Genome Editing Research Center, Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, 34141, Republic of Korea.
Department of Bioinformatics, KRIBB School of Bioscience, University of Science and Technology (UST), Daejeon, 34141, Republic of Korea.
Sci Rep. 2020 Nov 12;10(1):19653. doi: 10.1038/s41598-020-76759-y.
The increased accessibility to genomic data in recent years has laid the foundation for studies to predict various phenotypes of organisms based on the genome. Genomic prediction collectively refers to these studies, and it estimates an individual's phenotypes mainly using single nucleotide polymorphism markers. Typically, the accuracy of these genomic prediction studies is highly dependent on the markers used; however, in practice, choosing optimal markers with high accuracy for the phenotype to be used is a challenging task. Therefore, we present a new tool called GMStool for selecting optimal marker sets and predicting quantitative phenotypes. The GMStool is based on a genome-wide association study (GWAS) and heuristically searches for optimal markers using statistical and machine-learning methods. The GMStool performs the genomic prediction using statistical and machine/deep-learning models and presents the best prediction model with the optimal marker-set. For the evaluation, the GMStool was tested on real datasets with four phenotypes. The prediction results showed higher performance than using the entire markers or the GWAS-top markers, which have been used frequently in prediction studies. Although the GMStool has several limitations, it is expected to contribute to various studies for predicting quantitative phenotypes. The GMStool written in R is available at www.github.com/JaeYoonKim72/GMStool .
近年来,基因组数据的可及性增加为基于基因组预测生物体各种表型的研究奠定了基础。基因组预测通常是指这些研究,它主要使用单核苷酸多态性标记来估计个体的表型。通常,这些基因组预测研究的准确性高度依赖于所使用的标记;然而,在实践中,选择用于特定表型的具有高精度的最佳标记是一项具有挑战性的任务。因此,我们提出了一种名为 GMStool 的新工具,用于选择最佳标记集和预测定量表型。GMStool 基于全基因组关联研究 (GWAS),并使用统计和机器学习方法启发式地搜索最佳标记。GMStool 使用统计和机器学习/深度学习模型进行基因组预测,并呈现具有最佳标记集的最佳预测模型。为了进行评估,我们在具有四个表型的真实数据集上测试了 GMStool。预测结果显示,其性能优于经常用于预测研究的整个标记或 GWAS 顶级标记。尽管 GMStool 存在一些局限性,但它有望为预测定量表型的各种研究做出贡献。用 R 编写的 GMStool 可在 www.github.com/JaeYoonKim72/GMStool 上获得。