Clik here to view.
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....
View ArticleClik here to view.
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) may be assessed employing both...
View ArticleClik here to view.
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, based on different principles –some using...
View ArticleClik here to view.
How to identify cancer drivers from tumor somatic mutations?
Cartoon representing genomic alterations in a tumor cell. Image from NCI. I have recently seen several presentations by groups that systematically explore alterations in cancer genomes that deliver the...
View ArticleClik here to view.
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 problem by...
View ArticleClik here to view.
How to prioritize cancer somatic mutations?
Projects that sequence the genomes of a cohort of tumor samples are faced with the challenge of deciding which somatic mutations are relevant to tumor development (drivers). The exome of an individual...
View ArticleClik here to view.
Alba is a PhD!
Last Monday, April 29th, Alba defended her PhD thesis at the PRBB. It was the highest point of a story that started some five years ago, when she joined our group to do her Master’s thesis. From...
View ArticleClik here to view.
IntOGen-mutations: the analysis of cancer genomes published in Nature Methods
Yesterday night, our IntOGen-mutations paper went online in Nature Methods. A couple of years of hard work of our team lies now condensed into a couple of pages. Let us use this blog to unfold the...
View ArticleClik here to view.
Chromatin maintenance and cancer
It is now well established that cancer is a collection of mostly genetic diseases. They progress through the accumulation of alterations, such as point mutations in genes that affect mechanisms, often...
View ArticleClik here to view.
How to identify oncogenic driver mutations: a review of bioinformatics...
Recently, at least three articles have reviewed the ensemble of bioinformatics tools developed in the past few years to understand the alterations that plague the genome and transcriptome of tumor...
View Article
