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Rapid and reproducible haplotyping of complete mitochondrial genomes using split k-mers

Stuehler, D. S.; Cano, L. M.; Heck, M.

2025-03-25 bioinformatics
10.1101/2025.03.23.644767 bioRxiv
Show abstract

Accurate phylogenetic analysis of mitochondrial haplotypes underpins a wide spectrum of biological inquiry. While multilocus sequence-based phylogenies are standard, inconsistent gene selection and trimming limit network reproducibility and disregard non-coding sequence. To examine alternative approaches, we tested split k-mer analysis (SKA) to reassess published mitogenome datasets of one mammalian and two insect species. SKA accurately haplotyped each dataset, improved polymorphism detection in the hemipteran Diaphorina citri and aided in the identification of D. citri haplotypes associated with the titer of "Candidatus Liberibacter asiaticus", the bacterium associated with citrus greening disease. We present a new mitogenome haplotyping method and script, ska-mtdna.py.

Published in BMC Genomics (predicted rank #2) · training set

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