Science at the Sanger Institute

From sequence to biology

The Wellcome Trust Sanger Institute's reputation has been based on its large-scale, high-quality genome sequencing projects. While these remain a foundation for the Sanger Institute's work, it is equally committed to the development of tools to analyse and annotate genome sequence data, and to biological studies of the function of genes in living systems.

This work lays the foundation for new diagnostics and therapeutics based on an understanding of human and animal health at a molecular level.

Sequencing

The Sanger Institute has made major contributions to the sequencing of the genomes of humans, yeast, the nematode worm and more than 30 pathogens.

It is a major partner in the international programme to map the mouse genome. It is also sequencing the entire zebrafish genome.

Data mining

Every day the Sanger Institute generates around 60 million bases of raw sequence data. The rate of output has increased about fourfold every year.

Sophisticated software and a large investment in compute resources keep the data organised and underpin efforts to identify genes and other sequence features. Results are analysed and presented to end users through websites such as Ensembl.

High-throughput analysis

The development of high-throughput tools has opened up new opportunities to explore gene function on a grand scale. Rather than study genes one at a time, these tools enable researchers to track the activity of thousands in a single experiment.

Two key techniques in use at the Sanger Institute are DNA microarrays and gene expression atlases - revealing which genes are active in living tissues.

Genetic variation and disease

The complete human genome sequence is derived from several anonymous individuals - 72 per cent of which is from a single male. Genetically, humans are 99.9 per cent identical, but we do differ in minute detail - and these differences can be medically important.

A key aspect of the Sanger Institute's work is to identify sequence variation in human populations, and how specific variants contribute to health and disease.

It is working to identify genetic variations such as single nucleotide polymorphisms (SNPs) and patterns of SNPs that are inherited together (haplotypes).

Postgenomic projects

A major initiative, the Cancer Genome Project is systematically searching all human genes for genetic variations implicated in cancer - a quest that has already unearthed new cancer genes and potential new therapies.

Other new projects range from addressing biomedical questions, such as how chromosomes rearrange and evolve, to uncovering the molecular basis of disease from deafness to diabetes.

Model organisms

Model organisms are vital tools for scientists studying biological processes in living organisms. The availability of genome sequences greatly aids researchers working on the function of genes in living systems.

The Sanger Institute has made important contributions to yeast, worm and zebrafish genome sequencing. The latter is particularly useful for understanding the development of vertebrates.

The most powerful model for understanding human biology and disease is the mouse, which will be central to future work at the Sanger Institute.

Pathogens

The Sanger Institute is continuing to sequence a wide range of pathogens and other microbes of biological interest, such as those that produce natural antibiotics.

It is also developing programmes of research aiming to use pathogen genome sequence data to understand microbial biology- such as why some strains are harmful and others are not.

Genomic infrastructure

All the research at the Sanger Institute is underpinned by world-class core facilities that support large-scale sequencing and analysis. It also has one of the most powerful computer facilities in Europe.

Other specialist support services provide expert assistance in many new experimental techniques.

This infrastructure is central to the Sanger Institute's productivity, and has underpinned its collaborations with numerous groups around the UK, Europe and the rest of the world.