WES of homo sapiens: Severe epilepsy, developmental regression, intellectual disability
Sample was sent to Affiliated Genetics in Salt Lake City, Utah, where genomic DNA was extracted and exons sequenced using the Life Technologies Ampliseq Exome RDY kit and the Life Technologies Proton sequencing system.These targeted regions were sequenced using the Ion Proton sequencing system using Ion Hi-Q Chemistry with 200 bp reads.