April 15, 2011 (Vol. 31, No. 8)

URL:
http://www.hgvs.org

Rating:
Strong Points: Wonderful compilation of databases
Weak Points: Nothing significant

Summary:

Despite the fact that sequencing the complete “model” human genome was a great victory for science, one need only look at the diversity of your fellow commuters in the morning to appreciate the fact that there is still a lot of work to do to characterize the subtle genetic polymorphisms among the population. The Human Genome Variation Society exists to foster this characterization through promoting the collection and free distribution of information related to genomic variation. Their well- designed website provides information about membership to the society, but it also provides an immense collection of links to databases related to genomic variation. These include locus-specific mutations, disease-centered mutations, single nucleotide polymorphisms (SNPs), and mutations among ethnic groups, among others. There is even an entire category for “other” databases—those for which, in the words of the website, “your round holes don’t fit our square pegs.”

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