Center for the Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
PATTERN, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nat Methods. 2024 Oct;21(10):1947-1957. doi: 10.1038/s41592-024-02409-0. Epub 2024 Sep 18.
Recent advances in AI-based methods have revolutionized the field of structural biology. Concomitantly, high-throughput sequencing and functional genomics have generated genetic variants at an unprecedented scale. However, efficient tools and resources are needed to link disparate data types-to 'map' variants onto protein structures, to better understand how the variation causes disease, and thereby design therapeutics. Here we present the Genomics 2 Proteins portal ( https://g2p.broadinstitute.org/ ): a human proteome-wide resource that maps 20,076,998 genetic variants onto 42,413 protein sequences and 77,923 structures, with a comprehensive set of structural and functional features. Additionally, the Genomics 2 Proteins portal allows users to interactively upload protein residue-wise annotations (for example, variants and scores) as well as the protein structure beyond databases to establish the connection between genomics to proteins. The portal serves as an easy-to-use discovery tool for researchers and scientists to hypothesize the structure-function relationship between natural or synthetic variations and their molecular phenotypes.
基于人工智能的方法的最新进展彻底改变了结构生物学领域。与此同时，高通量测序和功能基因组学以前所未有的规模产生了遗传变异。然而，需要有效的工具和资源将不同的数据类型联系起来，将变体映射到蛋白质结构上，以更好地理解变异如何导致疾病，从而设计治疗方法。在这里，我们介绍基因组学 2 蛋白质门户 ( https://g2p.broadinstitute.org/ )：一个人类蛋白质组范围的资源，它将 20,076,998 个遗传变体映射到 42,413 个蛋白质序列和 77,923 个结构上，并具有全面的结构和功能特征。此外，基因组学 2 蛋白质门户允许用户交互式地上传蛋白质残基注释（例如变体和分数）以及数据库之外的蛋白质结构，以建立基因组学与蛋白质之间的联系。该门户作为一个易于使用的发现工具，供研究人员和科学家假设自然或合成变异与其分子表型之间的结构-功能关系。
