英国生物银行全基因组测序联盟开发出490640名英国生物银行参与者的全基因组测序。2025年8月6日出版的《自然》发表了这项成果。

在此，该课题组报告了490640名英国生物银行参与者的全基因组测序，建立在之前的基因分型工作的基础上。这一进展加深了他们对遗传学如何与疾病生物学联系的理解，并进一步提高了这种开放抵抗对人类生物学和健康研究的价值。将该数据集与丰富的表型数据相结合，该课题组研究人员调查了内祖先和跨祖先基因组关联，并确定了新的遗传和临床见解。虽然与疾病特征的大多数关联主要在欧洲血统的个体中观察到，但在非洲和亚洲血统的个体中也发现了强烈或新的信号。

随着编码和UTR序列中结构变异和外显子变异的准确基因分型能力的提高，课题组研究人员加强并揭示了与全外显子组测序相关的新见解分析。该数据集代表了英国生物银行研究界可获得的大量全基因组测序数据，将促进他们对人类基因组的理解，促进发现更有效、更安全的诊断和治疗方法，并实现具有改善全球健康潜力的精准医学战略。

据悉，全基因组测序提供了一个公正和完整的人类基因组视图，使发现遗传变异不受其他基因分型技术的技术限制。

附：英文原文

Title: Whole-genome sequencing of 490,640 UK Biobank participants

Author: Bjarni V. Halldorsson, Slavé Petrovski, Shuwei Li or Adrian Cortes.

Issue&Volume: 2025-08-06

Abstract: Whole-genome sequencing provides an unbiased and complete view of the human genome and enables the discovery of genetic variation without the technical limitations of other genotyping technologies. Here we report on whole-genome sequencing of 490,640 UK Biobank participants, building on previous genotyping effort1. This advance deepens our understanding of how genetics associates with disease biology and further enhances the value of this open resource for the study of human biology and health. Coupling this dataset with rich phenotypic data, we surveyed within- and cross-ancestry genomic associations and identified novel genetic and clinical insights. Although most associations with disease traits were primarily observed in individuals of European ancestries, strong or novel signals were also identified in individuals of African and Asian ancestries. With the improved ability to accurately genotype structural variants and exonic variation in both coding and UTR sequences, we strengthened and revealed novel insights relative to whole-exome sequencing2,3 analyses. This dataset, representing a large collection of whole-genome sequencing data that is available to the UK Biobank research community, will enable advances of our understanding of the human genome, facilitate the discovery of diagnostics and therapeutics with higher efficacy and improved safety profile, and enable precision medicine strategies with the potential to improve global health.

DOI: 10.1038/s41586-025-09272-9

Source: https://www.nature.com/articles/s41586-025-09272-9