Open Targets loss of function variant curation

(PI: Dr Maya Ghoussaini and Dr Hilary Martin, Wellcome Sanger Institute)

This project will develop a fully-featured variant curation interface that integrates multiple sources of information and a structured workflow to allow trained curators to rapidly and comprehensively investigate the evidence for a candidate loss of function (LoF) variant having an impact on gene function, and to rule out major classes of sequencing and annotation artifact. This project will add value to target identification by highlighting th e existence of bona fide naturally-occurring LoFs in genes that are putative drug targets, and subsequently facilitating follow-up studies to investigate the phenotypic consequences of those variants. The CPG is working alongside Open Targets researchers to deliver this project. Find out more here and here.

The Centre for Population Genomics is a national initiative, jointly housed at the Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. We work all across the country and collaborate with partners internationally and in Australia.

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At CPG, we celebrate and respect diversity in our team and our work. We believe that including all human diversity in genomic research will empower medical care that benefits everyone.

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