In the journal Nature, the 1000 Genomes Project, an international public-private consortium, published the most comprehensive map of these genetic differences, called variations, estimated to contain approximately 95 percent of the genetic variation of any person on Earth.
Researchers produced the map using next-generation DNA sequencing technologies to systematically characterize human genetic variation in 180 people in three pilot studies. Moreover, the full scale-up from the pilots is already under way, with data already collected from more than 1,000 people.
“McGill is very proud to have played a leadership role in the Sampling and ELSI (Ethical, Legal, and Social Issues) Committee,” said Bartha Maria Knoppers, O.C., Ph.D., of the McGill University Centre of Genomics and Policy, and co-chair of the committee.
“We played a unique role, putting the sampling design people with the ethics people – selecting populations and criteria and ensuring consistency across the ethical framework with people in the field. Our involvement will continue as we move into full-scale studies.” 2,500 samples from 27 populations will be studied over the next two years.
Data from the pilot studies and the full-scale project are freely available on the project web site, www.1000genomes.org.