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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...

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Detalles Bibliográficos
Autores principales: Rubin, Joshua Daniel, Vogel, Nicola Alexandra, Gopalakrishnan, Shyam, Sackett, Peter Wad, Renaud, Gabriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
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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