Reconstructing SNP allele and genotype frequencies from GWAS summary statistics.

ABSTRACT: The emergence of genome-wide association studies (GWAS) has led to the creation of large repositories of human genetic variation, creating enormous opportunities for genetic research and worldwide collaboration. Methods that are based on GWAS summary statistics seek to leverage such records, overcoming barriers that often exist in individual-level data access while also offering significant computational savings. Such summary-statistics-based applications include GWAS meta-analysis, with and without sample overlap, and case-case GWAS. We compare performance of leading methods for summary-statistics-based genomic analysis and also introduce a novel framework that can unify usual summary-statistics-based implementations via the reconstruction of allelic and genotypic frequencies and counts (

SUBMITTER: Yang Z 

PROVIDER: S-EPMC9114146 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature