Bringing Gene Ontology to cardiovascular research
Ruth Lovering1, Varsha Khodiyar1, Emily Dimmer2, Tony Sawford2, Peter Scambler3, Mike
Hubank4, Rolf Apweiler2, Philippa J Talmud1
1
Centre for Cardiovascular Genetics, Department of Medicine, University College London, Rayne Institute, 5
2
University Street, London WC1E 6JF, UK, European Bioinformatics Institute, Hinxton, Cambridge, CB10
3
1SD, UK. Molecular Medicine Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
4
Molecular Hematology and Cancer Biology Unit, Institute of Child Health, 30 Guilford Street, London WC1N
1EH, UK
Email: r.lovering@ucl.ac.uk, Tel: +44 20 7679 6965
URL: www.cardiovasculargeneontology.com
Gene Ontology (GO) vocabularies are an established standard for linking functional information to genes and
gene products (www.geneontology.org). A recent collaboration between University College London and the
European Bioinformatics Institute is providing GO annotation to human cardiovascular-associated genes
(www.cardiovasculargeneontology.com)
The overall objective of the Cardiovascular Gene Ontology (GO) Annotation Initiative is to provide a unique
public resource for the cardiovascular community both in the UK and internationally, by providing
comprehensive functional annotation for genes implicated in heart development and cardiovascular
processes and disease. High-throughput genomics and systems biology are particularly powerful tools for
the investigation of multi-factorial phenotypes, such as cardiovascular disease. However, the interpretation of
high-throughput analysis is often limited by the quality and quantity of the annotations available.
Consequently, the ability to identify discriminatory groupings within a dataset can be vastly improved by
additional annotations, associating more specific functions to the genes in the dataset. Comprehensive
annotation of the human genome using GO is a
formidable undertaking and although several
approaches have been instigated to achieve
this, more manual annotation is still required.
In addition to annotating gene products
associated with cardiovascular systems and
disease the Cardiovascular Gene Ontology
(GO) Annotation Initiative is helping to improve
the ontology of GO, in areas such as heart
development, apoptosis, signalling pathways
and cardiac conduction (See Figure 1). This
continued expansion of GO allows gene
product annotators to comprehensively capture
highly specific information relevant to genes
involved in cardiovascular disease.
The Cardiovascular GO Annotation Initiative
aims to focus manual annotation on the human
genes involved in cardiovascular-related
processes and systems. This concentrated
effort to improve the information content of the
GOC
dataset
will
facilitate
effective
interpretation of the data resulting from highthroughput methodologies and will be of benefit
to many researchers seeking to alleviate
cardiovascular diseases.
This project is supported by the British Heart
Foundation grant BHF SP/07/007/23671.
Figure 1. QuickGO view of GO (www.ebi.ac.uk/QuickGO)
displays 5 of the 280 heart development terms, the majority of
which have been created through BHF funding.