GENOME RESEARCH LIMITED represented by The Wellcome Trust Sanger Institute, Cambridge, United Kingdom

SangerDescription of organisation

The Wellcome Trust Sanger Institute is operated by Genome Research Limited, a charity registered in England with number 1021457 and a company registered in England with number 2742969, whose registered office is 215 Euston Road, London, NW1 2BE. The Wellcome Trust Sanger Institute is one of the world's leading genomics centres and is primarily funded by the Wellcome Trust. Founded in 1992 to play a substantial role in the Human Genome Project, the Sanger Institute is dedicated to determining the function of genes to inform healthcare. The Sanger Institute has been a leader of some of the most important biological programmes over the past 15 years, as well as being part of some of the major discoveries in biomedicine. These capabilities are founded in a unique standard of high-throughput research, integrated programmes and world-leading researchers driven by a passion for discovery.


Previous Experience

Dr Tim Hubbard has a long history of leadership in the analysis and visualisation of vertebrate genomic data since joining the Sanger Institute as Head of Human Genome Analysis in 1997. This has included building up expertise and resources for gene annotation through the HAVANA team and in founding the Ensembl project in 1999. Within his research group he has a long history of software development projects including the initial development of the biojava programming framework and the development of components of DAS (Distributed Annotation System) as well as an active research programme developing machine learning algorithms for DNA motif discovery. His experience dates back to the co-founding of the SCOP (structural classification of proteins) database in 1994, thought to be the first biological database designed from the start to take advantage of the then new world wide web. Since 2007 he has been the PI of the NIH funded ENCODE production grant to create the GENCODE integrated geneset for human. He is also the Sanger Institute PI of the Genome Reference Consortium which is responsible for reference genome sequences of human, mouse and zebrafish. He is also actively involved in the development of European bioinformatics research infrastructures and integration with healthcare informatics systems. He served on a Biology Expert Group of the European Strategy Forum for Research Infrastructures (ESFRI) (2005-2006) and is currently chair of the Physical Infrastructure work package of ELIXIR, one of the resulting ESFRI projects. He has also served on the E-health Records Research Board of the UK Government Office for Strategic Coordination of Health Research (OSCHR) (2007-2009) and currently serves on a working group of the UK Department of Health Human Genomics Strategy Group (HGSG) and the steering group of the National Genetics Reference Laboratories (NGRL).


Profile of key institute members

Tim Hubbard is Head of Informatics at the Sanger Institute and the PI leading this application. He leads the Vertebrate Genome Analysis group, which generates and presents core vertebrate genome annotation and maintains the reference genome sequences. Richard Durbin is Joint Acting Head of Human Genetics. He has worked on many areas of biological sequence analysis and is currently focused on studying human genetic variation by genome-wide resequencing using new sequencing technologies. He is co-chair of the 1000 genomes project. Mike Stratton is Director of the Wellcome Trust Sanger Institute, where he is joint head of the Cancer Genome Project, which aims to elucidate the genetic causes of human cancers. He was one of the primary forces behind the creation of the International Cancer Genome Consortium (ICGC).



Wellcome Trust Sanger Institute



Recent publications relevant to the project

1. Flicek, P., Aken, B. L., Ballester, B. et al., Ensembl's 10th year, Nucleic Acids Res 28 (Database issue), D557 (2010).


2. Harrow, J., Denoeud, F., Frankish, A. et al., GENCODE: producing a reference annotation for ENCODE, Genome Biol 7 Suppl 1, S4 1 (2006).


3. The ENCODE Project Consortium, Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project, Nature 447 (7146), 799 (2007).


4. The 1000 Genomes Project Consortium, A map of human genome variation from population-scale sequencing, Nature 467 (7319), 1061 (2010).


5. International Cancer Genome Consortium, International network of cancer genome projects, Nature 464 (7291), 993 (2010).