Oxford Software Improves Gene Analysis
4th June 2008
Oxford researchers have developed a software package which significantly improves the accuracy of genetic analysis critical in revealing information about susceptibility to different diseases and in developing new diagnostic technologies.
Gene Analysis
The new software is able to profile copy number polymorphisms and SNPs simultaneously, which leads to more effective characterisation of the genetic alterations associated with a specific disease.
Affymetrix and Illumina have developed platform technologies facilitating such an approach in gene analysis, 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.
An 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.
