The 1000 Genomes Project, announced today and led by scientists from around the world, builds on the groundbreaking HapMap project. Launched in 2002, HapMap spotlighted regions of the genome that vary from person to person.
Any two people have 99% identical DNA; it’s in the difference that the genetic roots of human development and disease variance exist. By marking "hotspots" where people tend to vary, the HapMap allows scientists to ignore overlap and focus on genomic areas of likely relevance.
Whole-genome association studies, considered to be the gold standard of modern genetics, owe their existence to the HapMap. In just a few years they’ve produced insights into whole networks of genes that appear implicated in many diseases, and have largely supplanted a hunt-for-a-single-gene model that geneticists now consider outdated.
But for all its virtues, the HapMap is relatively limited: it only compared genomes from people in Nigeria, China and Japan, as well as people of Western
European ancestry in the United States.
The 1000 Genomes Project promises to scan not only people from those areas, but from China, Italy and Kenya, along with Americans from
Gujarat, China and Mexico. The new project will also tag areas where just one in a hundred people varies from the norm. The HapMap only tagged areas where at least 10% of people. In short, the HapMap was a magnifying glass; the 1000 Genome Project is a microscope.
International consortium announces the 1000 Genomes Project [press release]
Image: Environmental Health Perspectives
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