Article

HaploCart: Human mtDNA Haplogroup Classification Using a Pangenomic Reference Graph

2022-09-26

Abstract excerpt

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 in assignment. We present HaploCart , an mtDNA haplogroup classifier which uses VG ’s pangenomic reference graph fra...

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Literature Corpus work: beb7a07b-058f-5b09-831d-7897504cd53e
DOI: 10.1101/2022.09.23.509203

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