Whole Exome Sequencing

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. That is why an integrated approach to sample preparation, for applications such as targeted sequencing, which encompasses all the steps required to convert a sample to a sequencing-ready library is beneficial in your research considering the precious nature of NGS samples. Therefore, we offer Roche Sample Prep Solutions, from sample collection to library quantification for different sample types and sequencing applications that are proven, simple and complete.


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.

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 Prime Exome

SeqCap EZ MedExome Probes

SeqCap EZ Exome Probes V3

SeqCap HGSC VCRome Probes

SeqCap EZ Exome + UTR Probes

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

Featured Webinar

Increasing percentage of analyzed patients using a highly streamlined library prep workflow for exome and long-insert libraries

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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.