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sffdr package

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Introduction

The sffdr package implements the surrogate functional false discovery rate (sfFDR) procedure. This methodology integrates GWAS summary statistics from related traits (i.e., pleiotropy) to increase statistical power within the functional FDR framework. The inputs into sffdr are a set of p-values from a GWAS of interest and a set of p-values from one or many informative GWAS.

The significance quantities estimated by sffdr can be used for a variety of analyses:

  • Functional p-value (fp): Controls the type I error rate and can be used for standard significance analyses.
  • Functional q-value (fq): A measure of significance in terms of the positive FDR (closely related to FDR).
  • Functional local FDR (flfdr): A posterior error probability that is useful for functional fine-mapping and assessing significance of a SNP.

Citing this package

The methods implemented in this package are described in:

Bass AJ, Wallace C. Exploiting pleiotropy to enhance variant discovery with functional false discovery rates. Nature Computational Science; 2025.

Note that this work is an extension of the functional FDR methodology and the software builds on some of the functions in the fFDR package found at https://github.com/StoreyLab/fFDR.

Getting help

To report any bugs or issues related to usage please report it on GitHub at https://github.com/ajbass/sffdr.

Installation

You can install the development version of sffdr from GitHub:

# install development version of package
install.packages("devtools")
devtools::install_github("ajbass/sffdr")

Quick start guide

To demonstrate the package, we will use a sample dataset containing 10,000 SNPs for body mass index (BMI) as the primary trait of interest, with body fat percentage (BFP), cholesterol, and triglycerides as informative traits.

library(sffdr)
data(bmi)
# Define primary p-values and informative p-values
p <- sumstats$bmi
z <- as.matrix(sumstats[,-1])
head(sumstats)

1. Modeling the functional proportion of null tests

Read the original on github.com ↗