A cost-effective high-throughput solution that combines low-depth whole genome sequencing (WGS) with higher-depth and coverage of pre-selected target regions on the genome, such that a single sequencing run simultaneously yields low-depth sequence data across the genome at the same time as assaying specific SNPs, variants, or genes of interest with clinical-grade accuracy. Compared with a traditional genotyping assay, this solution provides an order of magnitude more data and enables the discovery of novel variants with higher statistical power.

DNA Strand

Indexed NGS libraries are prepared from DNA using the library preparation kit. Solution-based target capture for enrichment employs probes to capture target sequences in an NGS library. Specific genes, exons and/or other genomic regions are targeted and enriched using innovative solution-based target enrichment probes designed for optimised coverage. Probes are carefully selected to avoid off-target capture, taking account of relevant genomic events, such as insertions/deletions, fusions, and microsatellite instability. Target DNA is hybridised to oligonucleotides primers affixed to synthetic beads, with the bait oligos being complementary to the genomic region of interest. Following hybridisation a wash step is used to remove unbound ’off-target’ DNA, thus enriching the sequencing libraries for the regions of interest. The accuracy, simplicity and utility of the hybridization approach are well demonstrated. 

As WGS sequencing costs continue to fall, researchers have the potential of increasing the amount and power of the data generated while lowering overall costs. The Customer is also able to customise sequencing depth based on the samples, for example, samples from known groups of interests such as underrepresented ethnic groups.