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dc.contributor.authorGiannakis, Konstantinos
dc.contributor.authorBroz, Amanda K.
dc.contributor.authorSloan, Daniel B.
dc.contributor.authorJohnston, Iain
dc.date.accessioned2024-03-22T13:26:08Z
dc.date.available2024-03-22T13:26:08Z
dc.date.created2023-06-17T12:17:34Z
dc.date.issued2023
dc.identifier.issn2160-1836
dc.identifier.urihttps://hdl.handle.net/11250/3123886
dc.description.abstractMitochondrial DNA heteroplasmy samples can shed light on vital developmental and genetic processes shaping mitochondrial DNA populations. The sample means and sample variance of a set of heteroplasmy observations are typically used both to estimate bottleneck sizes and to perform fits to the theoretical “Kimura” distribution in seeking evidence for mitochondrial DNA selection. However, each of these applications raises problems. Sample statistics do not generally provide optimal fits to the Kimura distribution and so can give misleading results in hypothesis testing, including false positive signals of selection. Using sample variance can give misleading results for bottleneck size estimates, particularly for small samples. These issues can and do lead to false positive results for mitochondrial DNA mechanisms—all published experimental datasets we re-analyzed, reported as displaying departures from the Kimura model, do not in fact give evidence for such departures. Here we outline a maximum likelihood approach that is simple to implement computationally and addresses all of these issues. We advocate the use of maximum likelihood fits and explicit hypothesis tests, not fits and Kolmogorov–Smirnov tests via summary statistics, for ongoing work with mitochondrial DNA heteroplasmy.en_US
dc.language.isoengen_US
dc.publisherOxford University Pressen_US
dc.rightsNavngivelse 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/deed.no*
dc.titleAvoiding misleading estimates using mtDNA heteroplasmy statistics to study bottleneck size and selectionen_US
dc.typeJournal articleen_US
dc.typePeer revieweden_US
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2023 The Author(s)en_US
dc.source.articlenumberjkad068en_US
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2
dc.identifier.doi10.1093/g3journal/jkad068
dc.identifier.cristin2155440
dc.source.journalG3: Genes, Genomes, Geneticsen_US
dc.identifier.citationG3: Genes, Genomes, Genetics. 2023, 13 (6), jkad068.en_US
dc.source.volume13en_US
dc.source.issue6en_US


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Navngivelse 4.0 Internasjonal
Except where otherwise noted, this item's license is described as Navngivelse 4.0 Internasjonal