Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

ABSTRACT: Exome sequencing (ES) has become an important tool in pediatric genomic medicine, improving identification of disease-associated variation due to assay breadth. Depth is also afforded by ES, enabling detection of lower-frequency mosaic variation compared to Sanger sequencing in the studied tissue, thus enhancing diagnostic yield. Within a pediatric tertiary-care hospital, we report two years of clinical ES data from probands evaluated for genetic disease to assess diagnostic yield, characteristics of causal variants, and prevalence of mosaicism among disease-causing variants. Exome-derived, phenotype-driven variant data from 357 probands was analyzed concurrent with parental ES data, when available. Blood was the source of nucleic acid. Sequence read alignments were manually reviewed for a

SUBMITTER: Miller CR 

PROVIDER: S-EPMC7304353 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature