In the first scientific publication from The Genographic Project, a five-year effort to understand the human journey, researchers report their experience of genotyping human mitochondrial DNA during the first 18 months of the project.
Writing in PLoS Genetics, Doron Behar and colleagues describe the procedures used to generate, manage and analyze the genetic data from 78,590 public participants. They also provide the first anthropological insights in this unprecedented effort to map humanity’s genetic journey through the ages.
An ongoing debate in the field of human population genetics concerns the accurate classification of genetic lineages into distinct branches on the human family tree, known as haplogroups.
The rigorous genotyping and quality assurance strategies of the work done through The Genographic Project allow classification of mitochondrial lineages with unprecedented accuracy. This methodology is now being made publicly available along with the anonymous genetic data itself.
As well as making available a periodically-updated database comprising all data donated by participants, the researchers make available the Nearest Neighbor haplogroup prediction tool.
The Genographic Project was launched in 2005 using genetics as a tool to address anthropological questions on a global scale. At the core of the project is a consortium of ten scientific teams from around the world united by a uniform ethical and scientific framework who are responsible for sample collection and analysis in their respective regions.
The project allows members of the public to participate in a real-time anthropological genetics study by purchasing a participation kit from the Genographic website and donating the genetic results to the expanding database.
