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Dr. Bruce Weir, William Neal Reynolds Distinguished Professor of Statistics and Genetics and director of NC State’s Bioinformatics Research Center, is one of more than 60 scientists from around the world involved in the international effort to create a haplotype map of the human genome – a map that pinpoints genetic differences between people.
The researchers’ findings appear in the Oct. 27 issue of the journal Nature.
A haplotype is a short piece of a chromosome. Human DNA contains 23 chromosomes, and these chromosomes are almost identical from person to person. However, there are places along the genome – the genetic content within these chromosomes – where variations occur. Scientists refer to these positions along the genome as SNPs (single nucleotide polymorphisms) or “snips.”
The aim of the haplotype map, or “HapMap,” is to provide scientists and medical researchers with “addresses” along the map that will show them where these genetic variations occur.
“Most of our diseases have a genetic component,” Weir says. “We need to find out what these genes are, and to do that we first must discover where they are.”
As a statistician, Weir’s role in the HapMap project was to help make sense of the raw data. “Basically, we had all these numbers and letters in a giant computer file of data,” he says. “Our team needed to figure out how this data should best be organized in order to help other scientists and researchers use it, and then to do the organizing.
“This is really big science,” he says. “Sixty scientists from around the world working toward a common goal that will have a huge impact on mankind.”
Posted Oct. 28, 2005
