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DeepMind releases a genome map covering all human gene mutations

2026-09-08 08:00 Science 🔥 40.2 heat score techmeme #4
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Google DeepMind released a new genome “map” on September 8, 2026. Using the AlphaGenome AI model, it predicted the effects of approximately 9 billion single nucleotide mutations in the human genome and included over 100 million short insertion or deletion variations. This map aims to assist in the diagnosis of rare diseases, reveal hidden mechanisms of common diseases, and understand DNA regulatory rules. The total amount of data involved is 1 petabyte. The AlphaGenome Variant Impact (AVI) scoring metric developed by the team is used to quantify the biological impact of variants. Currently, this tool is available for non-commercial use free of charge, and it has attracted approximately 9,000 researchers who have used it through the API. However, some biologists face difficulties in using it due to the need to write code.

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N Nature News en 2026-09-08 08:00

DeepMind’s new genome ‘atlas’ charts effects of all 9 billion human gene mutations

Google DeepMind 发布新基因组“图谱”,利用 AlphaGenome AI 模型预测人类基因组中所有 90 亿种单核苷酸突变的影响。该图谱还收录了超过 1 亿个短插入或缺失变异,旨在辅助诊断罕见病、揭示常见疾病隐藏机制及 DNA 调控规则。图谱数据总量达 1 拍字节,由 DeepMind 团队开发用于量化变体生物学影响的 AlphaGenome Variant Impact (AVI) 评分指标提供。目前该工具免费供非商业用途使用,虽已吸引约 9000 名研究人员通过 API 调用,但部分生物学家仍因需编写代码而面临门槛。