Our achievements and contributions in genetics place the Sanger Institute at the forefront of the field. From our contribution to the Human Genome Project to the role we play in large-scale biomedical research consortia, we have contributed to some of the most important genetic discoveries of the past 15 years. Here are some of our most notable achievements.

Chromosomes sequenced at the Sanger Institute.

Chromosomes sequenced at the Sanger Institute. [Genome Research Limited]


Delivering the human genome

The Sanger Institute contributed almost one-third of the sequence to the Human Genome Project, which was completed in 2003. This was the largest single contribution and the Sanger Institute was the only UK institution involved. The complete sequence is freely and publicly available and provides a priceless resource for all genetic research into human health and disease.

Revealing the genetics behind common disease

The Sanger Institute plays an integral role in the Wellcome Trust Case Control Consortium (WTCCC), a group of around 50 research organisations across the UK, established in 2005. A leading example of collaboration and data sharing, the Consortium builds on the human genome sequence and maps of variation to uncover new important disease associations. Consortia of clinicians and researchers are essential for the kind of large-scale studies that are needed to investigate common human diseases. More than 90 new disease-causing variants have been identified since the inception of the Case Control Consortium.

Resources for experimental biomedicine

The Sanger Institute played a major role in the draft sequence of the mouse genome, published in Nature in 2002 by the Mouse Genome Sequencing Consortium. We built upon this by playing a leadership role in producing the high-quality finished sequence of four mouse chromosomes. In 2008 we committed to sequencing a further 17 mouse strains used in biomedical research, with support from the UK Medical Research Council. The results will be freely available for researchers globally.

More than 90 disease-causing variants have been found since the WTCCC's inception.

A global network to tackle malaria

The international MalariaGEN network, founded in 2005, is a key part of our effort to combat the effects of the malaria parasite. The consortium is a data-sharing community of researchers across the globe, including countries directly affected by malaria, which seeks to discover mechanisms of protective immunity to malaria. Our participation reflects our conviction that open access data and collaboration are fundamental to scientific advance. The consortium aims to play a significant role in the Global Malaria Action Plan, which seeks to eradicate deaths caused by malaria, almost completely, by 2015.

Interpreted genomes for all

Bioinformatics, the application of computer power to understanding biology, is integral to modern genetic research and developing understanding of health and disease. Together with the European Bioinformatics Institute (EBI), the Sanger Institute developed, launched and maintains one of the world's most important genomic resources: The Ensembl Genome Browser. The Ensembl project has been crucial in coping with the increasing output of sequence data that can be generated using new sequencing platforms.

Map showing distribution of malaria around the world.

Map showing distribution of malaria around the world. [Genome Research Limited]


The Sanger Institute played an important role in the International HapMap Project, which provided researchers with a map on which they could locate genes affecting health, disease, and response to pharmaceuticals and environmental factors. We also led the Copy Number Variation Project, which revealed, for the first time, the extent of structural variation in the human genome. The Institute plays a lead role in the 1000 Genomes project, set up in 2008 to view variations in DNA at a high resolution. Collaborations such as these among scientists and among funding agencies are essential if global resources of this scale are to be developed.

In 2008, the Institute was the most cited in the UK.

Data access to drive discovery

The Institute is proud to have been one of the prime movers to make sequence data freely available. One of the Institute's primary aims is to produce scientific output that can be translated into healthcare benefits. Making genomic and post-genomic data widely available speeds scientific progress and leads to rapid application to disease studies. This policy was developed under John Sulston, the Institute's founding Director, who led the world in ensuring that the human genome sequence was a publically available resource. We pioneered this ethos of data sharing and the philosophy has been a resolute part of our policies throughout the Sanger Institute's existence. The data that we generate continues to be shared as swiftly as possible with due respect for the rights of research participants.

A graph showing the Institute's publication output.

A graph showing the Institute's publication output. [Genome Research Limited]


Publishing original research

Institute authors published 280 original research articles in the first eight years to 2001: today we publish 280 articles each year. This dramatic increase in publications is a reflection of the strength of Allan Bradley's Faculty recruitment programme. But it is not only the scale of these research outputs that measure our achievements. Their influence, also, has grown. In 2008, Science Watch found the Institute to be the most cited in the UK; the analysis also showed that Richard Durbin, a senior Sanger Institute investigator, to be the most influential researcher in the UK, based on citations. These achievements highlight how our focus has developed from our sequencing projects, to producing original academic research in genetics and disease.

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