Tuesday, 24 January 2012

More than 50 millions unique variants in dbSNP

Today the MassGenomics blog reports an EXCELLENT survey of the current state of dbSNP written by Dan Koboldt.
In the image above it is impressive to notice the impact of the 1000 Genome Project on the identification of novel human sequence variations. We have to keep in mind that, despite its name, dbSNP collects also insertion-deletion variants (indels), multiple nucleotide polymorphisms (MNPs), as well as other classes of mixed polymorphisms (such as short tandem repeats). This is a must read if you are working in the personal genomics field, a sort of mini review with interesting stats about these class of human variations. Did you know for instance that in the Built 135 of dbSNP there are more than 40,000 variants predicted to cause premature termination (nonsense) or a shift in translation frame (frameshift) in the encoded protein?

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