Journal
NUCLEIC ACIDS RESEARCH
Volume 43, Issue W1, Pages W270-W275Publisher
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkv349
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Funding
- Spanish Ministry of Economy and Competitiveness [BIO2011-27069]
- Conselleria d'Educacio of the Valencian Community [PROMETEOII/2014/025]
- Fundacio la Marato TV3 [151/C/2013]
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Modern sequencing technologies produce increasingly detailed data on genomic variation. However, conventional methods for relating either individual variants or mutated genes to phenotypes present known limitations given the complex, multigenic nature of many diseases or traits. Here we present PATHiVar, a web-based tool that integrates genomic variation data with gene expression tissue information. PATHiVar constitutes a new generation of genomic data analysis methods that allow studying variants found in next generation sequencing experiment in the context of signaling pathways. Simple Boolean models of pathways provide detailed descriptions of the impact of mutations in cell functionality so as, recurrences in functionality failures can easily be related to diseases, even if they are produced by mutations in different genes. Patterns of changes in signal transmission circuits, often unpredictable from individual genes mutated, correspond to patterns of affected functionalities that can be related to complex traits such as disease progression, drug response, etc. PATHiVar is available at: http://pathivar.babelomics.org.
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