Targeted Sequencing Services
OGT can help you get straight to the variant of interest with whole exome or custom 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.
“I am very satisfied with the exome sequencing services offered by OGT. The tailored analyses of high-quality exome datasets that is offered by OGT has saved us considerable time and effort in identifying pathogenic variants. The comprehensive interactive data analysis report is particularly useful, very user friendly and allows the rapid prioritisation of the data”. Ken McElreavey, Director of the Human Developmental Genetics Department, Institute of Pasteur
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.
Working with OGT on a trio analysis we were able to identify a novel, de novo mutation which proved to be the causal mutation. OGT's NGS report allowed us to complete the analysis without a resident bioinformatician, which was incredibly useful”. Dr Christian Netzer, Head of the Human Genetics division MVZ, University Hospital of Cologne
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.
Using OGT's sequencing and analysis expertise, we were able to filter over 100,000 DNA variants to a single causative mutation in a matter of minutes. We were delighted with the speed and quality of the service, plus the ease-of-use of the analysis platform". Dr Bernd Wollnik, Professor of Human Genetics, University Hospital of Cologne
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.
- 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:
- Protein domains
- Mapping of variants and indels to coding / regulatory regions
- Multi-genome comparison
- Exclusion of variants from baseline genome
- Identification of variants shared by all affected samples
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.
Sequencing and microarrays for genome analysis: complementary rather than competing?
When to use targeted resequencing — choosing the right NGS method
Applying microarray and sequencing technologies to cancer studies
Next generation sequencing survey 2013