Targeted Sequencing Services

Genefficiency™ targeted sequencing services are designed to be different, leading you all the way from project conception to high-quality results. Our expert and comprehensive project design and analysis solutions — incorporating Agilent SureSelect, Illumina HiSeq 2000 and OGT-developed software platforms — are tailored to your specific needs allowing you to discover, not just sequence. Results are delivered in an interactive report, allowing rapid identification of meaningful variation, without the requirement for in-house bioinformatics resource.

Genefficiency Targeted Sequencing Services deliver:

• Expert whole exome or custom capture and enrichment
• Effective project and capture probe design
• Cost-efficient barcoding and sequencing
• Comprehensive interactive data analysis report, allowing rapid filtering and prioritisation of data
• A dedication to quality from sample preparation to data interpretation

Listen to our recent Webinar: Exome Sequencing and Analysis Strategies that Deliver Meaningful Results

Effective project and capture probe design

Our flexible, comprehensive service allows you to sequence either whole exomes or custom genomic regions. We have fully optimised the DNA capture and sequencing methodologies, so you don’t have to. We provide advice on all aspects of your targeted sequencing study — from design of custom capture libraries through to sequencing depth and multiplexing. Together we will implement the ideal project to suit your specific objectives and budget.

Advanced data analysis, including filtering and prioritisation of data

Our experienced bioinformaticians offer you advanced analysis, annotation and filtering of the variants identified, allowing you to rapidly and effectively pinpoint the regions of genetic variation that are most relevant to your study, and avoid bottlenecks in bioinformatics analysis. Results are provided in an interactive report, which comes complete with all the relevant raw and analysed data. Data can be interrogated using simple point-and-click navigation to rapidly identify meaningful variation — without the need for in-house bioinformatics resource. 

Figure 1: Delivering the complete solution for targeted sequencing — from sample to qualified result.

Dedication to quality

High-quality data requires a high-quality process. Poor laboratory practice can have potentially serious consequences. We employ stringent quality control metrics at every stage of the process to ensure your sequencing will be successful, giving you the highest confidence in the results you generate. Our industry-leading Laboratory Information Management System (LIMS) monitors each step of the process and has been validated on large genomic studies involving >20,000 samples. The OGT management system is certified to the ISO9001:2008 and ISO27001:2005 international standards for quality and information security management by the British Standards Institute.

Delivering the complete solution — from sample to result

Step 1: Selection of most appropriate genomic content

Implement the most effective solution for your study and budget:

• Pre-designed, validated whole exome capture probes
• Expert custom design of capture probes for your regions of interest
  • Maximise uniformity of coverage across each region — maximise your likelihood of discovery
  • Smaller regions allow greater multiplexing — more cost-effective sequencing
  • Immediately focus your analysis efforts on your region of interest, (e.g. known candidate regions for cancer or inherited disease)

Step 2: Capture, barcoding and sequencing

Fully flexible options for capture and pre-sequencing sample preparation:

• Preparation of genomic DNA using a Covaris® instrument, providing uniform DNA fragmentation to ensure high-quality on-target sequencing
• Barcoding to enable cost-efficient use of sequencer capacity through sample multiplexing
• Full sample tracking using our bespoke LIMS
• Rigorous quality control and reporting steps
• Sequencing on industry-leading next generation platforms

Step 3: Analysis, filtering and prioritisation of data

We offer three levels of data analysis which can be tailored to your specific requirements: Standard, Advanced and Expert. 

Standard

• Comprehensive sequencing QC report
• Mapping of reads against reference genome
• Assembly into contigs
• Local re-alignment to call indels accurately
• De-duplication of reads
• Detailed assembly QC report
• Quality score re-calibration for greater accuracy
• Variant and indel calling
• Preliminary filtering and annotation of variants including:
  • dbSNP
  • Protein domains
  • SIFT
  • PolyPhen
• Mapping of variants and indels to coding / regulatory regions

Advanced

• Multi-genome comparison
• Exclusion of variants from baseline genome
• Identification of variants shared by all affected samples

Expert

Bespoke analysis based on your individual project requirements, for example meta analysis or focused analysis in defined candidate regions

Translating data into information with OGT’s advanced analysis pipeline

Contact us to discuss your specific targeted sequencing requirements. View our product profiles for more detailed information about our dedicated Rare Disease and Trio Sequencing, and Cancer Sequencing Services. In addition, view our video demos to see our powerful NGS data browser in action.