Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.

ABSTRACT:

Background

Inherited susceptibility to common, complex diseases may be caused by rare, pathogenic variants ("monogenic") or by the cumulative effect of numerous common variants ("polygenic"). Comprehensive genome interpretation should enable assessment for both monogenic and polygenic components of inherited risk. The traditional approach requires two distinct genetic testing technologies-high coverage sequencing of known genes to detect monogenic variants and a genome-wide genotyping array followed by imputation to calculate genome-wide polygenic scores (GPSs). We assessed the feasibility and accuracy of using low coverage whole genome sequencing (lcWGS) as an alternative to genotyping arrays to calculate GPSs.

Methods

First, we performed downsampling and imputation of WGS

SUBMITTER: Homburger JR 

PROVIDER: S-EPMC6880438 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature