论文标题
非线性异质转录组关联的统一分位数框架
A unified quantile framework for nonlinear heterogeneous transcriptome-wide associations
论文作者
论文摘要
整个转录组的关联研究（TWA）是通过整合全基因组关联研究和基因表达数据来识别基因级关联的强大工具。但是，大多数TWA方法都集中在基因和性状之间的线性关联上，而忽略了生物系统中可能存在的复杂非线性关系。为了解决这一限制，我们提出了一个新颖的框架QTWA，该框架将基于分位数的基因表达模型整合到TWAS模型中，从而发现了非线性和异质基因性状属性关联。通过对连续和二进制特征的全面模拟和应用，我们证明了所提出的模型在识别基因性状关联方面比常规的TWA更强大。
Transcriptome-wide association studies (TWAS) are powerful tools for identifying gene-level associations by integrating genome-wide association studies and gene expression data. However, most TWAS methods focus on linear associations between genes and traits, ignoring the complex nonlinear relationships that may be present in biological systems. To address this limitation, we propose a novel framework, QTWAS, which integrates a quantile-based gene expression model into the TWAS model, allowing for the discovery of nonlinear and heterogeneous gene-trait associations. Via comprehensive simulations and applications to both continuous and binary traits, we demonstrate that the proposed model is more powerful than conventional TWAS in identifying gene-trait associations.
