OGT Genefficiency Rare Disease Sequencing Service

Oxford Gene Technology (OGT) has extended its Genefficiency Sequencing Service to provide a dedicated service for investigating rare diseases. The 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 claimed to be of high quality due to the company’s externally accredited laboratory procedures and quality control systems, while analysis is made easy using the company’s rare disease NGS software. High-throughput capabilities mean large sample cohorts can be processed in as little as eight weeks, while the analysis platform allows users to concentrate on the biology of their study, rather than on sample processing, quality control and complex data analysis.

Employing a workflow that is 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 the mouse.

The 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.

In addition to whole exome sequencing, targeted sequencing using 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.