Getting to know your roots

The Genographic Project aims to map historical human migration patterns through collecting and analyzing DNA samples from many people all over the world. The project has already been around for almost two years, and perhaps its main attraction resides in that everybody can find out about their own personal lineage, if they purchase the genographic project public participation kit. After purchasing the kit, one may use it to acquire a DNA sample and then mail it off to one of the research laboratories, where it will be decoded. The participants will remain anonymous, unless they explicitly want to make their results public; they may also receive a printable certificate of participation, a map and a haplogroup overview to document their deep ancestry.

In June 2007, the Genographic Project announced its first publication - a report on human mitochondrial DNA data from the first 18 months of the project. It includes anonymous data from almost 79,000 public participants and important insights into modern genetic diversity. The database is very informative with respect to mtDNA phylogeny and mutational dynamics, and its size allows for a nearest-neighbor-based methodology for mtDNA haplogroup prediction based on HVS-I motifs (which is superior to classic rule-based approaches).

Below we present a theoretically evolving tree. Coding-region polymorphisms are in black. HVS-I polymorphism are in red. Samples A and B share HVS-I haplotype 16303 by descent. Samples A and D, or B and D share HVS-I haplotype 16303 by state and as a result of homoplasy. Samples C and E are identical by state as a result of a back mutation in position 16303 in sample C as marked by the “BM” designation.