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Abstract:
Whole-exome sequencing (WES) currently allows the identification of the genetic basis of disease for 25%–40% of patients. A key element of WES is high-quality library preparation and target enrichment. In this short report, we examine the critical role of insert size (library portion between the adapter sequences) for enrichment efficiency. Our data can be used to improve WES results when applying the insertion size selection step.
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Disclosure
The authors are employed by Genotek Ltd. The authors report no other conflicts of interest in this work.