StocSum: stochastic summary statistics for whole genome sequencing studies.

ABSTRACT: Genomic summary statistics, usually defined as single-variant test results from genome-wide association studies, have been widely used to advance the genetics field in a wide range of applications. Applications that involve multiple genetic variants also require their correlations or linkage disequilibrium (LD) information, often obtained from an external reference panel. In practice, it is usually difficult to find suitable external reference panels that represent the LD structure for underrepresented and admixed populations, or rare genetic variants from whole genome sequencing (WGS) studies, limiting the scope of applications for genomic summary statistics. Here we introduce StocSum, a novel reference-panel-free statistical framework for generating, managing, and analyzing stochastic su

SUBMITTER: Wang N 

PROVIDER: S-EPMC10104122 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature