计算生物学
结构基因组学
生物
基因组学
数据科学
蛋白质功能预测
人类基因组
蛋白质功能
遗传学
蛋白质结构
基因组
计算机科学
基因
生物化学
作者
Miguel Marrero,Jürgen Jänes,Delora Baptista,Pedro Beltrão
出处
期刊:Annual Review of Genomics and Human Genetics
[Annual Reviews]
日期:2024-04-15
标识
DOI:10.1146/annurev-genom-120622-020615
摘要
The last five years have seen impressive progress in deep learning models applied to protein research. Most notably, sequence-based structure predictions have seen transformative gains in the form of AlphaFold2 and related approaches. Millions of missense protein variants in the human population lack annotations, and these computational methods are a valuable means to prioritize variants for further analysis. Here, we review the recent progress in deep learning models applied to the prediction of protein structure and protein variants, with particular emphasis on their implications for human genetics and health. Improved prediction of protein structures facilitates annotations of the impact of variants on protein stability, protein–protein interaction interfaces, and small-molecule binding pockets. Moreover, it contributes to the study of host–pathogen interactions and the characterization of protein function. As genome sequencing in large cohorts becomes increasingly prevalent, we believe that better integration of state-of-the-art protein informatics technologies into human genetics research is of paramount importance.
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