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EU project implements parallel sequencing tools for disease diagnosis

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EU project, Techgene, which focuses on developing Next Generation Sequencing (NGS) diagnostic tools for genetic disorders, has incorporated software from CLC bio in routine diagnostic laboratories to improve diagnosis of genetically heterogeneous diseases.

Techgene focuses on a number of model disorders that have shown different degrees of genetic complexity, including 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, Dr Hans Scheffer, stated: '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 for using several methods and separate software for each different diagnostics method and thereby greatly enhance our workflows.'

Senior bioinformatics specialist at CLC bio, Dr Patrick Dekker, continued: 'Being part of the Techgene project provides an excellent opportunity to develop a solid solution for diagnostics using amplicon high throughput resequencing in conjunction with some of the most esteemed institutions. We look forward to providing the scientists involved with the ability to diagnose 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.