美国博德研究所Sumaiya Iqbal小组开发出一个将遗传筛选结果与蛋白质序列和结构连接的资源和发现工具。这一研究成果于2024年9月18日在线发表在国际学术期刊《自然—方法学》上。

研究人员推出了Genomics 2 Proteins门户（https://g2p.broadinstitute.org/）：一个覆盖人类蛋白质组的资源，将20076998个遗传变异映射到42413条蛋白质序列和77923个结构上，提供了一套全面的结构和功能特征。

此外，Genomics 2 Proteins门户允许用户互动地上传蛋白质残基注释（例如，变异和评分）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。该门户作为一个易于使用的发现工具，可帮助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。

据介绍，最近基于人工智能的方法在结构生物学领域取得了革命性进展。同时，高通量测序和功能基因组学生成了前所未有的遗传变异。然而，仍需高效的工具和资源来将不同类型的数据“映射”到蛋白质结构上，以更好地理解变异如何导致疾病，从而设计治疗方案。

附：英文原文

Title: Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures

Author: Kwon, Seulki, Safer, Jordan, Nguyen, Duyen T., Hoksza, David, May, Patrick, Arbesfeld, Jeremy A., Rubin, Alan F., Campbell, Arthur J., Burgin, Alex, Iqbal, Sumaiya

Issue&Volume: 2024-09-18

Abstract: 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.

DOI: 10.1038/s41592-024-02409-0

Source: https://www.nature.com/articles/s41592-024-02409-0