New targeted sequencing service identifies causative mutations from patient cohorts and family trios
Oxford Gene Technology (OGT), a provider of 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 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 company hopes that 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 of Clinical and Genomic Solutions at OGT, said: '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 service includes DNA enrichment using the Agilent SureSelect V4 or V4+UTR platforms, sequencing at 50x coverage on an Illumina HiSeq2000 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.
