基因组学 2 蛋白质门户网站:将基因筛选结果与蛋白质序列和结构联系起来的资源和发现工具

IF 36.1 1区 生物学 Q1 BIOCHEMICAL RESEARCH METHODS Nature Methods Pub Date : 2024-09-18 DOI:10.1038/s41592-024-02409-0
Seulki Kwon, Jordan Safer, Duyen T. Nguyen, David Hoksza, Patrick May, Jeremy A. Arbesfeld, Alan F. Rubin, Arthur J. Campbell, Alex Burgin, Sumaiya Iqbal
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引用次数: 0

摘要

基于人工智能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基因变异。然而,我们需要高效的工具和资源来连接不同的数据类型--将变异 "映射 "到蛋白质结构上,从而更好地了解变异如何导致疾病,进而设计治疗方法。在此,我们介绍基因组学 2 蛋白质门户网站 (https://g2p.broadinstitute.org/):这是一个全人类蛋白质组资源,可将 20,076,998 个基因变异映射到 42,413 个蛋白质序列和 77,923 个结构上,并提供一套全面的结构和功能特征。此外,"基因组学 2 蛋白质 "门户网站还允许用户交互上传蛋白质残基注释(如变异和得分)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。该门户网站为研究人员和科学家提供了一个易于使用的发现工具,用于假设天然或合成变异与其分子表型之间的结构-功能关系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures
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. The Genomics 2 Proteins portal is an open-source tool for proteome-wide linking of human genetic variants to protein sequences and structures. The portal serves as a discovery tool to hypothesize the structure–function relationship between natural or synthetic variations and their molecular phenotypes.
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来源期刊
Nature Methods
Nature Methods 生物-生化研究方法
CiteScore
58.70
自引率
1.70%
发文量
326
审稿时长
1 months
期刊介绍: Nature Methods is a monthly journal that focuses on publishing innovative methods and substantial enhancements to fundamental life sciences research techniques. Geared towards a diverse, interdisciplinary readership of researchers in academia and industry engaged in laboratory work, the journal offers new tools for research and emphasizes the immediate practical significance of the featured work. It publishes primary research papers and reviews recent technical and methodological advancements, with a particular interest in primary methods papers relevant to the biological and biomedical sciences. This includes methods rooted in chemistry with practical applications for studying biological problems.
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