Google DeepMind 发布 AlphaGenome Atlas 基因组变异数据库

人类基因组由大约30亿个DNA碱基对组成——但其中的大部分仍然是谜。科学家们对编码蛋白质的2%基因组片段理解得相对较好，但对剩下的98%只能有限了解。我们的AlphaGenome模型已经展示了这些非编码DNA区域的单一变化如何破坏分子过程，比如蛋白质的生成，但更宏观的整体尚不清楚。

今天，我们推出了AlphaGenome Atlas：http://alphagenome.google/atlas，这是一个预测人类基因组中每一个可能的单核苷酸变异效应的数据库。我们使用AlphaGenome AI模型预先计算了所有90亿个单个字母遗传变化的调控影响，生成了一个庞大的1PB（拍字节）数据集。我们新的Atlas帮助科学家快速查询这庞大的信息。

为了帮助研究人员快速浏览这些信息，Atlas引入了AlphaGenome变异影响（AVI）评分。这个简单易用的评分结合了编码区和非编码区的预测，使研究人员能够快速优先考虑最有前景的研究方向，无需筛选成千上万的数据点。

AlphaGenome Atlas已在科学界作为强有力的辅助伙伴，加速了以下领域的研究：

AlphaGenome Atlas今天可以通过直观的网站门户访问：http://alphagenome.google/atlas，无需编程技能，让全球临床研究人员和生物学家都能平等使用。这是我们持续加速基因组发现和科学进步承诺的一部分，为每个人服务。

AlphaGenome Atlas提供扎实的基因组洞察，将加速生物学发现的步伐。

在 Google DeepMind 博客上阅读更多内容：https://deepmind.google/blog/alphagenome-atlas-a-predictive-map-of-every-possible-dna-letter-change-in-the-human-genome/。

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.

Today, we're introducing AlphaGenome Atlas：http://alphagenome.google/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.

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.

AlphaGenome Atlas is already acting as a powerful augmentation partner for the scientific community, accelerating research in areas like:

AlphaGenome Atlas is available today through an intuitive website portal：http://alphagenome.google/atlas 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 provides grounded genomic insights that will accelerate the pace of biological discovery.

Read more on the Google DeepMind blog：https://deepmind.google/blog/alphagenome-atlas-a-predictive-map-of-every-possible-dna-letter-change-in-the-human-genome/.