Google DeepMind Releases AlphaGenome Atlas

Google DeepMind 发布 AlphaGenome Atlas

AlphaGenome Atlas: a high-resolution map of human DNA AlphaGenome Atlas：人类 DNA 的高分辨率图谱

AlphaGenome Atlas is the most comprehensive catalogue of how genetic mutations affect molecular biology. AlphaGenome Atlas 是关于基因突变如何影响分子生物学的最全面的目录。

The human genome is made of about 3 billion base pairs of DNA — but much of it remains a mystery. Scientists understand the 2% of the human genome that codes for proteins relatively well, but have only limited knowledge of the remaining 98%. Our AlphaGenome model has already shown how single changes in these non-coding DNA regions can disrupt molecular processes like protein production, but the bigger picture remained unclear. 人类基因组由约 30 亿个 DNA 碱基对组成，但其中大部分仍然是个谜。科学家们对人类基因组中编码蛋白质的 2% 部分了解相对透彻，但对剩余 98% 的部分知之甚少。我们的 AlphaGenome 模型已经展示了这些非编码 DNA 区域中的单一变化如何干扰蛋白质生产等分子过程，但全貌仍不清晰。

Today, we’re introducing AlphaGenome Atlas, a database that predicts the effects of every possible single nucleotide variant in the human genome. We used the AlphaGenome AI model to pre-calculate the regulatory impact of all 9 billion single-letter genetic changes, resulting in a massive, 1-petabyte dataset. Our new Atlas helps scientists rapidly query this vast information. 今天，我们推出了 AlphaGenome Atlas，这是一个可以预测人类基因组中每一种可能的单核苷酸变异影响的数据库。我们利用 AlphaGenome AI 模型预先计算了所有 90 亿个单字母基因变化的调控影响，生成了一个庞大的 1PB 数据集。我们新的图谱旨在帮助科学家快速查询这些海量信息。

To help researchers rapidly navigate this, the Atlas introduces the AlphaGenome Variant Impact (AVI) score. This single, easy-to-use score combines predictions for both coding and non-coding regions, allowing researchers to quickly prioritize the most promising avenues for research without sifting through thousands of data points. 为了帮助研究人员快速浏览这些数据，该图谱引入了 AlphaGenome 变异影响（AVI）评分。这一简单易用的评分结合了编码区和非编码区的预测结果，使研究人员无需筛选数千个数据点，即可快速确定最有研究前景的方向。

Empowering researchers to solve biological mysteries 赋能研究人员破解生物学奥秘

AlphaGenome Atlas is already acting as a powerful augmentation partner for the scientific community, accelerating research in areas like: AlphaGenome Atlas 已经成为科学界强大的辅助伙伴，加速了以下领域的研究：

• Rare genomic variations: At the Broad Institute, Laura Covill and her team used the AVI score to prioritize variants for unsolved rare disease research. The tool highlighted a critical variant in the DNM1 gene, predicting that it created an incorrect splice site. This provided crucial supporting evidence to successfully solve the case. 罕见基因组变异： 在博德研究所（Broad Institute），Laura Covill 及其团队利用 AVI 评分对未解罕见疾病研究中的变异进行了优先级排序。该工具突显了 DNM1 基因中的一个关键变异，并预测其导致了错误的剪接位点。这为成功破解该病例提供了关键的佐证。

• Complex traits: Identifying rare, non-coding variants linked to complex traits is difficult due to statistical noise. Dr. Gareth Hawkes applied AlphaGenome Atlas to data from 54,000+ UK Biobank participants. By grouping variants based on predicted molecular effects, he uncovered 22% more non-coding genetic associations. Focusing on the top 1% of impactful variants, he identified 19 genetic regions linked to body mass index (BMI), directing the next stage of targeted research. 复杂性状： 由于统计噪声的存在，识别与复杂性状相关的罕见非编码变异非常困难。Gareth Hawkes 博士将 AlphaGenome Atlas 应用于来自英国生物样本库（UK Biobank）的 54,000 多名参与者的数据。通过根据预测的分子效应将变异分组，他发现了比以往多 22% 的非编码遗传关联。通过聚焦于影响最大的前 1% 变异，他确定了 19 个与身体质量指数（BMI）相关的遗传区域，为下一阶段的靶向研究指明了方向。

Opening access to researchers and biologists worldwide 向全球研究人员和生物学家开放访问

AlphaGenome Atlas is available today through an intuitive website portal that requires zero coding skills, democratizing access for clinical researchers and biologists worldwide. This is part of our ongoing commitment to accelerate genomic discovery and science, for everyone. AlphaGenome Atlas 即日起通过一个直观的网站门户开放，无需任何编程技能，从而使全球的临床研究人员和生物学家都能平等地获取这些资源。这是我们持续致力于加速基因组发现和科学进步，造福全人类承诺的一部分。

AlphaGenome Atlas provides grounded genomic insights that will accelerate the pace of biological discovery. AlphaGenome Atlas 提供了扎实的基因组洞察，将加速生物学发现的步伐。