A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

ABSTRACT:

Background

Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged as routine clinical diagnostic tests. To date, few systematic analyses of mosaic variants detected by diagnostic exome sequencing for diverse clinical indications have been performed.

Methods

To investigate the frequency, type, allelic fraction, and phenotypic consequences of clinically relevant somatic mosaic single nucleotide variants (SNVs) and characteristics of the corresponding genes, we retrospectively queried reported mosaic variants from a cohort of ~ 12,000 samples submitted for clinical exome sequencing (ES) at Baylor Genetics

SUBMITTER: Cao Y 

PROVIDER: S-EPMC6660700 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature