Development of an Analysis Tool for Mitochondrial DNA Haplogrouping

Mitochondrial DNA has been used for studying population history and migration route of human populations through haplogroup analyses. Haplogroup is a gathering of same haplotypes, having same genetic mutations. It shows different distribution between each groups and difference of disease sensitivity depending on haplogroup has reported. Accurate haplogrouping is very important to population genetics and disease association studies. By NGS, complete mtDNA genome can be analyzed and can obtain large sequence information from individuals. Thus, a program that analyzes the mass sequence information speedily and determines haplogroup accurately is required. Here we present a mtDNA haplogrouping tool using previous statistical method that depended on enormous database. It uses classification algorithm method that increases the rate of dependence on database. In conclusion, our mtDNA haplogrouping tool can provide a useful solution to have an accurate haplogrouping result from complete mtDNA genome sequences.