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WAVe: web analysis of the variome.

机译：WAVe：对变种进行网络分析。

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摘要

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.
机译：DNA序列变异是常见人类特征和罕见的单基因疾病的基础。了解变异体，即个体基因组中的变异体，对于实现个性化医学的最终目标至关重要。近年来，这个关键的研究领域得到了飞速发展，这主要是由于基因分型技术的普及和发展。尽管人类基因组变异学会和人类Variome工程或欧洲GEN2PHEN工程等项目正在推动这些活动，但变异基因组数据集成系统远未广泛用于研究社区工作流程中。正在进行的大多数研究都集中在改进特定于基因座的数据库上。尽管LSDB的质量和手动管理为该领域增添了真正的价值，但它们通常是狭窄，异构且独立的系统。这阻碍了系统之间的数据协调和互操作性，扼杀了来自LSDB和相关数据源的数据聚合。引入了一个名为Variome的Web分析的新平台WAVe。它可以通过遗传变异数据集的整合以及相关信息的丰富化，直接和程序化地访问多个基因座特定的数据库。可通过http://bioinformatics.ua.pt/WAVe访问WAVe的敏捷和创新Web界面。

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