表格式深度学习:应用于多任务全基因组预测的比较研究。

IF 2.9 3区 生物学 Q2 BIOCHEMICAL RESEARCH METHODS BMC Bioinformatics Pub Date : 2024-10-04 DOI:10.1186/s12859-024-05940-1
Yuhua Fan, Patrik Waldmann
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引用次数: 0

摘要

目的:更准确地预测表型性状可以提高动植物育种研究中基因组选择的成功率,并为人类提供更可靠的疾病风险预测。传统方法通常使用基于遗传标记和相关性状之间线性假设的回归模型。非线性模型被认为是基因组相互作用(即非加成效应)建模以及标记与表型之间其他微妙非线性模式建模的替代工具。深度学习已成为最先进的声音、图像和语言数据非线性预测方法。然而,基因组数据最好以表格形式表示。关于表格式数据深度学习的现有文献提出了各种新颖的架构,并报告了在各种数据集上取得的成功结果。表格式深度学习在全基因组预测(GWP)中的应用还很少见。在这项工作中,我们对近期用于表格式数据的深度学习架构的主要系列进行了综述,并将其应用于真实基因数据集上的全基因组预测的多性状回归和多类分类:本研究广泛综述了近期用于表格数据学习的深度学习架构:NODE、TabNet、TabR、TabTransformer、FT-Transformer、AutoInt、GANDALF、SAINT 和 LassoNet。这些架构适用于多性状 GWP。对各种表格深度学习方法进行了全面的基准测试,以确定最佳实践,并确定它们与传统方法相比的有效性:在多个基因组数据集(3 个用于多性状回归,2 个用于多类分类)上的广泛实验结果表明,LassoNet 表现突出,在最佳预测准确率和计算效率方面都超过了其他表格式深度学习模型和高效的基于树的 LightGBM 方法:通过对真实世界基因组数据集的一系列评估,该研究发现 LassoNet 表现突出,在预测准确率和计算效率方面都超过了 LightGBM 等决策树方法和其他表格式深度学习架构。此外,LassoNet 固有的变量选择特性为找到有助于表型表达的重要遗传标记提供了一种系统方法。
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Tabular deep learning: a comparative study applied to multi-task genome-wide prediction.

Purpose: More accurate prediction of phenotype traits can increase the success of genomic selection in both plant and animal breeding studies and provide more reliable disease risk prediction in humans. Traditional approaches typically use regression models based on linear assumptions between the genetic markers and the traits of interest. Non-linear models have been considered as an alternative tool for modeling genomic interactions (i.e. non-additive effects) and other subtle non-linear patterns between markers and phenotype. Deep learning has become a state-of-the-art non-linear prediction method for sound, image and language data. However, genomic data is better represented in a tabular format. The existing literature on deep learning for tabular data proposes a wide range of novel architectures and reports successful results on various datasets. Tabular deep learning applications in genome-wide prediction (GWP) are still rare. In this work, we perform an overview of the main families of recent deep learning architectures for tabular data and apply them to multi-trait regression and multi-class classification for GWP on real gene datasets.

Methods: The study involves an extensive overview of recent deep learning architectures for tabular data learning: NODE, TabNet, TabR, TabTransformer, FT-Transformer, AutoInt, GANDALF, SAINT and LassoNet. These architectures are applied to multi-trait GWP. Comprehensive benchmarks of various tabular deep learning methods are conducted to identify best practices and determine their effectiveness compared to traditional methods.

Results: Extensive experimental results on several genomic datasets (three for multi-trait regression and two for multi-class classification) highlight LassoNet as a standout performer, surpassing both other tabular deep learning models and the highly efficient tree based LightGBM method in terms of both best prediction accuracy and computing efficiency.

Conclusion: Through series of evaluations on real-world genomic datasets, the study identifies LassoNet as a standout performer, surpassing decision tree methods like LightGBM and other tabular deep learning architectures in terms of both predictive accuracy and computing efficiency. Moreover, the inherent variable selection property of LassoNet provides a systematic way to find important genetic markers that contribute to phenotype expression.

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来源期刊
BMC Bioinformatics
BMC Bioinformatics 生物-生化研究方法
CiteScore
5.70
自引率
3.30%
发文量
506
审稿时长
4.3 months
期刊介绍: BMC Bioinformatics is an open access, peer-reviewed journal that considers articles on all aspects of the development, testing and novel application of computational and statistical methods for the modeling and analysis of all kinds of biological data, as well as other areas of computational biology. BMC Bioinformatics is part of the BMC series which publishes subject-specific journals focused on the needs of individual research communities across all areas of biology and medicine. We offer an efficient, fair and friendly peer review service, and are committed to publishing all sound science, provided that there is some advance in knowledge presented by the work.
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