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"Low Duplication Rates and High-Complexity Exome Analysis with Twist Exome 2.0 Panel and DNBSEQ-G400 Sequencing Platform"

This application note from Complete Genomics demonstrates the compatibility of Twist library preparation and targeted enrichment products for whole-exome sequencing on the DNBSEQ-G400 sequencing platform, resulting in low duplication rates and high library complexity even at lower sequencing depths.

Next-generation sequencing (NGS) has empowered scientists with the increased ability to identify genetic variations associated with human disease. Rapidly evolving NGS technology has provided increased resolution and sensitivity while simultaneously reducing costs. For research groups or facilities providing genetic services, it is essential to balance the need to generate high-quality data with the need to reduce costs. Three NGS approaches that are commonly employed are whole-genome sequencing (WGS), whole-exome sequencing (WES), and targeted panels.

While targeted panels and WGS have their benefits, they also have limitations. For example, targeted panels may require revisions and validation according to evolving standards in each field. While WGS allows the interrogation of most coding and non-coding regions of the genome, the high cost remains a significant barrier to routine testing. The exome on the other hand, comprises the protein coding region of known genes and constitutes 1-2 percent of the human genome. Approximately 85 percent of disease-causing variants are found in the exome, and exome sequencing is an ideal approach for determining the genetic basis of a disease.

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