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- 17 April 2014 12:48 pm , Vol. 344 , #6181
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Haplotype Map Launched
29 October 2002 (All day)
A consortium of six nations is diving into a massive new genomics project to pinpoint the genes behind common diseases. After months of passing the hat among countries and private companies, the U.S. National Institutes of Health (NIH) announced today that it has garnered the $100 million the 3-year effort to construct a so-called haplotype map is likely to cost. But even as the project was announced with considerable fanfare, many details remained sketchy.
The idea for the HapMap, as it's informally known, arose soon after scientists discovered that the human genome has a surprisingly structured architecture. Large blocks of DNA, called haplotypes, are thought to come in only a handful of variants. A popular theory is that different haplotypes could mean the difference between health and ailments ranging from cancer to diabetes. Researchers plan to examine 200 to 400 genetic samples from four populations in Africa, Asia, and the United States. (Previous studies have shown that haplotype patterns differ in part based on ancestry.)
Enthusiastic about the HapMap's potential to provide medical answers that the full human genome sequence has yet to offer, NIH paved the way, planning a $40 million early this year. Since then, the Canadian government kicked in a little under $10 million and, more recently, the Wellcome Trust Sanger Institute in Hinxton, U.K., about $25 million. Japan, China, and the SNP Consortium--a public-private group seeking genetic differences among different versions of the human genome--are also adding to the pot.
Work is expected to begin as soon as participants at genome centers in the United States and abroad agree on some ground rules for the project, perhaps the most unwieldy collaboration since the sequencing of the human genome. They have yet to determine, for instance, how data collection will be standardized, precisely how the map will be structured, or how the work will be divvied up.
"We've learned how to find good ways to work together," says David Bentley, head of human genetics at the Sanger Institute. But he notes that unlike the Human Genome Project, which sequenced 3 billion bases of well-mapped DNA, here no one knows quite what to expect.
Science story on haplotype map