminary Data. Prev. Med."},{"key":"10.1016\/j.mito.2024.101954_b0075","first-page":"239 pp.","volume":"ix","author":"Fisher","year":"1925","journal-title":"Statistical Methods for Research Workers"},{"issue":"9","key":"10.1016\/j.mito.2024.101954_b0080","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1002\/iub.86","article-title":"Cytochrome c oxidase biogenesis: new levels of regulation","volume":"60","author":"Fontanesi","year":"2008","journal-title":"IUBMB Life"},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0085","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/1047-2797(91)90005-W","article-title":"The Cardiovascular Health Study: design and rationale","volume":"1","author":"Fried","year":"1991","journal-title":"Ann. Epidemiol."},{"issue":"6302","key":"10.1016\/j.mito.2024.101954_b0090","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/348651a0","article-title":"A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies","volume":"348","author":"Goto","year":"1990","journal-title":"Nature"},{"issue":"1","key":"10.1016\/j.mito.2024.101954_b0095","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1159\/000288704","article-title":"A data-adaptive sum test for disease association with multiple common or rare variants","volume":"70","author":"Han","year":"2010","journal-title":"Hum. Hered."},{"key":"10.1016\/j.mito.2024.101954_b0100","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1159\/000072041","article-title":"LHON and other optic nerve atrophies: the mitochondrial connection","volume":"37","author":"Howell","year":"2003","journal-title":"Dev. Ophthalmol."},{"issue":"15","key":"10.1016\/j.mito.2024.101954_b0105","doi-asserted-by":"crossref","DOI":"10.3390\/nu14153112","article-title":"The potential of the mediterranean diet to improve mitochondrial function in experimental models of obesity and metabolic syndrome","volume":"14","author":"Khalil","year":"2022","journal-title":"Nutrients"},{"issue":"2","key":"10.1016\/j.mito.2024.101954_b0110","first-page":"480","article-title":"Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes","volume":"12","author":"King","year":"1992","journal-title":"Mol. Cell Biol."},{"issue":"1","key":"10.1016\/j.mito.2024.101954_b0115","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ajhg.2018.12.001","article-title":"Associations of mitochondrial and nuclear mitochondrial variants and genes with seven metabolic traits","volume":"104","author":"Kraja","year":"2019","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.mito.2024.101954_b0120","doi-asserted-by":"crossref","first-page":"762","DOI":"10.1093\/biostatistics\/kxs014","article-title":"Optimal tests for rare variant effects in sequencing association studies","volume":"13","author":"Lee","year":"2012","journal-title":"Biostatistics"},{"issue":"1","key":"10.1016\/j.mito.2024.101954_b0125","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.ajhg.2014.06.009","article-title":"Rare-variant association analysis: study designs and statistical tests","volume":"95","author":"Lee","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"8","key":"10.1016\/j.mito.2024.101954_b0130","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1136\/jmg.2004.020230","article-title":"Molecular analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in paediatric subjects with non-syndromic hearing loss","volume":"41","author":"Li","year":"2004","journal-title":"J. Med. Genet."},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0135","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1016\/j.ajhg.2008.06.024","article-title":"Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data","volume":"83","author":"Li","year":"2008","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0140","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1016\/j.ajhg.2019.01.002","article-title":"ACAT: a fast and powerful P value combination method for rare-variant analysis in sequencing studies","volume":"104","author":"Liu","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mito.2024.101954_b0145","doi-asserted-by":"crossref","unstructured":"Liu, X., Longchamps, R.J., Wiggins, K.L., Raffield, L.M., Bielak, L.F., Zhao, W., et al., 2021. Association of mitochondrial DNA copy number with cardiometabolic diseases. Cell Genomics. 1(1).","DOI":"10.1016\/j.xgen.2021.100006"},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0150","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s00439-018-1873-4","article-title":"Deep sequencing of the mitochondrial genome reveals common heteroplasmic sites in NADH dehydrogenase genes","volume":"137","author":"Liu","year":"2018","journal-title":"Hum. Genet."},{"key":"10.1016\/j.mito.2024.101954_b0155","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.mito.2021.07.004","article-title":"Presence and transmission of mitochondrial heteroplasmic mutations in human populations of European and African ancestry","volume":"60","author":"Liu","year":"2021","journal-title":"Mitochondrion"},{"issue":"2","key":"10.1016\/j.mito.2024.101954_b0160","first-page":"111","article-title":"Mitochondrial gene variation in type 2 diabetes mellitus: detection of a novel mutation associated with maternally inherited diabetes in a Chinese family","volume":"113","author":"Ma","year":"2000","journal-title":"Chin. Med. J. (Engl.)"},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0165","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1055\/s-2001-14834","article-title":"Molecular and clinical aspects of mitochondrial diabetes mellitus","volume":"109","author":"Maassen","year":"2001","journal-title":"Exp. Clin. Endocrinol. Diabetes"},{"key":"10.1016\/j.mito.2024.101954_b0170","unstructured":"Scheffler, I.E., 2008. Mitochondria, second ed., Wiley-Liss, Hoboken, N.J., 2008. xviii, 462 p., 12 p. of plates p."},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0175","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1006\/bbrc.2000.3867","article-title":"A patient with type 2 diabetes mellitus associated with mutations in calcium sensing receptor gene and mitochondrial DNA","volume":"278","author":"Ohkubo","year":"2000","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.mito.2024.101954_b0180","unstructured":"R Core Team, 2019. R: A language and environment for statistical computing."},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0185","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1038\/ejhg.2012.143","article-title":"Adaptive clustering and adaptive weighting methods to detect disease associated rare variants","volume":"21","author":"Sha","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.mito.2024.101954_b0190","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.2174\/092986709787846578","article-title":"Mitochondrial respiratory complex I: structure, function and implication in human diseases","volume":"16","author":"Sharma","year":"2009","journal-title":"Curr. Med. Chem."},{"issue":"8","key":"10.1016\/j.mito.2024.101954_b0195","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1093\/hmg\/ddr043","article-title":"Neutral mitochondrial heteroplasmy and the influence of aging","volume":"20","author":"Sondheimer","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2024.101954_b0200","doi-asserted-by":"crossref","DOI":"10.3389\/fphys.2021.660068","article-title":"Physical exercise: a novel tool to protect mitochondrial health","volume":"12","author":"Sorriento","year":"2021","journal-title":"Front. Physiol."},{"issue":"11","key":"10.1016\/j.mito.2024.101954_b0205","doi-asserted-by":"crossref","first-page":"1328","DOI":"10.1093\/aje\/kwm021","article-title":"The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: design, recruitment, and initial examination","volume":"165","author":"Splansky","year":"2007","journal-title":"Am. J. Epidemiol."},{"issue":"9","key":"10.1016\/j.mito.2024.101954_b0210","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1038\/nrg3966","article-title":"The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease","volume":"16","author":"Stewart","year":"2015","journal-title":"Nat. Rev. Genet."},{"issue":"3","key":"10.1016\/j.mito.2024.101954_b0215","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0304-3940(02)00199-4","article-title":"Evidence for in vivo production of Humanin peptide, a neuroprotective factor against Alzheimer's disease-related insults","volume":"324","author":"Tajima","year":"2002","journal-title":"Neurosci. Lett."},{"issue":"7845","key":"10.1016\/j.mito.2024.101954_b0220","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","article-title":"Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program","volume":"590","author":"Taliun","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.mito.2024.101954_b0225","doi-asserted-by":"crossref","unstructured":"The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. Am. J. Epidemiol. 129(4):687-702.","DOI":"10.1093\/oxfordjournals.aje.a115184"},{"key":"10.1016\/j.mito.2024.101954_b0230","unstructured":"TOPMed Whole Genome Sequencing Methods: Freeze 8 2021 [Available from: https:\/\/topmed.nhlbi.nih.gov\/topmed-whole-genome-sequencing-methods-freeze-8."},{"issue":"10","key":"10.1016\/j.mito.2024.101954_b0235","doi-asserted-by":"crossref","first-page":"253","DOI":"10.15698\/cst2018.10.158","article-title":"Mitochondrial stress management: a dynamic journey","volume":"2","author":"Valera-Alberni","year":"2018","journal-title":"Cell Stress."},{"issue":"6","key":"10.1016\/j.mito.2024.101954_b0240","doi-asserted-by":"crossref","first-page":"746","DOI":"10.2337\/diab.43.6.746","article-title":"Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene","volume":"43","author":"van den Ouweland","year":"1994","journal-title":"Diabetes"},{"issue":"16","key":"10.1016\/j.mito.2024.101954_b0245","doi-asserted-by":"crossref","first-page":"1797","DOI":"10.1093\/hmg\/11.16.1797","article-title":"Metabolic consequences of a novel missense mutation of the mtDNA CO I gene","volume":"11","author":"Varlamov","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mito.2024.101954_b0250","series-title":"Fundamentals of biochemistry: life at the molecular level","author":"Voet","year":"2006"},{"issue":"4","key":"10.1016\/j.mito.2024.101954_b0255","doi-asserted-by":"crossref","first-page":"1405","DOI":"10.1172\/JCI61398","article-title":"A mitochondrial bioenergetic etiology of disease","volume":"123","author":"Wallace","year":"2013","journal-title":"J. Clin. Invest."},{"issue":"1","key":"10.1016\/j.mito.2024.101954_b0260","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.cell.2015.08.067","article-title":"Mitochondrial DNA variation in human radiation and disease","volume":"163","author":"Wallace","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.mito.2024.101954_b0265","unstructured":"Wilson, J.G., Rotimi, C.N., Ekunwe, L., Royal, C.D., Crump, M.E., Wyatt, S.B., et al., 2005. Study design for genetic analysis in the Jackson Heart Study. Ethn Dis. 15(4 Suppl 6), S6-30-7."},{"issue":"10","key":"10.1016\/j.mito.2024.101954_b0270","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.ejmg.2012.06.002","article-title":"Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?","volume":"55","author":"Wortmann","year":"2012","journal-title":"Eur. J. Med. Genet."},{"issue":"1","key":"10.1016\/j.mito.2024.101954_b0275","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1016\/j.ajhg.2011.05.029","article-title":"Rare-variant association testing for sequencing data with the sequence kernel association test","volume":"89","author":"Wu","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"5","key":"10.1016\/j.mito.2024.101954_b0280","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1007\/s00439-006-0154-9","article-title":"A reappraisal of complete mtDNA variation in East Asian families with hearing impairment","volume":"119","author":"Yao","year":"2006","journal-title":"Hum. Genet."},{"issue":"29","key":"10.1016\/j.mito.2024.101954_b0285","doi-asserted-by":"crossref","first-page":"10654","DOI":"10.1073\/pnas.1403521111","article-title":"Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals","volume":"111","author":"Ye","year":"2014","journal-title":"PNAS"},{"issue":"12","key":"10.1016\/j.mito.2024.101954_b0290","doi-asserted-by":"crossref","first-page":"11185","DOI":"10.18632\/aging.103534","article-title":"The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan","volume":"12","author":"Yen","year":"2020","journal-title":"Aging (Albany NY)"},{"key":"10.1016\/j.mito.2024.101954_b0295","first-page":"123","article-title":"Association of the mutations in the human mitochondrial genome with chronic non-inflammatory diseases: type 2 diabetes, hypertension and different types of cardiomyopathy","volume":"3","author":"Zhelankin","year":"2012","journal-title":"Patol. Fiziol. Eksp. Ter."}],"container-title":["Mitochondrion"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724924001120?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1567724924001120?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,13]],"date-time":"2024-11-13T23:24:17Z","timestamp":1731540257000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1567724924001120"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":59,"alternative-id":["S1567724924001120"],"URL":"https:\/\/doi.org\/10.1016\/j.mito.2024.101954","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2024.01.12.24301233","asserted-by":"object"}]},"ISSN":["1567-7249"],"issn-type":[{"value":"1567-7249","type":"print"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Association analysis of mitochondrial DNA heteroplasmic variants: Methods and application","name":"articletitle","label":"Article Title"},{"value":"Mitochondrion","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mito.2024.101954","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Elsevier B.V. and Mitochondria Research Society. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"101954"}}