Oxford: Software for conducting genome-wide association studies

Licensing opportunity

ISIS Innovation, the technology transfer arm of Oxford University, is looking for licensees for: GenoSNP, software for conducting genotyping studies without the need for a without a reference population.

Current genotyping algorithms typically require a large number of control samples that have been sampled on the same array and platform. Scientists at Oxford have now developed GenoSNP, an algorithm which is entirely independent of such control samples. The researchers say this will enable the study of individual samples.

Existing genotype calling methods typically assume that the user has generated data for a large number (100-1000s) of samples, or that a reference database is available, against which to compare specific samples.

GenoSNP differs from this standard paradigm by working on one sample at a time. Originally designed to operate with Illumina Infinium single nucleotide polymorphism (SNP) genotyping array systems, GenoSNP takes advantage of microarray technologies where the probe-specific variation is small, relative to the overall signal separation between genotype classes.

GenoSNP is able to achieve genotyping accuracies of greater than 99 per cent on the Illumina SNP genotyping platform. It is also immune to many potential biases that are commonly observed in genome-wide association studies and introduced by factors such as DNA batch effects and laboratory or machine-specific calibration effects.

Investigation of rare variants are a further important part of modern genome-wide association studies and the researchers claim GenoSNP can analyse rare variants with high accuracy.

GenoSNP per-sample functionally is also beneficial for users of customisable genotyping arrays where suitable reference panels may not exist, or may have to be produced at considerable additional cost to the user.

Further Information, contact Isis Innovation, quoting: Project Number 7376 - Genome-Wide Association Study Software.