Roche research method validated for detecting genomic deletions and duplications

Roche NimbleGen has developed a multiplex, microarray-based research method for use in genetic disorder study, it has been reported.

The research method is used for detecting genomic duplications and deletions at high-resolution and findings have shown exon-level variants in DNA sampled taken from patients and carriers of a number of diseases.

Muscular dystrophies and cystic fibrosis were highlighted by the journal Human Mutation, which published the findings.

A research team led by Jamel Chelly used the multiplex CGH technology to design and build custom arrays that were then used to interrogate 158 exons from a set of eight genes that are associated with cystic fibrosis, sarcoglycanopathies and Duchenne and Becker muscular dystrophy.

Dr Chelly said: "The method is very powerful as it allows simultaneous analysis of a large number of exons, i.e. 158 exons corresponding to eight disease genes."

He added that the method can allow the investigation of a large number of samples at once as each slide contains four arrays.

Roche NimbleGen is hosting a workshop on microarrays next month, those in science sales jobs may be interested to know.