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WAVe: web analysis of the variome
Author(s) -
Lopes Pedro,
Dalgleish Raymond,
Oliveira José Luís
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21499
Subject(s) - biology , workflow , interoperability , genotyping , web application , data science , computational biology , genetics , world wide web , computer science , gene , database , genotype
DNA sequence variation is the underlying basis of common human traits and rarer single-gene disorders. Understanding the variome, the variants in an individual's genome, is essential to enable the ultimate goals of personalized medicine. This critical research field has grown dramatically in recent years, mostly due to the spread and development of genotyping technologies. Despite these activities being promoted by the Human Genome Variation Society and projects such as the Human Variome Project or the European GEN2PHEN Project, variome data-integration systems are far from being widely used in the research community workflow. Most of ongoing research is focused on improving locus-specific databases. Although the quality and manual curation of LSDBs adds true value to this domain, they are often narrow, heterogeneous, and independent systems. This hampers data harmonization and interoperability between systems, stifling the aggregation of data from LSDBs and related data sources. A new platform entitled Web Analysis of the Variome, WAVe, is introduced. It offers direct and programmatic access to multiple locus-specific databases, with the integration of genetic variation datasets and enrichment with relevant information. WAVe's agile and innovative Web interface is accessible at http://bioinformatics.ua.pt/WAVe.