PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects

IF 10.1 1区生物学 Q1 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Genome Biology Pub Date : 2025-05-06 DOI:10.1186/s13059-025-03581-y

Mustafa Tekpinar, Laurent David, Thomas Henry, Alessandra Carbone

引用次数: 0

Abstract

Predicting the functional impact of point mutations is a critical challenge in genomics. PRESCOTT reconstructs complete mutational landscapes, identifies mutation-sensitive regions, and categorizes missense variants as benign, pathogenic, or variants of uncertain significance. Leveraging protein sequences, structural models, and population-specific allele frequencies, PRESCOTT surpasses existing methods in classifying ClinVar variants, the ACMG dataset, and over 1800 proteins from the Human Protein Dataset. Its online server facilitates mutation effect predictions for any protein and variant, and includes a database of over 19,000 human proteins, ready for population-specific analyses. Open access to residue-specific scores offers transparency and valuable insights for genomic medicine.

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普雷斯科特：人口意识、上位性和结构模型准确地预测了误义效应

预测点突变的功能影响是基因组学的一个关键挑战。PRESCOTT重建完整的突变景观，识别突变敏感区域，并将错义变异分类为良性、致病性或不确定意义的变异。利用蛋白质序列、结构模型和群体特异性等位基因频率，PRESCOTT在分类ClinVar变体、ACMG数据集和来自人类蛋白质数据集的1800多种蛋白质方面超越了现有的方法。它的在线服务器有助于预测任何蛋白质和变异的突变效应，并包括一个超过19,000种人类蛋白质的数据库，为特定人群的分析做好准备。开放获取残基特异性评分为基因组医学提供了透明度和有价值的见解。

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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来源期刊

Genome Biology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

21.00

自引率

3.30%

发文量

241

审稿时长

2 months

期刊介绍： Genome Biology stands as a premier platform for exceptional research across all domains of biology and biomedicine, explored through a genomic and post-genomic lens. With an impressive impact factor of 12.3 (2022),* the journal secures its position as the 3rd-ranked research journal in the Genetics and Heredity category and the 2nd-ranked research journal in the Biotechnology and Applied Microbiology category by Thomson Reuters. Notably, Genome Biology holds the distinction of being the highest-ranked open-access journal in this category. Our dedicated team of highly trained in-house Editors collaborates closely with our esteemed Editorial Board of international experts, ensuring the journal remains on the forefront of scientific advances and community standards. Regular engagement with researchers at conferences and institute visits underscores our commitment to staying abreast of the latest developments in the field.