Application Note

Human & Microbial Genomes with Roche & Element AVITI™ System

Screenshot of application note for Element AVITIIn the past decades, extraordinary progress has been made in sequencing technologies, leading to a significant reduction in per-base cost and increase in throughput and data quality. Access to whole-genome sequencing (WGS) has broadened to many applications in infectious disease, public health and food safety. This progress in sequencing technology has also enabled massive population-level projects for the discovery of new genetic biomarkers in human diseases and traits.

The Roche library preparation portfolio offers versatile, highly efficient workflows for a variety of sequencing applications, including WGS, whole-exome sequencing (WES), targeted sequencing, ChIP-Seq, RNA-Seq and Methyl-Seq. The KAPA HyperPrep Kit and KAPA HyperPlus Kit include mechanical or enzymatic DNA fragmentation, respectively, providing streamlined and single-tube solutions for the ligation-based construction of sequencing libraries. The recently launched KAPA EvoPlus Kit offers improved enzymatic DNA fragmentation robustness and insensitivity to inhibitors, in a simplified workflow that combines fragmentation and A-tailing in a single step. In addition, all KAPA library preparation kits are validated with the KAPA HyperCap v3.0 target enrichment workflow, which includes several probe panels tailored to different sample types and applications, including human WES.

The rapid improvement in sample preparation methods is driving the emergence of novel sequencing technologies that offer flexibility without sacrificing data quality. In particular, Element Biosciences' benchtop sequencing platform, Element AVITI™ System, uses a novel Avidite™ chemistry enabling a combination of exceptional accuracy, low cost, and operational efficiency. The instrument is designed to operate two independent flow cells and to fit seamlessly into any workflow.

This Application Note describes a new approach for sample preparation and sequencing by combining KAPA library preparation workflows from Roche with the sequencing platform and chemistry from Element Biosciences. The performance of this combined workflow was evaluated for bacterial WGS, human WES, and human WGS.

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