After sequencing the human genome, Sanger Institute researchers went on to lead and collaborate in international projects and sequence further groups of people to better capture human genetic diversity. Researchers used each new technology as it emerged to study genomes in more detail and more accurately than had previously been possible.
These projects include the HapMap project – which provided an initial database of over 3 million human DNA variants present in 270 DNA samples. Information and methods developed by the HapMap Project fuelled a first generation of ‘Genome Wide Association Studies’ (GWAS) that have localised over 600 new genetic risk factors for common diseases such as diabetes, heart attack, inflammatory bowel disease, breast cancer, schizophrenia, and other disorders.
Building on this, the 1000 genomes project consortium exploited the first next-generation DNA sequencing technologies to develop a database including more human populations. The data provided the most comprehensive view of global human variation so far. This database contains all forms of variation – from single letter DNA changes to large alterations in the structure and copy number of segments of chromosomes. The reference data resources generated by the project remain heavily used by the biomedical science community.
The UK10K project followed – which aimed to better understand the link between low-frequency and rare genetic changes and human disease. In 2015, the consortium published findings that showed new genetic variations linked to health, described population structures and functional annotation of rare and low-frequency genetic variants. Data and web-based tools to enable others to explore the results were made freely available.
Most recently, staff sequenced nearly 250,000 whole human genomes for the UK Biobank project, a study which brings together health, lifestyle and now genomic data for half a million people. The work is the largest DNA sequencing project of its kind, and data are available for researchers around the world to access. The resource is enabling research into human biology and health, and the ongoing, fundamental questions of how genetic variation relates to disease