Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
- Principal Research Associate
- Centre for Cardiovascular Genetics
- Institute of Cardiovascular Science
- Faculty of Pop Health Sciences
I have been participating in the annotation of the human genome for over 15 years and now lead an annotation team based at UCL. Having completed my PhD in Professor Michael Ashburner's group at Cambridge, I moved to London where the focus of my research was directed towards immunology. Firstly, cloning a zinc finger genes expressed in B-cells, in Professor John Trowsdale's group, at Imperial Cancer Research Fund. Then working in Professor Christine Kinnon's group, at the Institute of Child Heath, mapping and characterising the gene responsible for X-linked aggammaglobulinanemia. Following a child-associated career break I joined UCL and became involved with naming human genes in Professor Sue Povey's HUGO Gene Nomeclature Committee. I quickly realised that I wanted to expand this activity to include the association of Gene Ontology terms with the genes I was researching and naming. Following the success of this approach, I joined the Cardiovascular Genetics group, and started working on the annotation of cardiovascular disease relevant human genes. I now lead an annotation team based at UCL, which has submitted over 10% of the manual Gene Ontology annotations associated with human genes and is now contributing protein interaction data to the EBI resource IntAct.
Gene Ontology (GO) is the de facto standard to describe the biological function of genes and is the most widely used biomedical ontology. The functional gene annotation team at UCL has submitted over 10% of the manual Gene Ontology annotations associated with human genes and is now contributing protein interaction data to the EBI resource IntAct. Our annotations are made publically available, through our close collaboration with the European Bioinformatics Institute and have been propagated through the world’s leading biological databases, including Ensembl and NCBI Gene, and even to Wikipedia.
Our unique curation approach enables us to align the curation process with the expertise available at UCL. 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. The importance of these annotations is now recognised by disease-focused grant bodies, including the British Heart Foundation, Parkinson’s UK and Kidney Research UK, the first two of which have provided funding, which has enabled the annotation team at UCL to expand to 5 biocurators. I am an active member of the Gene Ontology Consortium, which is an international body funded by NHGRI, often leading working group discussions, such as one in 2011 that led to the expansion of GO to fully describe the process of cardiac conduction.
|1988||PhD||Doctor of Philosophy – Genetics||University of Cambridge|
|1984||BSc Hons||Bachelor of Science (Honours) – Genetics||University of Sheffield|