ZMIX

ZMIX estimates ancestry proportions in genome-wide association studies (GWAS) using only association Z-scores to overcome the challenge of inaccessible study reference allele frequencies.

Key Features:

• Z-score-based estimation: Estimates ethnic mixing proportions using only association Z-scores without requiring study reference allele frequencies.
• Comparable performance to reference AF-based methods: Produces results comparable to existing reference allele frequency-based methods in both simulation and real-world GWAS settings.
• Summary-statistics imputation compatibility: Produces high-quality imputations with almost identical results when applied to summary-statistics imputation.

Scientific Applications:

• Ancestry adjustment of allele frequencies: Enables adjustment of allele frequencies for ancestry when study reference allele frequencies are unavailable.
• Summary-statistics imputation: Supports imputation of association summary statistics in diverse GWAS cohorts.
• Disease candidate prioritization: Facilitates prioritization of disease candidate variants or genes through accurate ancestry proportion estimation.

Methodology:

ZMIX uses association Z-scores to estimate ethnic mixing proportions and was validated through comparison to reference AF-based methods in both simulated and real-world GWAS settings.