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 making of Condel (CONsensus DELeteriousness Score)
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 »