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Evo 2如何实现零样本变体效应预测?以BRCA1为例说明

2025-09-05 1.8 K

Evo 2的零样本变体效应预测功能无需额外训练即可评估基因变体影响,BRCA1基因预测流程如下:

预测步骤:

  1. Prepare data:将参考序列和变体序列存入列表
    ref_seqs = ["ATCG..."] # 参考序列
    var_seqs = ["ATGG..."] # 变体序列
  2. Operational forecasts::ref_scores = model.score_sequences(ref_seqs)
    var_scores = model.score_sequences(var_seqs)
    print(f"Reference score: {ref_scores}, Variant score: {var_scores}")

结果解释:

输出结果包含参考序列和变体序列的似然值。通过比较两者的差异:

  • 分数降低表明该变体可能有害
  • 轻微变化表明中性变体
  • 分数提高则可能是功能增益变异

此功能特别适用于癌症相关基因(如BRCA1)的致病性预测,为精准医学提供参考依据。

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