Assessing reproducibility of inherited variants detected with short-read whole genome sequencing

By January 3, 2022March 21st, 2022Publications


Reproducible detection of inherited variants with whole genome sequencing (WGS) is vital for the implementation of precision medicine and is a complicated process in which each step affects variant call quality. Systematically assessing reproducibility of inherited variants with WGS and impact of each step in the process is needed for understanding and improving quality of inherited variants from WGS.