Team Leader, Vertebrate Annotation
Bronwen Aken leads the Vertebrate Annotation team, which is the gene annotation and comparative genomics component of the Ensembl project. Bronwen joined Ensembl at the Wellcome Trust Sanger Institute in 2005 as a developer working on gene annotation. She has since led the gene annotation team and been a primary analysis coordinator for Ensembl. Bronwen holds a Bsc in Molecular and Cell Biology from the University of Cape Town, South Africa, and an MSc in Bioinformatics and Computational Biology from Rhodes University, South Africa.
ba1 [at] ebi.ac.uk
ORCID iD: 0000-0002-3032-4095
Tel:+ 44 (0) 1223 494 167 / Fax:+ 44 (0) 1223 494 468
The Vertebrate Annotation team create comprehensive, up-to-date gene annotation and comparative genomics resources that further our understanding of biology, evolution and the mechanisms of disease. The data from these resources are distributed by the Ensembl project, and provide a foundation for clinical and research communities.
While the reference genome assembly is an increasingly important tool for research, most scientists working in this area need to link genomic sequence to biological function. This is made possible by evidence-based gene annotations, which identify the location, structure and expression of genes. Our comparative genomics resources link diverse species at the DNA and gene level and include gene families, gene orthologues, whole genome multi-species alignments and conserved genomic regions across many species. These data are used for investigating gene function and evolution, adaptive traits and conservation biology. We are also responsible for TreeFam, which clusters similar gene sequences into homologous families and indicates gene history events such as duplication and speciation.
Our main activities are: Developing alignment and annotation methods that integrate data from the public archives, building these methods into scalable pipelines, and running them in a production environment using eHive.
In collaboration with partners in the GENCODE project, we aim to generate the most comprehensive gene set for human and mouse. As new data become available, we integrate these to ensure an accurate and up-to-date reference gene set. This includes combining manually curated genes with Ensembl genes, and annotating the alternate sequences that are provided by the Genome Reference Consortium.
We also collaborate with partners in the CCDS project to identify a core set of human and mouse protein coding regions that are consistently annotated and of high quality. The long term goal of CCDS is to support convergence towards a standard set of gene annotations.