Evaluating the Calibration and Power of Three Gene-Based Association Tests of Rare Variants for the X Chromosome.

Abstract excerpt

Although genome-wide association studies (GWAS) have identified thousands of trait-associated genetic variants, there are relatively few findings on the X chromosome. For analysis of low-frequency variants (minor allele frequency <5%), investigators can use region- or gene-based tests where multiple variants are analyzed jointly to increase power. To date, there are no gene-based tests designed for association...

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