Oxford: Genetic polymorphism profiling software

27 May 2008 | News

Licensing opportunity

Researchers at the Wellcome Trust Centre for Human Genetics in Oxford, UK, have developed software that allows scientists to characterise genetic copy number variants associated with specific diseases. The technology, called QuantiSNP, interprets data generated by gene arrays, and is available for non-exclusive licensing.

Platform technologies such as Illumina’s BeadAssay system detect copy number polymorphisms and single nucleotide polymorphisms simultaneously. QuantiSNP software analyses data from these gene arrays and, says the Centre, interprets changes in the human genome accurately and quickly.

The technology relies on the Objective Bayes Hidden-Markov Model to infer the regions of copy number variation from the genotyping data generated by the Illumina BeadArray, and identifies copy number variations associated with complex diseases.


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