Whole Exome Sequencing

Whole exome sequencing (WES) investigates genetic variations of underlying diseases such as cancers, Mendelian diseases, and complex human disorders. This method targets protein-coding regions responsible for disease-related variants, providing a more cost-effective approach than whole genome sequencing (WGS).

We offer customizable human and mouse WES solutions at the research-use only (RUO) level and clinical whole exome sequencing solutions in our CLIA-certified and CAP-accredited lab.

How does whole exome sequencing work?

Whole exome sequencing works by using capture probes (synthesized oligonucleotides) or baits designed to specifically hybridize the exons (coding portions of genes), rather than enriching all the genomic DNA. Library preparation comes next, wherein sequencing adapters are added to the enriched protein-coding DNA fragments and sequenced via high-throughput sequencing, often next generation sequencing (NGS).

What is an exome sequencing sequence?

An exome sequencing sequence is the protein-coding region of the genome, known as the exome, that is sequenced via next generation sequencing (NGS). The resulting sequencing data is then used to identify genetic variants and influences on disease.

Exome Sequencing Service Options

Exome Sequencing for Research Use Only

Our research-grade service provides customizable solutions for human and mouse exome sequencing. Flexible service packages are available to meet your budget and deadline requirements.

Clinical Exome Sequencing

Our clinical workflows are performed in a CLIA-certified lab by CLIA-trained personnel on CLIA-qualified equipment. Receive the highest level of regulatory compliance with our CLIA-validated clinical exome sequencing assay.

Verify your final targets of interest using Azenta’s confirmatory sequencing service.

Exome Sequencing Coverage For Any Application

50x coverage

(~5 Gb output)

Germline variant discovery
Uncovering disease-associated genotypes
100x coverage

(~10 Gb output)

Somatic mutation discovery
Tumor/normal sequencing
≥200x coverage

(20+ Gb output)

Low frequency mutation detection
Measuring tumor mutational burden (TMB)

Features & Benefits

Superior data quality with a guarantee of ≥80% bases with ≥Q30 for 2x150 bp sequencing (>90% on average)

Multiple capture technologies available including Agilent SureSelect™ Human All Exon

In-house pipeline for optional Sanger-based confirmatory sequencing of final targets utilizing your NGS samples

Dedicated support from Ph.D.-level project managers at every step including post-delivery support

Complete sample-to-analysis solutions including flexible extraction and data analysis options available

More reasons to choose Azenta

Exome Sequencing Workflow

1. Hybridization Capture

Fragment gDNA, bind probes to exons, and pull down

2. Library Preparation

Add adapters to exon-enriched DNA

3. Sequencing

Sequence 2x150 bp on Illumina® platform

4. Data Analysis

Identify SNVs, INDELs, gene fusions, and CNVs

Technical Resources

Webinar| Non-Classical Sources of Tumour-Specific Antigen in Checkpoint Inhibitor Response

Developing immunotherapies for cancer can be difficult due to the variation of immune response from patient to patient. In this webinar, Dr. Litchfield from UCL Cancer Institute presents his team’s exploratory research using a multiomics approach to better understand the diversity of immune response to cancer and highlights their findings of an alternative source of a tumour-specific antigen in checkpoint inhibitor (CPI) response.

NGS PLATFORMS

For information on our NGS platforms as well as recommended configurations of your projects, please visit the NGS Platforms page. Azenta does not guarantee data output or quality for sequencing-only projects.