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) [...]
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? Already if it is only 100 GO terms, it is quite hard to get an idea which are the affected compartments. To understand better you have to identify the more general terms that are affected. Here I explain quickly how I solved this problem and share it with you.
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 [...]