JSON
Lankheet I, Vicente M, Barbieri C, Schlebusch C
BMC Genom Data 22 (1) 43 [2021-10-21; online 2021-10-21]
Mitochondrial haplogroup assignment is an important tool for forensics and evolutionary genetics. African populations are known to display a high diversity of mitochondrial haplogroups. In this research we explored mitochondrial haplogroup assignment in African populations using commonly used genome-wide SNP arrays. We show that, from eight commonly used SNP arrays, two SNP arrays outperform the other arrays when it comes to the correct assignment of African mitochondrial haplogroups. One array enables the recognition of 81% of the African mitochondrial haplogroups from our compiled dataset of full mitochondrial sequences. Other SNP arrays were able to assign 4-62% of the African mitochondrial haplogroups present in our dataset. We also assessed the performance of available software for assigning mitochondrial haplogroups from SNP array data. These results provide the first cross-checked quantification of mitochondrial haplogroup assignment performance from SNP array data. Mitochondrial haplogroup frequencies inferred from most common SNP arrays used for human population analysis should be considered with caution.
Bioinformatics Support for Computational Resources [Service]
PubMed 34674637
DOI 10.1186/s12863-021-01000-2
Crossref 10.1186/s12863-021-01000-2
pmc: PMC8532338
pii: 10.1186/s12863-021-01000-2