Today the 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.
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 for using 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 develop a 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 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.
Exploring the G:Box and for high-quality imaging