Technology, Mathematics--and Marketplace--Drive SNP Discovery

Technological developments helped make single nucleotide polymorphism (SNP) databases possible. But further innovations will be necessary to make those records of thousands of genetic variations useful. Francis Collins, director of the National Human Genome Research Institute, remembers a swell of developments that crested in 1996. "The technology for finding SNPs seemed to be moving along pretty well," he recalls. "You could imagine getting a pretty good set." Enabling technologies included

Paul Smaglik
Jul 18, 1999

Technological developments helped make single nucleotide polymorphism (SNP) databases possible. But further innovations will be necessary to make those records of thousands of genetic variations useful.

Francis Collins, director of the National Human Genome Research Institute, remembers a swell of developments that crested in 1996. "The technology for finding SNPs seemed to be moving along pretty well," he recalls. "You could imagine getting a pretty good set." Enabling technologies included gene chips as a way of both discovering and scoring SNPs, as well as other methods of finding single nucleotide changes. Those methods included applying denaturing high pressure liquid chromatography (HPLC) and adapting other methods, such as analyzing single stranded confirmational polymorphisms (SSPC), for high throughput. "All of those [technologies] were coming together at once," Collins notes.

Mathematical modeling studies, which also appeared in 1996, further demonstrated the potential utility of SNPs.1 Such studies showed that SNP analysis...