Pacific Northwest Research Institute, Seattle, Washington, USA.
J Comput Biol. 2023 Mar;30(3):323-336. doi: 10.1089/cmb.2022.0185. Epub 2022 Nov 2.
Information theory-based measures of variable dependency (previously published) have been implemented into a software package, MIST. The design of the software and its potential uses are described, and a demonstration is presented in the discovery of modifier alleles of the gene in affecting Alzheimer's disease (AD) by analyzing the UK Biobank dataset. The modifier genes uncovered overlap strongly with genes found to be associated with AD. Others include many known to influence AD. We discuss a range of uses of the dependency calculations using MIST that can uncover additional genetic effects in similar complex datasets, like higher degrees of interaction and phenotypic pleiotropy.
基于信息理论的变量相关性度量(先前已发表)已被整合到一个软件包 MIST 中。本文描述了该软件的设计及其潜在用途,并通过分析英国生物库数据集,展示了如何利用该软件发现影响阿尔茨海默病(AD)的 基因的修饰等位基因。发现的修饰基因与与 AD 相关的基因强烈重叠。其他基因包括许多已知会影响 AD 的基因。我们讨论了使用 MIST 进行相关性计算的一系列用途,这些用途可以在类似的复杂数据集(如更高程度的相互作用和表型多效性)中发现额外的遗传效应。