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| | DeepMind再登Science：预测基因突变病，PK人类专家 | | | 量子位 ｜ 2023-09-21 | | | |
| 声明： 本消息或因风格和篇幅原因进行过编辑，但未经核实，也不代表我们的立场、观点或建议。如有侵权，联系秒删。[ 使用条款 ] |
scroll 0 1 基因突变会如何影响人类健康，很大程度上还是个未解之谜。
不过现在，人类可以借AI之力来研究这件事儿了：谷歌DeepMind在AlphaFold的基础上，训练出了专门预测人类基因组中错义突变致病性的AlphaMissense。
论文今天登上Science。
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“错义突变”是DNA序列的一种非同义替换。简单来说，就是DNA原本的字母（碱基对）被替换掉了。
这就意味着，对应生成的蛋白质里的氨基酸也会发生异化，这可能会让蛋白质失去原本的功能，导致疾病的产生。
AlphaMissense出山第一步，就是对全部7100万种可能的错义突变进行了分类。
结果是，这个AI成功将这些变异中的89%，分类为“可能致病”和“可能良性”。相比之下，人类专家目前的成绩是0.1%。
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用AI预测基因突变致病性
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