Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Emma Elizabeth PalmerRani SachdevRebecca MacintoshUirá Souto MeloStefan MundlosSarah RighettiTejaswi KandulaAndre E MinocheClare PuttickVelimir GayevskiyLuke HessonSenel IdrisogluCheryl A ShoubridgeMonica Hong Ngoc ThaiRyan L DavisAlexander P DrewHugo SampaioPeter Ian AndrewsJohn A LawsonMichael CardamoneDavid MowatAlison ColleySarah KummerfeldMarcel E DingerMark J CowleyTony RoscioliAnn M E ByeEdwin KirkPublished in: Neurology (2021)
WGS was able to improve diagnostic yield over ES primarily through the detection of complex structural variants (n = 3). The higher diagnostic yield was otherwise better attributed to the power of re-analysis rather than inherent advantages of the WGS platform. Additional research is required to assist in the assessment of pathogenicity of novel noncoding and complex structural variants and further improve diagnostic yield for patients with DEE and other neurogenetic disorders.