Value of whole genome sequencing in diagnosis of developmental and epileptic encephalopathies


  • Whole genome sequencing (WGS) improves diagnostic yield over exome sequencing (ES) in developmental and epileptic encephalopathies (DEE) mainly via detection of complex structural variants in the current cohort.

Why this matters

  • The recent advent of massively parallel sequencing (MPS), including multigene panel (MGP), ES and WGS, has improved diagnosis of DEE (complex neurogenetic disorder comprising seizures, cognitive slowing/regression, movement disorders and other features); however, current consensus regarding the role of different types of MPS for diagnosis in DEE is lacking.

  • Identification of novel variants by WGS highlights the need for further research into pathogenicity evaluation of complex structural variants and novel coding to improve diagnostic yield for patients with neurogenetic disorders such as DEE.