Article
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Human genetics - 1 Jan 2018
Tang Clara Sze-Man, Dattani Saloni, So Man-Ting, Cherny Stacey S, Tam Paul K H, Sham Pak C, Garcia-Barcelo Maria-Mercè
Abstract excerpt
Recently, the American College of Medical Genetics (ACMG) recommended the return of actionable secondary findings detected from clinical sequencing. The reported frequency of secondary findings in Asian populations were highly variable and it is unclear whether the uniformity in coverage offered by whole-genome sequencing (WGS) may impact the estimate. In this analysis, we aimed to refine the rate of secondary...
Topics
- Asian People
- Genetic Testing
- Genetic Variation
- Genome, Human
- Humans
- Molecular Sequence Annotation
- Mutation, Missense
- RNA Splicing
- Sequence Analysis, DNA
- Whole Genome Sequencing