I have been participating in the annotation of the human genome for 18 years and now lead an annotation team based at UCL, which has submitted around 12% of the manual Gene Ontology annotations associated with human genes. Gene Ontology (GO) is the de facto standard to describe the biological function of genes and is the most widely used biomedical ontology. In addition, my team also contributes protein interaction data to the IMEx consortium. Our annotations are made publically available, through our close collaboration with the European Bioinformatics Institute, Cambridge.
The work undertaken by my group enables us to align gene curation with the expertise available at UCL, providing a unique curation approach. In addition, we have carried out functional analyses of high-throughput datasets (Alam-Faruque, et al., 2011), which demonstrate that the annotations we create have a significant impact on data interpretation. I am an active member of the Gene Ontology Consortium, often leading working group discussions, such as one in 2011 that led to the expansion of GO to fully describe the process of cardiac electrophysiology.
I also have developed and teach a bioinformatics core module on the MSc in Human Disease Genetics and, run annual two-day bioinformatics workshops at UCL, which have enabled over 200 scientists to learn how to use a variety of online genomic resources in their data analyses and interpretation. In addition, my understanding of GO has led to collaborations in functional analysis of proteomic, transcriptomic, miRNA and genome wide association datasets (Ferrari et al., 2016, Evans et al., 2016, White et al., 2016, Manzoni et al., 2015, Kalea et al., 2015, Asselbergs et al., 2013, Stables et al., 2011).