The Agilent Technologies SureSelect™ All Exon Product Portfolio: High Performance Target Enrichment System for Human and Mouse Exome Sequencing on Illumina and SOLiD Platforms

摘要

The dramatic increase in throughput of sequencing data from next generation sequencing platforms has enabled scientists to study the genome with unprecedented depth and accuracy. Nevertheless, routine genetic screens in large numbers of individuals continue to remain costprohibitive through these approaches. Agilent Technologies' SureSelect platform for targeted exome capture, combined with massively parallel sequencing, provides a more affordable method to gain novel insights into the genetic causes of inherited disorders. In addition, identification of both common and rare polymorphisms implicated in complex diseases like cancer is greatly facilitated by selectively sequencing the protein-coding regions of the genome. In collaboration with the Broad and Sanger Institutes, Agilent Technologies has continued to expand the number of SureSelect target enrichment catalog products in order to enable a more comprehensive view of the protein-coding regions in humans and model organisms. We discuss the SureSelectHuman All Exon v2 (44Mb) and SureSelectHuman All Exon 50Mb designs. We also introduce the SureSelectMouse All Exon target enrichment system, which improves the ability to study genetic variation between strains in greater detail, and significantly increases the efficiency of screening for causative mutations in N-ethyl-N-nitrosourea (ENU)-mutagenized mice. We demonstrate high performance with respect to capture efficiency, uniformity, reproducibility of enrichment, and ability to detect SNPs, insertion/deletions, and CNVs across Illumina (Genome Analyzer IIx and HiSeq2000) and SOLiD platforms. We highlight the utility of the SureSelect All Exon product portfolio for a wide variety of applications primarily due to the high specificity and excellent cross-platform sequence coverage. SureSelect All Exon designs also provide a means for standardization, consistency of performance, and reliability across multiple laboratories.