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The explosion of genetic data availability in the last decade has opened up many new avenues for the application of genetics to the improvement of human health, particularly, the common and complex disorders, which previously largely defied researchers seeking to understand their etiology. However, the utilization of this data in healthcare and by the pharmaceutical industry is still in its infancy, with the current focus being almost solely on two forms of genetic variation single nucleotide polymorphisms (SNPs), involving the substitution of one base in DNA for another and copy number variations, involving the deletion and multiplication of regions > 1,000 base pairs (bp). However, there is currently a relative paucity of funding and general interest in a third form of variation called microsatellites and mini- satellites.
Engineering in Medicine and Biology Magazine, IEEE (Volume:27 , Issue: 2 )
Date of Publication: March-April 2008