The introduction of next-generation sequencing has led to a paradigm shift in the way genetic analysis is carried out. By providing single molecule sensitivity, easy detection of rare alleles and those of low frequency even within highly heterogeneous samples is enabled. This single molecule detection is done in a massively parallel manner allowing the inherent limitations of Sanger sequencing such as throughput, scalability, speed and resolution to be overcome. Within the constitutional disease research space, what used to entail a combined approach of linkage analysis to establish the disease gene locus, gene cloning and Sanger sequencing to interrogate specific gene candidates for the presence of the disease-associated variant, can now be condensed into a single day whole exome sequencing effort to analyze thousands of genes simultaneously with single molecule resolution. This strategy has led to the huge increase in the number of disease genes identified to cause rare Mendelian disorders1.
The SureSelect Focused Exome is a highly targeted design that enables analysis of only the disease-associated targets providing deep coverage even on a benchtop sequencer. This design provides 20 or more reads for 95% of targets at 1.5Gb (100x) of sequencing and 98% of targets with 3Gb (200x) of sequencing enabling superior coverage of disease-associated regions even when sequenced on benchtop sequencers, facilitating highly sensitive and accurate variant calling greatly reducing time to answers (Fig 1).
Focused design for deeper coverage
Current methods to elucidate disease-associated variants require labor-intensive methods that are not scalable. Exome-based assays that offer the single-molecule resolution of NGS has the economy of scale that makes it attractive to clinical researchers by providing comprehensive coverage of thousands of targets, increasing the likelihood of identifying that one variant out of a haystack of variants that can be associated with disease. Despite this advantage offered by exome sequencing, it is not compatible with current benchtop sequencers due to their limited output.
The SureSelect Focused Exome enables targeted analysis of only those regions that have previously been associated with disease such as those annotated within HGMD, OMIM and ClinVar. When compared with other similar targeted solutions, the highly optimized design of this panel coupled with the proven SureSelect technology, provides a single assay that allows for interrogation of more disease-associated regions for more comprehensive analysis of samples, making it well suited for the study of rare idiopathic disorders (Fig 2). Addition of custom content using SureDesign lets you tailor this panel to meet your specific design requirements.
Faster answers with confidence
Reduced turn-around time to answers is important in clinical research sequencing. SureSelect Focused Exome is compatible with SureSelectQXT, the fastest target enrichment workflow that enables 3.5x faster workflow compared to other competing solutions. This combined solution of SureSelect Focused Exome and SureSelectQXT enables an efficient workflow from sample-to-sequencing reducing turn-around time while providing confident variant calling.
Targeted analysis using SureCall which provides guided workflows for single or trio analysis of samples enables facilitated identification of single nucleotide variants (SNPs), indels as well as copy number variants (CNVs). Furthermore, hotspot analysis is enabled through the known variants workflow which enables locus-specific detection of variants, greatly reducing time to answers.
For Research Use Only. Not for use in diagnostic procedures