Machine-Learning Models Trained on Genomic Summary Statistics Assess Extinction Risk and Recovery Potential of Bottlenecked Populations

IF 3.2 2区 生物学 Q1 EVOLUTIONARY BIOLOGY
Johanna C. Winder, Jack N. Marsters, Thomas Birley, Jasmyn Gooding, Taoyang Wu, Jim J. Groombridge, Hernán E. Morales, Cock van Oosterhout
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引用次数: 0

Abstract

Forecasting extinction risk from genomic data is challenging because of interactions among environment, demography, and genomic erosion. Here, we use known outcomes from forward simulations as a proof-of-concept study to test whether machine-learning (ML) models can discriminate relative extinction risk and recovery potential from genomic summary statistics, and identify the most informative predictors. Using individual-based, forward-in-time simulations, we generated genomic and fitness data for 11,200 populations across 112 demographic parameter combinations (ancestral population size: 100–10,000, bottleneck size: 4–50, fecundity: 8–64). We evaluated populations at three time points relative to bottleneck onset: 100 years before, 10 years before and at onset. We then assessed their subsequent fate up to 200 years after the end of the bottleneck, classifying populations as extinct or recovered. From 10 sampled individuals per population, we derived 738 predictors spanning diversity, heterozygosity, genetic/realised/masked load, and ROH-based inbreeding (FROH). Unsupervised analyses primarily captured historical demography and did not separate outcomes. In contrast, supervised models achieved high performance at bottleneck onset, correctly predicting population fate (i.e., future extinction or recovery) from genomics alone with ≈86%–87% accuracy. However, extinction was harder to predict correctly than recovery because simulated extinctions were rarer. Bottleneck size and fecundity provided strong baseline predictability, with genomics adding modest but complementary information. The upper-quantile ROH/FROH summaries were consistently more informative than mean diversity or mean load. A complementary single-genome analysis showed that reference-genome-style summaries retain useful signal when demographic information is sparse. Together, these results highlight the promise of ML-informed extinction-risk assessment to translate genomic indicators into more actionable, early-warning signals for biodiversity conservation.

基于基因组汇总统计训练的机器学习模型评估瓶颈种群的灭绝风险和恢复潜力。
由于环境、人口和基因组侵蚀的相互作用,从基因组数据预测灭绝风险是具有挑战性的。在这里,我们使用前向模拟的已知结果作为概念验证研究,以测试机器学习(ML)模型是否可以从基因组汇总统计中区分相对灭绝风险和恢复潜力,并确定最具信息量的预测因子。使用基于个体的前向实时模拟,我们生成了112个人口统计学参数组合(祖先种群规模:100-10,000,瓶颈规模:4-50,繁育力:8-64)中的11,200个种群的基因组和适应度数据。我们在相对于瓶颈发生的三个时间点对种群进行了评估:100年前、10年前和发生前。然后,我们评估了它们在瓶颈期结束后长达200年的命运,将种群划分为灭绝或恢复。从每个群体的10个样本个体中,我们获得了738个预测因子,涵盖多样性、杂合度、遗传/实现/隐藏负荷和基于roh的近交(FROH)。无监督分析主要捕获历史人口统计数据,没有分离结果。相比之下,监督模型在瓶颈开始时表现优异,仅从基因组学就能正确预测种群命运(即未来灭绝或恢复),准确率约为86%-87%。然而,灭绝比恢复更难准确预测,因为模拟灭绝很少。瓶颈大小和繁殖力提供了强有力的基线可预测性,基因组学提供了适度但互补的信息。上分位数的ROH/FROH总结始终比平均多样性或平均负荷提供更多信息。一项互补的单基因组分析表明,当人口统计信息稀疏时,参考基因组风格的摘要保留了有用的信号。总之,这些结果突出了基于机器学习的灭绝风险评估的前景,将基因组指标转化为更可行的生物多样性保护预警信号。
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来源期刊
Evolutionary Applications
Evolutionary Applications 生物-进化生物学
CiteScore
8.50
自引率
7.30%
发文量
175
审稿时长
6 months
期刊介绍: Evolutionary Applications is a fully peer reviewed open access journal. It publishes papers that utilize concepts from evolutionary biology to address biological questions of health, social and economic relevance. Papers are expected to employ evolutionary concepts or methods to make contributions to areas such as (but not limited to): medicine, agriculture, forestry, exploitation and management (fisheries and wildlife), aquaculture, conservation biology, environmental sciences (including climate change and invasion biology), microbiology, and toxicology. All taxonomic groups are covered from microbes, fungi, plants and animals. In order to better serve the community, we also now strongly encourage submissions of papers making use of modern molecular and genetic methods (population and functional genomics, transcriptomics, proteomics, epigenetics, quantitative genetics, association and linkage mapping) to address important questions in any of these disciplines and in an applied evolutionary framework. Theoretical, empirical, synthesis or perspective papers are welcome.
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