2NPLGBM: a genomic model that merges the strengths of classical and machine learning methods in genomic prediction.

IF 5.2 2区 生物学 Q1 BIOCHEMICAL RESEARCH METHODS
Bright Enogieru Osatohanmwen, Indalécio Cunha Vieira, Ahmad Reza Sharifi, Timothy M Beissinger
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Abstract

Background: Genomic prediction (GP) is a central component of modern plant breeding, enabling the early selection of superior genotypes based on genomic marker data. Classical GP models, such as genomic best linear unbiased prediction (GBLUP), operate within the data modeling culture and typically assume additive genetic effects, with extensions required to model non-additive effects such as dominance and epistasis. In contrast, machine learning (ML) models from the algorithmic modeling culture can flexibly model complex, non-additive genetic relationship but often lack direct grounding in quantitative genetic theory and interpretability. To bridge these gaps, we propose 2NPLGBM, a hybrid genomic prediction approach that integrates quantitative genetics with ML. This method introduces a two-matrix (2NP) genotype representation by concatenating additive (Z) and dominance (W) matrices, which are then used as input to a Light Gradient Boosting Machine (LGBM), enabling the simultaneous modeling of additive, dominance, and higher-order genetic interactions (AA, AD, DD).

Results: The 2NPLGBM model was evaluated using six years of test-cross hybrid maize trial data across four agronomic traits (grain yield, plant height, days to silking, and days to anthesis) under five cross-validation schemes simulating temporal: Leave-One-Year-Out (LOYO), Rolling Window (RW), and genetic generalization: Five-Fold, and tester-based schemes (Tester CV0 and Tester CV00). Compared to GBLUP, 2NPLGBM achieved an average of 5% improvement in predictive accuracy under temporal validations and over 15% gains under tester-based schemes, particularly for flowering traits (days to silking and days to anthesis). Performance was generally comparable to LGBM, with both ML models outperforming GBLUP for most traits. Under Tester CV0, 2NPLGBM showed its strongest relative advantage over LGBM for flowering traits, suggesting improved capture of interaction-related genetic signals, whereas LGBM generally performed best for plant height and grain yield. In five-fold CV and Tester CV00, GBLUP remained competitive for some traits, while both machine learning models showed reduced gains, with LGBM slightly outperforming 2NPLGBM. In addition, 2NPLGBM generally improved selection efficiency over GBLUP and, in most cases, LGBM, indicating enhanced ability to capture complex genetic signals relevant for hybrid ranking, particularly for flowering traits, whereas LGBM tended to achieve the highest selection efficiency for plant height and grain yield. Feature interpretation using Shapley Additive exPlanations (SHAP) confirmed that non-additive interactions contributed substantially to prediction accuracy for highly heritable traits. It also revealed trait-specific architectures, additive effects dominated flowering traits, while dominance effects contributed more to plant height and yield. Classical variance component analysis supported these findings, indicating high dominance contributions of 17.3% for yield and 8.2% for plant height.

Conclusion: The 2NPLGBM model integrates quantitative genetic theory with machine-learning, bridging classical statistical (data-model) and algorithmic modeling cultures. bridging classical statistical (data model) and algorithmic modeling cultures. By jointly modeling additive and non-additive effects it can improve predictive accuracy, interpretability, and selection efficiency in test-cross hybrids. Future work should explore multi-trait and multi-environment extensions, integration of environmental covariates, and the inclusion of multi-omic data to further strengthen predictive power and interpretability.

2NPLGBM:一个基因组模型,融合了经典和机器学习方法在基因组预测中的优势。
背景:基因组预测(GP)是现代植物育种的核心组成部分,可以根据基因组标记数据早期选择优质基因型。经典GP模型,如基因组最佳线性无偏预测(GBLUP),在数据建模文化中运行,通常假设可加性遗传效应,需要扩展以模拟非可加性效应,如显性和上位性。相比之下,来自算法建模文化的机器学习(ML)模型可以灵活地建模复杂的非加性遗传关系,但往往缺乏定量遗传理论和可解释性的直接基础。为了弥补这些差距,我们提出了2NPLGBM,这是一种将定量遗传学与ML相结合的混合基因组预测方法。该方法通过连接加性(Z)和显性(W)矩阵引入双矩阵(2NP)基因型表示,然后将其用作光梯度增强机(LGBM)的输入,从而能够同时建模加性、显性和高阶遗传相互作用(AA、AD、DD)。结果:2NPLGBM模型利用杂交玉米6年试验数据,在5种交叉验证方案下进行评估,分别模拟时间:1年留置(LOYO)、滚动窗口(RW)、遗传推广:5倍和基于测试者的方案(Tester CV0和Tester CV00),涉及4个农艺性状(籽粒产量、株高、出丝日和开花日)。与GBLUP相比,2NPLGBM在时间验证下的预测准确性平均提高了5%,在基于测试者的方案下提高了15%以上,特别是在开花性状(出丝天数和开花天数)方面。性能通常与LGBM相当,两个ML模型在大多数特征上都优于GBLUP。在c0试验条件下,2NPLGBM在开花性状上比LGBM表现出最强的相对优势,这表明2NPLGBM能更好地捕获互作相关的遗传信号,而LGBM在株高和产量上表现最好。在五倍CV和Tester CV00中,GBLUP在某些特征上仍然具有竞争力,而两种机器学习模型的收益都有所下降,LGBM的表现略优于2NPLGBM。此外,2NPLGBM总体上优于GBLUP和LGBM,在大多数情况下优于LGBM,这表明2NPLGBM捕获与杂交排名相关的复杂遗传信号的能力增强,特别是在开花性状上,而LGBM往往在株高和籽粒产量上达到最高的选择效率。利用Shapley加性解释(SHAP)的特征解释证实,非加性相互作用对高遗传性状的预测精度有很大贡献。开花性状中,加性效应占主导地位,显性效应对株高和产量的影响更大。经典方差成分分析支持上述结果,表明产量和株高的显性贡献率分别为17.3%和8.2%。结论:2NPLGBM模型将定量遗传理论与机器学习相结合,架起了经典统计(数据模型)和算法建模文化的桥梁。连接经典统计(数据模型)和算法建模文化。通过对可加性和非可加性效应进行联合建模,可以提高试验杂交的预测精度、可解释性和选择效率。未来的工作应探索多特征和多环境的扩展,环境协变量的整合,多组数据的包含,以进一步增强预测能力和可解释性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Plant Methods
Plant Methods 生物-植物科学
CiteScore
9.20
自引率
3.90%
发文量
121
审稿时长
2 months
期刊介绍: Plant Methods is an open access, peer-reviewed, online journal for the plant research community that encompasses all aspects of technological innovation in the plant sciences. There is no doubt that we have entered an exciting new era in plant biology. The completion of the Arabidopsis genome sequence, and the rapid progress being made in other plant genomics projects are providing unparalleled opportunities for progress in all areas of plant science. Nevertheless, enormous challenges lie ahead if we are to understand the function of every gene in the genome, and how the individual parts work together to make the whole organism. Achieving these goals will require an unprecedented collaborative effort, combining high-throughput, system-wide technologies with more focused approaches that integrate traditional disciplines such as cell biology, biochemistry and molecular genetics. Technological innovation is probably the most important catalyst for progress in any scientific discipline. Plant Methods’ goal is to stimulate the development and adoption of new and improved techniques and research tools and, where appropriate, to promote consistency of methodologies for better integration of data from different laboratories.
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