CLC bio part of EU project aiming to diagnose genetic disorders using high-throughput sequencing

12-10-2009: Tthe EU project, TECHGENE, that focuses on developing Next Generation Sequencing (NGS) diagnostic tools for genetic disorders, announced that CLC bio has been selected as the software partner for this project. 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.

Senior bioinformatics specialist at CLC bio, Patrick Dekker, PhD, states, "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."