Optimisation of targeted DNA sequencing

Entitled, “Fishing for variants in the deep end of the gene pool”, the document discusses how the intelligent design of custom bait probes can significantly improve data quality by decreasing off-target noise, increasing the depth of coverage and optimising the sensitivity of variant detection.

Well-designed probes can also be used to investigate GC-rich areas of the genome, thereby ensuring studies are not biased towards low-GC regions.

Whilst whole exome sequencing offers a powerful route into analysis of Mendelian disorders and provides a platform for GWAS studies, custom designs offer significant advantages where the biological question is more focused.

Examples include the follow up of genome wide association studies (GWAS) or investigations into the mutational analysis of specific pathways or genes in a clinical context.

Targeted sequencing offers greater depth of coverage, reduced cost, simpler data analysis and shorter time to results. However, the design of custom baits for such studies is not straightforward and poor design strategies can render the results unusable.

To download the report, please click on the link above.