Small variants in mtDNA Canary Islands - WES Illumina (ITER)

Study ID Alternative Stable ID Type
EGAS00001005678 Other

Study Description

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. Besides, because of its relevance, we also assess 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, most of the tools exhibit high accuracy for haplogroup classification irrespective of the input file used for the analysis. However, for short- read WES, Haplocheck and MixEmt were the most accurate tools. Based on the performance shown for WGS and WES, and the ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Small variants in mtDNA of several Canary Islanders sequenced with Illumina WGS and WES and Oxford Nanopore Technologies WGS.

Who archives the data?

There are no publications available