Effect of DNA insert length on whole-exome sequencing enrichment efficiency: an observational study

Anna Krasnenko,1,2 Kirill Tsukanov,1 Ivan Stetsenko,1 Olesya Klimchuk,1 Nikolay Plotnikov,1 Ekaterina Surkova,1 Valery Ilinsky1,3,4 1Genotek Ltd., Moscow, Russia; 2Pirogov Russian National Research Medical University, Moscow, Russia; 3Institute of Biomedical Chemistry, Moscow, Russia; 4Vavilov Institute of General Genetics, Moscow, Russia 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. Keywords: NGS, WES, enrichment efficiency, insert size