Research

Whole Exome Sequencing

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 QCtarget enrichment to library quantification that enable the preparation of high-quality DNA libraries, critical for obtaining high-quality whole exome sequencing data.

Available Products by Workflow

Workflow Step
Product
Benefits
Sample QC Reagents
KAPA NGS FFPE & QC KIt (new)

Reliable quantification and quality assessment of low-input or FFPE samples to optimize library construction yields and workflows

Target Enrichment Reagents

KAPA HyperExome

  • Reduce sequencing costs and save time with superior capture uniformity
  • Demonstrated design expertise, 10+ years of experience
  • Reliably enrich challenging, previously inaccessible genomic regions
KAPA HyperCap Workflow v3 Streamline targeted sequencing with HyperCap workflow v3
Library Preparation Reagents

KAPA DNA Library Preparation Kits

KAPA Library Preparation Accessories

KAPA Adapters

KAPA Library Amplification Kits

KAPA Library Quantification Kits

Tailor your library preparation workflow to your needs with a portfolio of streamlined, versatile solutions that reliably preserve sample sequence complexity for improved sequencing outcomes

For Research Use Only. Not for use in diagnostic procedures.

References

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