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 joint national initiative of Garvan Institute of Medical Research and the Murdoch Children’s Research Institute. The Institutes are national leaders in genomic research, with complementary strengths spanning large-scale genomics, data science, population health, and clinical impact.

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