Exome and targeted sequencing allows scientists to capture or target specific regions of the genome, in a large number of samples. Regions such as those identified by WGA studies, as well as exomes of affected and control subjects, can be effectively captured and sequenced. High throughput sequencing has made it financially feasible to assess the genetic variation within the captured DNA fragments.

Currently, there are several approaches to enrich the DNA sample, PCR, long range PCR, array hybridization, in-solution hybridization, or chromosome sorting. After enrichment, the samples can be pool using the multiplexing/barcoding capabilities of the next generation sequencing technology. With our partners EdgeBio, we leverage the Agilent SureSelect system for capture and sequence via multiple NextGen sequencers, and fully automated LIMS and bioinformatic pipelines, all to provide high quality data with very little delay. Custom analysis is available.

 EXOME ANALYSIS PIPELINE

Data Analysis and Visualisation

• Rich Variant Analysis and Annotation
• Delivery in Standardised Formats
• Cancer vs. Normal Differential Analysis

Integration

• Open Source and Commercial Software
• LIMS Systems and Variant Databases

Development

• Specialised Algorithms
• Customised Data Analysis Pipelines

Sampling of Recent Projects

• Identification of the genetic basis of colorectal cancer through exome sequencing
• Identification of the genetic basis of a novel syndrome with skeletal dysplasia through exome sequencing
• Exome sequencing of Tumour / Normal Leukaemia patients to identify novel mutations present in tumour samples
• Exome sequencing of a large cohort (80+) to identify novel mutations linked to phenotypic changes

Bioinformatics Highlights

• Robust, in-house, automated pipelines able to scale to hundreds of exomes at a time
• Dedicated in-house MD, PhD and MS level Informaticians for more customised analysis
• High capacity computer infrastructure so you don't have to invest in any (>100 compute cores and >100TB storage)

EdgeBio Lab Highlights

• Life Technologies Preferred Service Provider
• Agilent SureSelect Certified Service Provider
• Need only 3µg of genomic DNA
• Multiple NextGen Sequencing Platforms currently in use
• Automated sample prep via Biomek FX and Caliper SciClone

We understand the importance of getting it right, quickly and accurately, the first time. That's why each client is assigned a scientific project manager to help facilitate the project design process. We provide sequencing via seven NextGen sequencers and have a fully automated QC, LIMS and bioinformatics pipeline. All to provide high quality data, quickly, and at a reasonable cost.

Pricing is dependent on organism and desired project design. For further information please contact our Molecular Biology Product Manager, Catherine Mair (email: cmair@vhbio.com or tel: +44 (0)191 495 8211).