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mitoLEAF: mitochondrial DNA Lineage, Evolution, Annotation Framework.

Nicole Huber1, Noah Hurmer1, Arne Dür2

  • 1Institute of Legal Medicine, Medical University of Innsbruck, Innsbruck 6020, Austria.

NAR Genomics and Bioinformatics
|June 12, 2025
PubMed
Summary
This summary is machine-generated.

mitoLEAF is a new, open-access repository for mitochondrial DNA (mtDNA) phylogenetic analysis, addressing the need for updated haplogroup classifications. It offers a collaborative, quality-controlled resource for researchers, enhancing genetic variation studies.

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Area of Science:

  • Genetics
  • Evolutionary Biology
  • Bioinformatics

Background:

  • Mitochondrial DNA (mtDNA) analysis is crucial for understanding genetic variation, human evolution, and diseases.
  • The cessation of Phylotree updates in 2016 created a need for a centralized, updated resource for mtDNA haplogroup classification.
  • Existing commercial resources often lack open access and reproducibility.

Purpose of the Study:

  • To establish mitoLEAF, a collaborative, freely accessible, and academically driven repository for mitochondrial phylogenetic analyses.
  • To provide a continuously updated, quality-controlled resource for mtDNA haplogroup classification.
  • To ensure transparency and scientific reproducibility in mitochondrial research.

Main Methods:

  • mitoLEAF is hosted on GitHub and supported by an interactive website.
  • Data is derived from GenBank, EMPOP, and peer-reviewed literature.
  • The repository is quality-controlled and excludes known pathogenic variants.

Main Results:

  • The initial release of mitoLEAF expands the haplogroup count from 5435 to 6409.
  • It integrates recent findings, enhancing phylogenetic accuracy.
  • The resource is openly accessible, promoting collaboration and reproducibility.

Conclusions:

  • mitoLEAF addresses the critical need for an updated and accessible mtDNA phylogenetic resource.
  • Its open-science approach fosters collaboration and continuous development in mitochondrial research.
  • Excluding pathogenic variants mitigates ethical concerns in reporting genetic findings.