Yes, the Ensembl-variation 62 is out, and Condel has been included in its API. From this version on, the effects of all non-synonymous Single Nucleotide Variants (SNVs) may be assessed employing both SIFT and Polyphen-2, and their scores integrated using Condel. Read the rest of this entry »
The other day I downloaded the cancer-affected Gene Ontology (GO) terms from IntOGen for up- and down-regulation via it’s Biomart interface for a few tissues. Since was only interested in the GO Cell Compartment terms, so I directly added a filter file containing all the GO CC Terms as a filter for the Biomart export.
So then… what do you do when you have a list of GO terms? Read the rest of this entry »
Our article on a Consensus deleteriousness score of missense Single Nucleotide Variants was published yesterday online and will be included in the April issue of the American Journal of Human Genetics. We want to invite you to read it, and give you a glimpse at how we got the idea. Read the rest of this entry »