Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysis
Alan J. Robertson,
Khoa A. Tran,
Carmen Bennett
et al.
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 deci… Show more
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