Overview

Focuses on coding regions of the genome.

Whole exome sequencing (WES) provides coverage of more than 95% of the exons, which harbor the majority of the genetic variants associated with human disease phenotypes.¹ It offers researchers the ability to use sequencing and analysis resources more efficiently by focusing on the most relevant portion of the genome (the coding regions) and facilitates the discovery and validation of common and rare variants. Sequencing of the exome provides many of the benefits of whole-genome sequencing (WGS) with greatly reduced resources.

Why whole exome sequencing?

● Enables comprehensive coverage of exons to target medically relevant genomic regions, including known disease-associated sites and untranslated regions (UTRs)

● Increases variant discovery potential, including rare and low-frequency mutations using next generation sequencing (NGS) technology

● Eliminates the need to sequence the entire genome, offering a cost-effective alternative to WGS

How does WES work?

Genomic DNA is fragmented, and targeted regions are captured by hybridization using biotinylated oligonucleotide probes in solution. The captured target sequences are isolated using streptavidin beads, and after washing and elution steps, are used for subsequent amplification and sequencing.

Roche Sequencing Solutions offers an entire suite of products from sample QC, target enrichment to library quantification that enable the preparation of high-quality DNA libraries, critical for obtaining high-quality whole exome sequencing data.

Workflow

Available Products by Workflow
Workflow Step	Product	Benefits
Sample QC	KAPA hgDNA Quantification & QC Kits	Reliable quantification and quality assessment of low-input or FFPE samples to optimize library construction yields and workflows
Target Enrichment	SeqCap® EZ MedExome Kit SeqCap EZ Exome Kit V3 SeqCap HGSC VCRome Kit SeqCap EZ Exome + UTR Kit HyperCap Workflow products	Reduced sequencing costs Ability to focus only on the regions of interest Integrated, streamlined workflow solution
Library Preparation	KAPA HyperPrep Kits KAPA HTP/LTP Library Preparation Kits KAPA HyperPlus Kits HyperCap Workflow products	High-quality library construction from FFPE and a wide range of sample types and inputs in less than 3 hours Integrated, low-bias enzymatic fragmentation for fully automated, high-throughput exome pipelines Integrated, streamlined workflow solution
Library Amplification	KAPA Library Amplification Kit	Minimal amplification bias that improves the quality and diversity of pre-capture libraries and sequencing coverage*
Library Quantification	KAPA Library Quantification Kits	Accurate quantification of adapter-ligated molecules prior to sample pooling and cluster generation for optimal sequencing results

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References

1. Rabbani et al. The promise of whole-exome sequencing in medical genetics. 2014, J of human genetics, 59, 5-15.

*Data on file.

Whole Exome Sequencing

Research Use Only. Not for use in diagnostic procedures.
KAPA and SEQCAP are trademarks of Roche.