半监督检测自然选择与积极未标记的学习
bioRxiv : the preprint server for biology
|September 2, 2025
概括
我们介绍了PULSe, 一种用于检测基因组区域的新机器学习方法. PULSe使用正无标记的学习来识别复杂的基因组数据中的选择性扫描,而不需要负样标签.
科学领域:
- 进化基因组学
- 机器学习
- 种群遗传学
背景情况:
- 在进化基因组学中,确定自然选择下的基因组区域至关重要.
- 目前的机器学习方法依赖于模拟数据和明确的标签,将其应用限制在具有混合进化力量的真实世界基因组上.
- 一个与其他的策略是复杂的, 努力模拟不同的进化背景.
研究的目的:
- 开发一个灵活的机器学习框架来检测基因组数据中的适应事件,特别是选择性扫描.
- 引入一种无标记的积极学习方法,避免需要明确的负面样本建模.
- 在由各种进化因素塑造的现实基因组景观中强有力的检测.
主要方法:
- 引入了PULSe,一种采用积极未标记学习进行选择性扫描检测的方法.
- 仅使用标记的选择性扫描示例和未标记的背景数据集进行训练的PULSe.
- 评估了PULSe在不同的人口,适应性和混情景中的表现,包括域名转移.
主要成果:
- PULSe 在各种基因组环境中表现出高性能和通用性.
- 该方法成功地在欧洲和孟加拉人的基因组中识别了以前已知的选择性扫描候选者.
- PULSe有效地处理复杂的基因组数据, 没有对背景组成的假设.
结论:
- PULSe为检测适应性基因组区域提供了一种强大而多用途的替代方案.
- 积极无标记的学习框架为现实的基因组分析提供了稳定性.
- PULSe有可能在各种基因组景观和进化场景中泛化.
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