Background
- Genome sequencing (GS) and exome sequencing (ES) have been increasingly used as clinical diagnostic tools for individuals with a suspected underlying genetic disorder.
- Depending on the clinical indication and other factors, GS/ES have a diagnostic yield of ~25-40%.
- However, there are many individuals who remain undiagnosed following GS/ES.
- As gene-disease associations are established, variant classifications are updated, and bioinformatic analytic workflows improve over time, reanalysis of GS/ES data can increase diagnostic yield and reduce uncertainty of previous genetic findings.
