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HaploCart: Human mtDNA haplogroup classification using a pangenomic reference graph
Current mitochondrial DNA (mtDNA) haplogroup classification tools map reads to a single reference genome and perform inference based on the detected mutations to this reference. This approach biases haplogroup assignments towards the reference and prohibits accurate calculations of the uncertainty i...
Autores principales: | Rubin, Joshua Daniel, Vogel, Nicola Alexandra, Gopalakrishnan, Shyam, Sackett, Peter Wad, Renaud, Gabriel |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10281577/ https://www.ncbi.nlm.nih.gov/pubmed/37285390 http://dx.doi.org/10.1371/journal.pcbi.1011148 |
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