Identifying disease related mutations with Condel 2.0
Three years ago, Abel developed and published in the American Journal of Human Genetics an approach to combine the results of several tools aimed at identifying disease-related [...]
Condel for prioritization of variants involved in hereditary diseases and transFIC for cancer
We have worked during the last years on assessing the functional impact of non-synonymous variants (nsSNVs). As a result, we have published two new approaches Condel and [...]
Modifications in condel server
Several weeks ago we realized we were having problems retrieving the functional impact scores from the MutationAssessor webservice into our condel web server. We immediately corrected the [...]
BIG12 – Bioinformatics for Integrative Genomics course in Oeiras
This year our lab will participate again in the Gulbenkian Training Program in Bioinformatics (GTPB). Abel and Michael will give a 3 days course on Bioinformatics [...]
Bioinformatics for Integrative Genomics course
We are pleased to announce that we will be giving another practical course on bioinformatics for Integrative Genomics this year. It will take place from November 7-9, [...]
Condel in the world of web services
We have found two major drawbacks to computational approaches that assess the outcome of non-synonymous SNVs. The first is that there are now too many of them, [...]
Browsing ICGC data in IntOGen
When we created IntOGen we had the motivation to convert it into a discovery tool for cancer researchers and a resource that integrates multidimensional OncoGenomics Data. We [...]
BG is giving a course on Bioinformatics for Integrative Genomics
On 21-22 June our group is organizing a course open to all reserachers who share our interest on Genomics. It will be similar to the one we [...]
Condel goes Ensembl!
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 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 [...]
