Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis.

ABSTRACT: Despite the significant advances in understanding the genetic architecture of epilepsy, many patients do not receive a molecular diagnosis after genomic testing. Re-analysing existing genomic data has emerged as a potent method to increase diagnostic yields-providing the benefits of genomic-enabled medicine to more individuals afflicted with a range of different conditions. The primary drivers for these new diagnoses are the discovery of novel gene-disease and variants-disease relationships; however, most decisions to trigger re-analysis are based on the passage of time rather than the accumulation of new knowledge. To explore how our understanding of a specific condition changes and how this impacts re-analysis of genomic data from epilepsy patients, we developed Vigelint. This approach c

SUBMITTER: Robertson AJ 

PROVIDER: S-EPMC10987647 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature