Rare disease and family trio sequencing
OGT’s Targeted Sequencing Service helps rare disease investigators identify causative mutations in patient cohorts and family trios quickly, easily and without the need for in-house sequencing or bioinformatics expertise.
- Comprehensive service including DNA enrichment using Agilent SureSelect v5, sequencing at 50x coverage on an Illumina HiSeqTM2000 and expert data analysis
- Get to the answer quickly. Use OGT’s unique and complimentary software to rapidly filter variants by depth of coverage, novelty, predicted effect and chromosomal location
- Cost-effectively validate results in larger patient cohorts using our experience in custom capture probe design to target putative genes
- Take advantage of our commitment to an 8-week turnaround time
Software demo: Detecting rare disease variants
Read what our customers have to say:
"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 service, plus the ease-of-use of the analysis platform."
Dr Bernd Wollnik, Institute of Human Genetics, University Hospital of Cologne