Aschenbrenner Anna C, Bonaguro Lorenzo
Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), 53127 Bonn, Germany.
Systems Medicine, Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE), 53127 Bonn, Germany; Genomics and Immunoregulation, Life & Medical Sciences (LIMES) Institute, University of Bonn, 53113 Bonn, Germany.
STAR Protoc. 2023 Mar 24;4(2):102193. doi: 10.1016/j.xpro.2023.102193.
Variance of gene expression is intrinsic to any given natural population. Here, we present a protocol to analyze this variance using a conditional quasi loss- and gain-of-function approach. The huva (human variation) package takes advantage of population-scale multi-omics data to infer gene function and the relationship between phenotype and gene expression. We describe the steps for setting up the huva workspace, formatting datasets, performing huva experiments, and exporting data. For complete details on the use and execution of this protocol, please refer to Bonaguro et al. (2022)..
基因表达的变异性是任何给定自然种群所固有的。在此，我们提出一种使用条件性准功能丧失和功能获得方法来分析这种变异性的方案。huva（人类变异）软件包利用群体规模的多组学数据来推断基因功能以及表型与基因表达之间的关系。我们描述了设置huva工作区、格式化数据集、进行huva实验以及导出数据的步骤。有关此方案的使用和执行的完整详细信息，请参考博纳古罗等人（2022年）的研究。
