© 1999 by Oxford University Press
Journal of the National Cancer Institute, Vol. 91, No. 13, 1110,
July 7, 1999
© 1999 Oxford University Press
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Snipping "SNPs": A New Tool for Mining Gene Variations
Scientists often say they can never have too much information stored in gene databases to help them in their studies. Recently, a team of scientists at the National Cancer Institute in Bethesda, Maryland showed why this is the case.
Using a special computer software package designed to "mine" hidden gems of information stored in the databases, the NCI scientists reported that they discovered a total of 10,435 possible new variations in human genes. These gene variations, known as SNPs for single nucleotide polymorphisms, have captured the attention of many academic and industry scientists in recent years for their likely modifying effects on health, susceptibility to disease — including cancer — and drug metabolism. Scientists estimate that each person has about 1 million SNPs, which occur about once every 1,000 to 2,000 bases, or units, of DNA.
According to Kenneth Buetow, Ph.D., the leader of the NCI research team, the gene variations still must be validated. However, each of the candidate SNPs met statistical confidence levels of .99%, meaning there is a 1% chance or less or error in identifying them as SNPs.
"These variations represent the cleanest, most reliable of our data," said Buetow of his group's study, which involved an analysis of nearly 22,000 genes and required three specialized computer software programs to sort out the sequence.
The SNPs can be found at http://lpg.nci.nih.gov/GAI.
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