Oxford: Software improves gene copy number analysis

Licensing opportunity

Researchers at the Wellcome Trust Centre for Human Genetics and the Department of Statistics at Oxford University, UK, have developed a software package which they say significantly improves the accuracy of genetic analysis critical in revealing information about susceptibility to different diseases and in developing new diagnostic technologies. The software is now available for nonexclusive commercial licensing. Time-limited evaluation licences may also be granted for interested parties.

The new software is able to profile copy number polymorphisms and single nucleotide polymorphisms simultaneously, which leads to more effective characterisation of the genetic alterations associated with a specific disease. An accurate statistical algorithm to detect copy number variant events is vital for the meaningful identification of relevant copy number polymorphisms both in genome-wide and region-specific association studies of complex disease.

Companies such as Affymetrix and Illumina have developed platform technologies facilitating such an approach, but there is a need for improved software able to interpret the data generated by these systems. The researchers have developed a highly tailored Objective Bayes Hidden-Markov Model to do this, which has been validated by breakpoint boundaries.