CLC bio part of EU Project Aiming to Diagnose Genetic Disorders Using High-throughput Sequencing
News Dec 08, 2009
The goal of the TECHGENE project is to incorporate the novel massively parallel sequencing technology in routine diagnostic laboratories for the improved diagnosis of genetically heterogeneous diseases. To do so, focus is on a number of model disorders that have shown different degrees of genetic complexity. Some of these model disorders selected are hemoglobinopathies, hereditary breast cancer, paraplegias, ataxias, mental retardation, and sensory disorders including blindness, deafness, and Usher syndrome.
Chairman of the Dutch Society for clinical genetic laboratory specialists, Hans Scheffer, PhD, states, "We have decided to work with CLC bio as their platform for genomics analyses is best-in-class. Their flexible architecture allows CLC bio to extend their CLC Genomics Workbench application with features on amplicon resequencing, making CLC bio the ideal partner for the TECHGENE consortium. With this user-friendly and integrated solution, our researchers will eliminate the need forusing several methods and separate software for each different diagnostics method and thereby greatly enhance our workflows."
Senior bioinformatics specialist at CLC bio, Patrick Dekker, PhD, continues, "Being part of the TECHGENE project provides an excellent opportunity to developa solid solution for diagnostics using amplicon high throughput resequencing in conjuction with some of the most esteemed institutions.We look forward to providing the scientists involved with the ability todiagnose patients based on various chromosomal and gene regions, locate SNPs and Deletion/Insertion polymorphisms, copy number variations, among other things."
New massively parallel sequencing diagnostics will be developed for these model disorders by CLC bio. The model disorders can be considered as prototypes for a wider group of diseases. The diagnostics tools developed will be applicable to a wider range of genetic disorders.
Previous work by the International Multiple Sclerosis Genetics Consortium (IMSGC) has identified 233 genetic risk variants. However, these only account for about 20% of overall disease risk, with the remaining genetic culprits proving elusive. A new study has tracked down four of these hard-to-find genes.READ MORE