Tiered analysis of whole-exome sequencing for epilepsy diagnosis
Paul J. Dunn, Bridget H. Maher, Cassie L. Albury, Shani Stuart, Heidi G. Sutherland, Neven Maksemous, Miles C. Benton, Robert A. Smith, Larisa M. Haupt, Lyn R. Griffiths
Topics & Concepts
Missense mutationBiologyExome sequencingGeneticsFrameshift mutationMutationExomeEpilepsyConcordanceHuman geneticsCOLD-PCRPhenotypeDNA sequencingGenePoint mutationNeuroscienceGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersEpilepsy research and treatment