Utilization of a Touchdown PCR Strategy to Amplify Low Coverage Regions and Variants Defined by Next Generation Sequencing

Next-generation sequencing (NGS) provides a cost-effective means for simultaneously interrogating vast amounts of the genome. Even with target enrichment strategies, some regions of the genome remain difficult to capture. We utilized a custom-designed SureSelect (Agilent, Santa Clara, CA) target enrichment followed by sequencing using a HiSeq 2000 (Illumina, San Diego, CA) to sequence the coding regions of 568 clinically …