EP352: Systematic exploration of mosaic variants detected in blood samples from a primary immunodeficiency cohort referred for research exome sequencing

Abstract

Exome and genome sequencing (ES and GS) allow detection of somatic mosaic variants that are present at a lower variant allele fraction (VAF) than is observed for a typical heterozygous germline variant, which is around 50%. Recent guidelines from the American College of Medical Genetics and Genomics highlight 21 genes in which mosaic variants are commonly identified as a part of routine ES/GS for germline testing in patients with personal and/or family history inconsistent with disease associated with pathogenic germline variants these genes.