What’s in dbSNP? MassGenomics illustrates it

One of the things we find as we do our workshops around the country is that a lot of people assume that dbSNP has just SNPs–meaning Single Nucleotide Polymorphisms = 1 nucleotide that is variant in a given spot. But in fact there’s more going on in dbSNP. This led to them changing their header this past year to indicate that:

We have also pointed out that at the UCSC Genome Browser they have indicated this for years by calling their dbSNP track “simple nucleotide polymorphisms” and some people are surprised to realize that:

So when I saw the link to this post at MassGenomics this morning via twitter (hat tip to @brent_p) I went to have a look.

The Current State of dbSNP

It’s quite a nice overview of the current breakdown of the variants in dbSNP in the 135 build. Go read. And have a look at that chart of the growth of dbSNP. Wowsa. And we’re just getting started, really….