# Admixed and single-continental genome segments of the same ancestry have distinct linkage disequilibrium patterns

## TL;DR

This study compares GWAS methods in admixed populations and finds that admixed genome segments have unique linkage disequilibrium patterns compared to single-continental ones.

## Contribution

The paper introduces a theoretical framework to compare GWAS methods and highlights limitations in current models for linkage disequilibrium in admixed genomes.

## Key findings

- Standard GWAS tests are more powerful due to leveraging allele frequency heterogeneity.
- A simple method to improve multi-degrees-of-freedom tests using summary statistics is proposed.
- Admixed genome segments show distinct LD patterns compared to single-continental segments of the same ancestry.

## Abstract

Admixed populations offer valuable insight into the genetic architecture of complex traits. Many studies have proposed methods for genome-wide association study (GWAS) in admixed populations and various simulation studies have evaluated their performances. In this work, we propose another direction of comparison of recently proposed methods for admixed GWAS from a population genetic viewpoint.

Our theoretical approach mathematically and directly compares the power of methods given that the causal variant is tested. This is done by deriving the variance formula of the methods from the population genetic admixture model. Our results analytically confirm previous observation that the standard GWAS test is more powerful than alternative tests due to leveraging allele frequency heterogeneity in which alternatives do not. As a by-product, we obtain a simple method to improve the power of multi-degrees-of-freedom tests only using summary statistics. We further investigate the problem when the causal variant is not directly known but is detected by tagging variants in linkage disequilibrium (LD). The analysis shows that a genetic segment from admixed genomes may exhibit distinct LD patterns from the single-continental counterpart of the same ancestry.

While the classic admixture model is successful in predicting GWAS power, its popular extension in the literature falls short in explaining the LD patterns found in simulations and real data, warranting an improved model for LD in admixed genomes.

The online version contains supplementary material available at 10.1186/s13059-025-03672-w.