User profiles for N. Lopez-Bigas

Nuria Lopez-Bigas

ICREA Research Professor at the Institute for Research in Biomedicine
Verified email at irbbarcelona.org
Cited by 37746

A compendium of mutational cancer driver genes

…, H Kranas, A Gonzalez-Perez, N Lopez-Bigas - Nature Reviews …, 2020 - nature.com
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 …

[HTML][HTML] The road ahead in genetics and genomics

…, A Meissner, HY Chang, N López-Bigas… - Nature Reviews …, 2020 - nature.com
… Núria López-Bigas. Cancer research is one of the fields that has probably benefited the most
from the technological and methodological advances of genomics. In the span of less than …

Non-coding recurrent mutations in chronic lymphocytic leukaemia

…, D Tamborero, MJ Terol, A Valencia, N López-Bigas… - Nature, 2015 - nature.com
Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations
determining the clinicobiological behaviour are not fully understood. Here we describe a …

Expansion of the BioCyc collection of pathway/genome databases to 160 genomes

…, N Darzentas, V Kunin, N López-Bigas - Nucleic acids …, 2005 - academic.oup.com
The BioCyc database collection is a set of 160 pathway/genome databases (PGDBs) for most
eukaryotic and prokaryotic species whose genomes have been completely sequenced to …

[PDF][PDF] Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel

A González-Pérez, N López-Bigas - The American Journal of Human …, 2011 - cell.com
Several large ongoing initiatives that profit from next-generation sequencing technologies
have driven—and in coming years will continue to drive—the emergence of long catalogs of …

[PDF][PDF] Local determinants of the mutational landscape of the human genome

A Gonzalez-Perez, R Sabarinathan, N Lopez-Bigas - Cell, 2019 - cell.com
Large-scale chromatin features, such as replication time and accessibility influence the rate
of somatic and germline mutations at the megabase scale. This article reviews how local …

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

…, GM Cooper, PIW de Bakker, AD Kern, N Lopez-Bigas… - nature, 2007 - nature.com
We report the generation and analysis of functional data from multiple, diverse experiments
performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE …

[HTML][HTML] The repertoire of mutational signatures in human cancer

…, EN Bergstrom, SMA Islam, N Lopez-Bigas… - Nature, 2020 - nature.com
Somatic mutations in cancer genomes are caused by multiple mutational processes, each
of which generates a characteristic mutational signature 1 . Here, as part of the Pan-Cancer …

[PDF][PDF] A landscape of pharmacogenomic interactions in cancer

…, S Sayols, M Soleimani, D Tamborero, N Lopez-Bigas… - Cell, 2016 - cell.com
… cell lines analyzed through WES (n = 1,001), copy number (n = 996), gene expression …
Screened compounds included cytotoxics (n = 19) and targeted agents (n = 242) selected against …

[HTML][HTML] Are splicing mutations the most frequent cause of hereditary disease?

N López-Bigas, B Audit, C Ouzounis, G Parra, R Guigó - FEBS letters, 2005 - Elsevier
Disease-causing point mutations are assumed to act predominantly through subsequent
individual changes in the amino acid sequence that impair the normal function of proteins. …