Detecting inversion polymorphisms from SNP data

Year of award: 2015


  • Dr Paul O’Reilly

    King's College London

Project summary

The overarching aim of this project is to determine the most powerful method for detecting and genotyping single-mutation inversion polymorphisms from data from single nucleotide polymorphisms. It is presently unclear which SNP-based inversion detection method is the best, and so before embarking on costly validation via sequencing in a larger study, we will perform a comprehensive comparison study to determine the most powerful method.

The development of the methodology, a comparison study and the associated software tool we produce will provide a perfect platform for a larger study and application to investigate the impact of inversions on disease, the genome and the evolution of our species.

Two methods will be developed to completion in the project and they will be extended to detect more complex inversions in the larger study.