A benchmarking of human mitochondrial DNA haplogroup classifiers from whole-genome and whole-exome sequence data.

ABSTRACT: The mitochondrial genome (mtDNA) is of interest for a range of fields including evolutionary, forensic, and medical genetics. Human mitogenomes can be classified into evolutionary related haplogroups that provide ancestral information and pedigree relationships. Because of this and the advent of high-throughput sequencing (HTS) technology, there is a diversity of bioinformatic tools for haplogroup classification. We present a benchmarking of the 11 most salient tools for human mtDNA classification using empirical whole-genome (WGS) and whole-exome (WES) short-read sequencing data from 36 unrelated donors. We also assessed the best performing tool in third-generation long noisy read WGS data obtained with nanopore technology for a subset of the donors. We found that, for short-read WGS, mos

SUBMITTER: Garcia-Olivares V 

PROVIDER: S-EPMC8519921 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature