中国农业科学 ›› 2023, Vol. 56 ›› Issue (18): 3682-3692.doi: 10.3864/j.issn.0578-1752.2023.18.015

• 畜牧·兽医 • 上一篇    下一篇

机器学习在动物基因组选择中的研究进展

李棉燕(), 王立贤(), 赵福平()   

  1. 中国农业科学院北京畜牧兽医研究所/农业部动物遗传育种与繁殖(家禽)重点实验室,北京 100193
  • 收稿日期:2022-09-17 接受日期:2023-06-28 出版日期:2023-09-16 发布日期:2023-09-21
  • 通信作者:
    赵福平,E-mail:
  • 联系方式: 李棉燕,Tel:15305169095;E-mail:mianyanli@outlook.com。王立贤,E-mail:iaswlx@263.net。李棉燕和王立贤为同等贡献作者。
  • 基金资助:
    国家自然科学基金面上项目(32172702); 国家重点研发计划(2021YFD130110203); 中国农业科学院科技创新工程(ASTIP-IAS02); 国家生猪产业技术体系(CARS-35)

Research Progress on Machine Learning for Genomic Selection in Animals

LI MianYan(), WANG LiXian(), ZHAO FuPing()   

  1. Key Laboratory of Animal Genetics Breeding and Reproduction (Poultry), Ministry of Agriculture, Institute of Animal Sciences, Chinese Academy of Agricultural Sciences, Beijing 100193
  • Received:2022-09-17 Accepted:2023-06-28 Published:2023-09-16 Online:2023-09-21

摘要:

基因组选择是指利用覆盖在全基因组范围内的分子标记信息来估计个体育种值。利用基因组信息能够避免因系谱错误带来的诸多问题,提高选择准确性并缩短育种世代间隔。根据统计模型的不同,基因组选择方法可大致分为基于BLUP(best linear unbiased prediction, BLUP)理论的方法、基于贝叶斯理论的方法和其他方法。目前应用较多的是GBLUP及其改进方法ssGBLUP。准确性是基因组选择模型最常用的评价指标,用来衡量真实值和估计值之间的相似程度。影响准确性的因素可以从模型中体现,大致分为可控因素和不可控因素。传统基因组选择方法促进了动物育种的快速发展,但这些方法目前都面临着多群体、多组学和计算等诸多挑战,不能捕获基因组高维数据间的非线性关系。作为人工智能的一个分支,机器学习是最贴近生物掌握自然语言处理能力的一种方式。机器学习从数据中提取特征并自动总结规律,利用该规律与新数据进行预测。对于基因组信息,机器学习无需进行分布假设,且所有的标记信息都能够被考虑进模型当中。相比于传统的基因组选择方法,机器学习更容易捕获基因型之间、表型与环境之间的复杂关系。因此,机器学习在动物基因组选择中具有一定的优势。根据训练期间接受的监督数量和监督类型,机器学习可分为监督学习、无监督学习、半监督学习和强化学习等。它们的主要区别为输入的数据是否带有标签。目前在动物基因组选择中应用的机器学习方法均为监督学习。监督学习可以处理分类和回归问题,需要向算法提供有标签的数据和所需的输出。近年来机器学习在动物基因组选择中的应用不断增多,特别是在奶牛和肉牛中发展较快。本文将机器学习算法划分为单个算法、集成算法和深度学习3类,综述其在动物基因组选择中的研究进展。单个算法中最常用的是KRR和SVR,两者都是通过核技巧来学习非线性函数,在原始空间中将数据映射到更高维的核空间。目前常用的核函数有线性核、余弦核、高斯核和多项式核等。深度学习又称为深度神经网络,由连接神经元的多个层组成。集成学习算法则是指将不同的学习器融合在一起进而得到一个较强的监督模型。近十年来,有关机器学习和深度学习的相关文献呈现了指数型的增长,在基因组选择方面的应用也在逐渐增多。尽管机器学习在某些方面存在明显的优势,但其在估计动物复杂性状基因组育种值时仍面临诸多挑战。部分模型的可解释性低,不利于数据、参数和特征的调整。数据的异质性、稀疏性和异常值也会造成机器学习的数据噪声。还有过拟合、大标记小样本和调参等问题。因此,在训练模型时需要谨慎处理每一个步骤。文章介绍了基因组选择传统方法及其面临的问题、机器学习的概念和分类,探讨了机器学习在动物基因组选择中的研究进展及目前存在的挑战,并给出了一个案例和一些应用的建议,以期为机器学习在动物基因组选择当中的应用提供一定参考。

关键词: 机器学习, 深度学习, 基因组选择, 动物育种

Abstract:

Genomic selection is defined as using the molecular marker information that covered the whole genome to estimate individual’s breeding values. Using genome information can avoid many problems caused by pedigree errors so as to improve selection accuracy and shorten breeding generation intervals. According to different statistical models, methods of estimated genomic breeding value (GEBV) can be divided into based on BLUP (best linear unbiased prediction) theory, based on Bayesian theory and others. At present, GBLUP and its improved method ssGBLUP have been widely employed. Accuracy is the most used evaluation metric for genomic selection models, which is to evaluate the similarity between the true value and the estimated value. The factors that affect the accuracy can be reflected from the model, which can be divided into controllable factors and uncontrollable factors. Traditional genomic selection methods have promoted the rapid development of animal breeding, but these methods are currently facing many challenges such as multi-population, multi-omics, and computing. What’s more, they cannot capture the nonlinear relationship between high-dimensional genomic data. As a branch of artificial intelligence, machine learning is very close to biological mastery of natural language processing. Machine learning extracts features from data and automatically summarizes the rules and use to make predictions for new data. For genomic information, machine learning does not require distribution assumptions, and all marker information can be considered in the model. Compared with traditional genomic selection methods, machine learning can more easily capture complex relationships between genotypes, phenotypes, and the environment. Therefore, machine learning has certain advantages in animal genomic selection. According to the amount and type of supervision received during training, machine learning can be classified into supervised learning, unsupervised learning, semi-supervised learning, and reinforcement learning. The main difference is whether the input data is labeled. The machine learning methods currently applied in animal genomic selection are all supervised learning. Supervised learning can handle both classification and regression problems, requiring the algorithm to be provided with labeled data and the desired output. In recent years, the application of machine learning in animal genomic selection has been increasing, especially in dairy and beef cattle. In this review, machine learning algorithms are divided into three categories: single algorithm, ensemble algorithm and deep learning, and their research progress in animal genomic selection were summarized. The most used single algorithms are KRR and SVR, both of which use kernel tricks to learn nonlinear functions and map data to higher-dimensional kernel spaces in the original space. Currently commonly used kernel functions are linear kernel, cosine kernel, Gaussian kernel, and polynomial kernel. Deep learning, also known as a deep neural network, consists of multiple layers of connected neurons. An ensemble learning algorithm refers to fusing different learners together to obtain a stronger supervised model. In the past decade, the related literature on machine learning and deep learning has shown exponential growth. And its application in genomic selection is also gradually increasing. Although machine learning has obvious advantages in some aspects, it still faces many challenges in estimating the genetic breeding value of complex traits in animals. The interpretability of some models is low, which is not conducive to the adjustment of data, parameters, and features. Data heterogeneity, sparsity, and outliers can also cause data noise for machine learning. There are also problems such as overfitting, large marks and small samples, and parameter adjustment. Therefore, each step needs to be handled carefully while training the model. This paper introduced the traditional methods of genomic selection and the problems they face, the concept and classification of machine learning. We discussed the research progress and current challenges of machine learning in animal genomic selection. A Case and some application suggestions were given to provide a certain reference for the application of machine learning in animal genomic selection.

Key words: machine learning, deep learning, genomic selection, animal breeding