The Genographic Project public participation mitochondrial DNA database

Area of Science:

• Anthropological Genetics
• Population Genetics
• Human Migration Studies

Background:

• The Genographic Project aims to study ancient human migrations using genetic data.
• Public participation is integral, with individuals submitting samples for analysis.
• A key objective is to build a comprehensive, open-source genetic database.

Purpose of the Study:

• To report on the initial 18 months of public engagement in the Genographic Project.
• To detail the creation of the largest standardized human mitochondrial DNA (mtDNA) database.
• To introduce a novel, more accurate method for mtDNA haplogroup prediction.

Main Methods:

• Collected 78,590 human mitochondrial DNA (mtDNA) genotypes from public participants.
• Employed direct sequencing of the mtDNA Hypervariable Segment I (HVS-I).
• Utilized genotyping of 22 coding-region Single Nucleotide Polymorphisms (SNPs) and phylogenetic computational quality checks.

Main Results:

• Established the largest standardized human mtDNA database to date.
• Developed a nearest neighbor-based haplogroup prediction methodology.
• Demonstrated this new method's superiority over classic rule-based approaches for HVS-I motifs.

Conclusions:

• The Genographic Project successfully created a large, informative mtDNA database.
• The nearest neighbor haplogroup prediction tool offers enhanced accuracy.
• New resources, including the database and prediction tool, are available to the scientific community and public.