I am Scientific Lead at Repositive, a Cambridge start-up company focusing on efficient human genomic data discovery, access and sharing. I am also a 2016 fellow of the Software Sustainability Institute and Board of Directors of the International Society for Computational Biology. Previously I was Technical Coordinator of the Horizon 2020 Research Infrastructure ELIXIR-UK, coordinator of the BioJS open source community and Chair of the Technical Committee for the Global Organisation for Bioinformatics Learning, Education and Training (GOBLET). I hold a Ph.D. in Computer Science from the University of Manchester, UK, and did my post-doctoral work in clinical genomics at the Wellcome Trust Sanger Institute, Cambridge, developing the DECIPHER database. I received an M.Sc. in Bioinformatics from the University of Manchester, and a B.Sc. in Biology from the University of Navarra, Spain.
2002-2007 PhD Bioinformatics, University of Manchester, UK
2000-2002 MSc Computational Molecular Biology, University of Manchester, UK
1999-2000 Erasmus program, University of Southampton, UK
1995-1999 BSc (Hons) Biomedical Sciences, University of Navarre, Spain
- Sep 2016 – Present Repositive.io, Cambridge, UK (Scientific Lead). My goals revolve around: a) building a community of engaged users around the Repositive human data themes, b) building successful use cases and applications and c) raising Repositive’s scientific profile around the theme of genomics data sharing.
- Feb 2012 – Sep 2016 The Genome Analysis Centre (TGAC), Norwich, UK (Project Leader). Next Generation Sequencing data analysis, expression and regulation mechanisms of various organisms, including human health. Development of visualisation methods for -Omics Big Data. Development of tools for analysis of personal genomes.
- Sep 2014 – Feb 2016 Technical Coordinator, ELIXIR-UK. Coordinate implementation of Big Data infrastructure to support the establishment of sustainable bioinformatics resources Europe-wide.
- Apr 2011 – Jan 2015 itico.org. Director of Itico, a non-for-profit organisation registered in Cambridge, England. Development of the iAnn platform, recently adopted by ELIXIR and GOBLET (Global Organisation for Bioinformatics Learning, Education and Training).
- Sept 2008 – Jan 2012 Wellcome Trust Sanger Institute, Cambridge, UK (Senior Web Developer/Postdoctoral Scientist; Lead Scientist: Dr Nigel Carter, Lead Clinician: Dr Helen Firth). Research and development of DECIPHER (http://decipher.sanger.ac.uk), a clinical genomics database for diagnosis of patients with rare genomic disorders. Developed bioinformatics tools for visualisation and analysis of personal genomes.
- Jan-Aug 2008 European Bioinformatics Institute, UK (Scientific Programmer; supervisors: Dr Pascal Kahlem and Dr Ewan Birney). Set up a systems biology database, EnDICTION, for integration of computer-generated protein-protein interactions predictions from the ENFIN network of Excellence.
- Aug-Dec 2007 Spanish National Bioinformatics Institute, Spain (Scientific Coordinator for the institute, led by Alfonso Valencia). Developed the Institute’s portal and delivered strategic training of Spanish bioinformatics tools throughout the country.
- Jul-Sep 2003 San Diego Supercomputer Center, University of California at San Diego, USA (Internship at the Protein Data Bank in Phil Bourne’s group). Studied the relationship of structural homology vs. sequence homology using PDB and PRINTS databases data. Funded by the World Universities Network.
- Apr 2002 – Jun 2007 Faculty of Life Sciences and Faculty of Computer Science, University of Manchester, UK (PhD Student; supervisors: Prof Terri Attwood and Dr Steve Pettifer). Study of structural factors contributing most to sequence conservation in protein families. Created web tools that identify conserved sequence regions. Funded by the Department of Computer Science at the University of Manchester.
- Jul-Oct 2001 Virginia Bioinformatics Institute (Internship for MSc Dissertation; Supervisor, Prof Pedro Mendes). Parser in C++ for GEPASI (a biochemical pathway simulator) to allow automatic exchange of data with Systems Biology Markup Language (SBML)