Secondary findings and carrier test frequencies in a large multiethnic sample.

ABSTRACT:

Background

Besides its growing importance in clinical diagnostics and understanding the genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich source of additional information of potential clinical utility for physicians, patients and their families. We analyzed the frequency and nature of single nucleotide variants (SNVs) considered secondary findings and recessive disease allele carrier status in the exomes of 8554 individuals from a large, randomly sampled cohort study and 2514 patients from a study of presumed Mendelian disease having undergone WES.

Methods

We used the same sequencing platform and data processing pipeline to analyze all samples and characterized the distributions of reported pathogenic (ClinVar, Human Gene Mutation Databa

SUBMITTER: Gambin T 

PROVIDER: S-EPMC4507324 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature