Fig. 1: Workflow of the SPAGxECCT framework. | Nature Communications

Fig. 1: Workflow of the SPAGxECCT framework.

From: Efficient and accurate framework for genome-wide gene-environment interaction analysis in large-scale biobanks

Fig. 1

The SPAGxECCT framework consists of two main steps: (1) fitting a genotype-independent model to calculate residuals, and (2) computing test statistics based on p values for marginal genetic effects and associating traits of interest with single genetic variant by approximating the null distribution of test statistics. Leveraging a hybrid strategy combining normal distribution approximation and saddlepoint approximation, SPAGxECCT is scalable for analyzing large-scale biobank data and maintains high accuracy for rare genetic variants, even under unbalanced phenotypic distributions.

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