Techgene, the EU project to develop next-generation sequencing (NGS) diagnostic tools for genetic disorders, has selected CLC Bio as its software partner.
The goal of the Techgene project is to incorporate massively parallel sequencing technology in routine diagnostic laboratories to improve the diagnosis of genetically heterogeneous diseases.
To do so, the project will focus on a number of model disorders that have shown different degrees of genetic complexity.
Among the model disorders selected are hemoglobinopathies, hereditary breast cancer, paraplegias, ataxias and mental retardation; and sensory disorders including blindness, deafness, and Usher syndrome.
CLC Bio will develop new massively parallel sequencing diagnostics for these model disorders.
The model disorders can be considered as prototypes for a wider group of diseases.
The diagnostic tools developed will be applicable to a wider range of genetic disorders.
