Presenting a novel variant classification system using homozygosity at ASHG 2018

Matthew Wakeling, University of Exeter Medical School

 

Aims

I intend to use the grant to present my research at the American Society of Human Genetics (ASHG) conference in San Diego in October 2018.  This conference is one of the largest in the world with a wide variety of parallel tracks in diverse subject areas from world leading researchers and policy makers.

My research aims to further our understanding of the information that can be extracted from genetic sequencing technologies, particularly with regard to monogenic diabetes and congenital hyperinsulinism.  I gave an oral presentation at the 2017 ASHG conference on novel methods for detecting copy number variants, homozygous regions, and shared haplotypes over the whole genome using targeted sequencing data.  This was well-received, and the software implementation has been downloaded and used worldwide.  I also want to hear about the latest methods from other researchers, in order to apply them to my work, or stimulate new ideas.

Presenting my work at this prestigious conference would bring attention to my research on sequence analysis methods and raise my profile internationally.  It is also a great way to meet potential future collaborators and otherwise communicate research to a wider audience.

 

Grant awarded: £1,380