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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.


18 Sep 2015

Grant details
Amount Awarded 97799
Applicant Surname O'Reilly
Approval Committee ERG1 Genetics, Genomics and Population Research
Award Date 2015-09-18T00:00:00+00:00
Financial Year 2014/15
Grant Programme: Title Seed Award in Science
Internal ID 109863/Z/15/Z
Lead Applicant Dr Paul O'Reilly
Planned Dates: End Date 2018-05-26T00:00:00+00:00
Planned Dates: Start Date 2016-05-01T00:00:00+00:00
Recipient Org: Country United Kingdom
Region Greater London
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