Quantification of heritability is a fundamental aim in genetics, providing answer to the question of how much genetic variation influences variation in a particular trait of interest. The traditional computational approaches for assessing the heritability of a trait have been developed in the field of quantitative genetics. However, modern sequencing methods have provided us with whole genome sequences from large populations, often together with rich phenotypic data, and this increase in data scale has led to the development of several new machine learning based approaches to inferring heritability. In this review, we systematically summarize recent advances in machine learning which can be used to perform heritability inference. We focus on bacterial genomes where heritability plays a key role in understanding phenotypes such as drug resistance and virulence, which are particularly important due to the rising frequency of antimicrobial resistance. Specifically, we present applications of these newer machine learning methods to estimate the heritability of antibiotic resistance phenotypes in several pathogens. This study presents lessons and insights for future research when using machine learning methods in heritability inference.
翻译:遗传学的一个根本目标是对遗传学中的遗传性进行量化,回答关于遗传变异影响具体特征差异程度的问题。传统的计算方法已经在数量遗传学领域开发了评估遗传特征遗传性的传统计算方法。然而,现代测序方法为我们提供了大量人群的全部基因组序列,往往与丰富的胎儿数据一起,数据规模的扩大导致开发了几种基于机器的新学习方法来推断遗传性。在本次审查中,我们系统地总结了可用来进行遗传性推断的机器学习的最新进展。我们侧重于细菌基因组,在这些基因组中,遗传性在理解诸如药物抗药性和毒理学等苯型类方面发挥着关键作用,由于抗药性日益频繁,这些抗药性和毒性尤其重要。具体地说,我们介绍了这些新型机器学习方法的应用,以估计几种病原体中的抗生素抗药性。本型在使用机学方法推断出未来研究的经验教训和洞察力。