User profiles for Jordi Deu-Pons
Jordi Deu-PonsInstitute for Research in Biomedicine Verified email at jordeu.net Cited by 6923 |
A compendium of mutational cancer driver genes
A fundamental goal in cancer research is to understand the mechanisms of cell transformation.
This is key to developing more efficient cancer detection methods and therapeutic …
This is key to developing more efficient cancer detection methods and therapeutic …
DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants
…, A Gutiérrez-Sacristán, J Deu-Pons… - Nucleic acids …, 2016 - academic.oup.com
The information about the genetic basis of human diseases lies at the heart of precision
medicine and drug discovery. However, to realize its full potential to support these goals, several …
medicine and drug discovery. However, to realize its full potential to support these goals, several …
DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes
DisGeNET is a comprehensive discovery platform designed to address a variety of questions
concerning the genetic underpinning of human diseases. DisGeNET contains over 380 …
concerning the genetic underpinning of human diseases. DisGeNET contains over 380 …
[HTML][HTML] Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations
While tumor genome sequencing has become widely available in clinical and research
settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we …
settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we …
[HTML][HTML] IntOGen-mutations identifies cancer drivers across tumor types
A Gonzalez-Perez, C Perez-Llamas, J Deu-Pons… - Nature …, 2013 - nature.com
The IntOGen-mutations platform ( http://www.intogen.org/mutations/ ) summarizes somatic
mutations, genes and pathways involved in tumorigenesis. It identifies and visualizes cancer …
mutations, genes and pathways involved in tumorigenesis. It identifies and visualizes cancer …
[HTML][HTML] Comprehensive identification of mutational cancer driver genes across 12 tumor types
…, A Gonzalez-Perez, C Perez-Llamas, J Deu-Pons… - Scientific reports, 2013 - nature.com
With the ability to fully sequence tumor genomes/exomes, the quest for cancer driver genes
can now be undertaken in an unbiased manner. However, obtaining a complete catalog of …
can now be undertaken in an unbiased manner. However, obtaining a complete catalog of …
[PDF][PDF] In silico prescription of anticancer drugs to cohorts of 28 tumor types reveals targeting opportunities
Large efforts dedicated to detect somatic alterations across tumor genomes/exomes are
expected to produce significant improvements in precision cancer medicine. However, high inter-…
expected to produce significant improvements in precision cancer medicine. However, high inter-…
Nucleotide excision repair is impaired by binding of transcription factors to DNA
R Sabarinathan, L Mularoni, J Deu-Pons… - Nature, 2016 - nature.com
Somatic mutations are the driving force of cancer genome evolution 1 . The rate of somatic
mutations appears to be greatly variable across the genome due to variations in chromatin …
mutations appears to be greatly variable across the genome due to variations in chromatin …
[HTML][HTML] OncodriveFML: a general framework to identify coding and non-coding regions with cancer driver mutations
L Mularoni, R Sabarinathan, J Deu-Pons… - Genome biology, 2016 - Springer
Distinguishing the driver mutations from somatic mutations in a tumor genome is one of the
major challenges of cancer research. This challenge is more acute and far from solved for …
major challenges of cancer research. This challenge is more acute and far from solved for …
[HTML][HTML] A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer
Precision oncology relies on accurate discovery and interpretation of genomic variants,
enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent …
enabling individualized diagnosis, prognosis and therapy selection. We found that six prominent …