DeepMind 发布 AlphaGenome Atlas，绘制人类基因组所有可能 DNA 变异图谱
原标题：Deepmind's AlphaGenome Atlas maps every possible DNA change in the human genome
AI 摘要
Google DeepMind 发布了 AlphaGenome Atlas，这是一个包含人类基因组中约 90 亿种可能的单字母变异影响的预测数据集，规模达 1 PB，是 AlphaFold 数据库的 30 多倍。该图谱基于 2025 年推出的 AlphaGenome 模型，并提供了简化的变异影响评分（AVI），在非编码区变异致病性预测上优于现有工具。实际案例中，AVI 帮助诊断了一例严重癫痫患儿，并在回顾性研究中显著提高了致病变异的排名。该图谱通过网页门户、API 和 Google Antigravity 技能提供非商业用途，商业版本将随后推出。
正文节选
Deepmind's AlphaGenome Atlas maps every possible DNA change in the human genome Google Deepmind has predicted what each of the roughly nine billion possible single-letter changes in the human genome would likely do inside the body. The AlphaGenome Atlas aims to help researchers spot the few relevant variants among a flood of genetic ones. The human genome runs to about three billion DNA letters. Every person carries millions of tiny deviations from the reference sequence, usually a single swappe