EMBL-EBI, Wellcome Genome Campus, Hinxton CB10 1SD, Cambridgeshire, UK.
Kings College London, London WC2R 2LS, UK.
Nucleic Acids Res. 2024 Jul 5;52(W1):W140-W147. doi: 10.1093/nar/gkae413.
Genomic variation can impact normal biological function in complex ways and so understanding variant effects requires a broad range of data to be coherently assimilated. Whilst the volume of human variant data and relevant annotations has increased, the corresponding increase in the breadth of participating fields, standards and versioning mean that moving between genomic, coding, protein and structure positions is increasingly complex. In turn this makes investigating variants in diverse formats and assimilating annotations from different resources challenging. ProtVar addresses these issues to facilitate the contextualization and interpretation of human missense variation with unparalleled flexibility and ease of accessibility for use by the broadest range of researchers. By precalculating all possible variants in the human proteome it offers near instantaneous mapping between all relevant data types. It also combines data and analyses from a plethora of resources to bring together genomic, protein sequence and function annotations as well as structural insights and predictions to better understand the likely effect of missense variation in humans. It is offered as an intuitive web server https://www.ebi.ac.uk/protvar where data can be explored and downloaded, and can be accessed programmatically via an API.
基因组变异可能以复杂的方式影响正常的生物学功能，因此理解变异的影响需要将广泛的数据进行连贯地整合。尽管人类变异数据和相关注释的数量有所增加，但参与的领域、标准和版本的广度相应增加，这意味着在基因组、编码、蛋白质和结构位置之间进行转换变得越来越复杂。反过来，这使得研究不同格式的变体并整合来自不同资源的注释具有挑战性。ProtVar 解决了这些问题，为人类错义变异的上下文化和解释提供了无与伦比的灵活性和易用性，可供最广泛的研究人员使用。通过预先计算人类蛋白质组中的所有可能变体，它提供了所有相关数据类型之间近乎即时的映射。它还结合了来自众多资源的数据和分析，将基因组、蛋白质序列和功能注释以及结构见解和预测结合在一起，以更好地理解人类错义变异的可能影响。它作为直观的网络服务器提供，网址为 https://www.ebi.ac.uk/protvar，用户可以在其中探索和下载数据，并通过 API 以编程方式访问。
