Quantisnp software for copy number variant id - Isis Project No 3195

Oxford researchers have developed a software application able to analyse SNP genotyping data and identify the presence of copy number variants.

MARKETING OPPORTUNITY

The development and validation of novel approaches to accurately and quickly map copy number changes in the human genome is important for the implementation of novel diagnostic strategies.

Developments in microarray technologies have enabled the high-throughput study of chromosomal aberrations, and there is particular interest in the application of SNP array platforms to detect copy number variants associated with susceptibility to different diseases. This interest stems from the ability of this approach to profile copy number polymorphisms and SNPs simultaneously, which leads to more effective characterisation of the genetic alterations associated with a specific disease. The companies 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 OXFORD INVENTION

Oxford researchers have developed a highly tailored Objective Bayes Hidden-Markov Model to automatically infer regions of copy number variation from the Illumina BeadArray genotyping data; QuantiSNP. The Oxford software significantly improves the accuracy of copy number variant identification and mapping relative to existing analytical tools, as demonstrated by validation of breakpoint boundaries.

While QuantiSNP was developed to analyse SNP data generated by the Illumina BeadArray system, it can also be adapted to other platforms.

A highly accurate statistical algorithm, such as QuantiSNP, for the detection of 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.

COMMERCIAL AVAILABILITY

The QuantiSNP software is available through Isis for non-exclusive licensing. Please contact the Isis Project Manager for further details.

Request Further Information: Project Number 3195 - QuantiSNP Software for Copy Number Variant ID