Detecting inversion polymorphisms from SNP data (360G-Wellcome-109863_Z_15_Z)
The overarching aim of this project is to determine the most powerful method for detecting and genotyping single-mutation inversion polymorphisms from SNP data. The PI has conceived two such methods that will be developed to completion in the project because: (1) the PI considers them likely to out-perform the alternatives, and (2) the PI plans to extend them further to detect more complex inversions in the larger study. It is presently unclear which SNP-based inversion detection method has grea test power, and so before embarking on costly validation via sequencing in a larger study, we perform a comprehensive comparison study here to determine the most powerful method. While the PI is ideally placed to perform such a study given his development of the invertFREGENE inversion simulation software, such a rigorous comparison is extremely computationally and time-demanding and thus represents the primary focus for this project, requiring the postdoctoral researcher. The methodology develo pment, comparison study and associated software tool produced by this project, together provide a perfect platform for a larger study and application planned subsequently to investigate the impact of inversions on disease, the genome and the evolution of our species.
£97,799 18 Sep 2015