Oxford Gene Technology develops optimised rare disease sequencing and analysis service

Oxford Gene Technology (OGT), a provider of innovative clinical genetics and diagnostic solutions to advance molecular medicine, has extended its Genefficiency™ Sequencing Service to provide a dedicated service for investigating rare diseases. The specifically optimised version of the service will help investigators and clinicians identify causative mutations quickly, easily and without the need for in-house technical or bioinformatics expertise.

The data produced is of the highest possible quality thanks to OGT’s externally accredited laboratory procedures and quality control systems, while analysis is made easy using the company’s unique rare disease NGS software. The company hopes that the new bespoke, cost-effective service will help speed up research into those diseases that, due to their rarity, have not traditionally attracted extensive research efforts.

Employing a workflow that is specifically configured for analysing family trios and large patient cohorts, the Genefficiency Rare Disease Sequencing Service allows researchers to filter their data and rapidly identify genomic variations of interest. An integrated results report identifies affected genes and proteins and suggests possible disease associations, with even more information available via links to external databases. In this way, researchers can go from large complex data sets to biologically relevant findings with just a few clicks of a mouse button.

James Clough, Vice President Clinical & Genomic Solutions at OGT, commented: “Since we launched our new Genefficiency Targeted Sequencing Service last year, we have seen a lot of interest from researchers and clinicians looking to investigate rare diseases using our sequencing offering. To meet this rising demand and make the genetic analysis of rare disease even easier, faster and more cost-effective, we have extended our service to offer a dedicated solution to these customers. Due to our high-throughput capabilities, we can process large sample cohorts in as little as eight weeks, while our innovative analysis platform allows users to concentrate on the biology of their study, rather than on sample processing, quality control and complex data analysis.”

OGT’s comprehensive service includes DNA enrichment using the Agilent SureSelect V4 or V4+UTR platforms, sequencing at 50x coverage on an Illumina HiSeq™2000 and expert data analysis using OGT’s software platform. OGT’s in-house bioinformatics team perform all the standard alignment and quality control processing that maximises data quality, as well as additional intelligent filtering of the information, a feature unique to OGT’s Genefficiency service. In addition to whole exome sequencing, targeted sequencing utilising OGT’s expertise in custom capture probe design is also available. To further ensure the success of each project, OGT provides users with expert consultancy at every stage, from initial experimental design through to providing clear, biologically relevant results. Perhaps most importantly, any researcher or clinician can now take advantage of next generation DNA analysis techniques, without the need for expensive in-house hardware, or internal technical and bioinformatics expertise.

To learn more about how the new rare disease sequencing service turns data into results, watch OGT’s latest video. Meet OGT at the International Congress on Research of Rare and Orphan Diseases, 29 February – 2 March, Basel, Switzerland.

For more information about OGT’s range of genomic, clinical and biomarker solutions, visit the new OGT website at www.ogt.co.uk.


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