Not all genetic changes are harmful or lead to disease, so the project took a two-pronged approach to identify rare variants and their effects:
- by studying and comparing the DNA of 4,000 people whose physical characteristics are well documented, the project aimed to identify those changes that have no discernible effect and those that may be linked to a particular disease;
- by studying the changes within protein-coding areas of DNA that tell the body how to make proteins of 6,000 people with extreme health problems and comparing them with the first group, the project sought to find only those changes in DNA that are responsible for the particular health problems observed.
The project received a £10.5 million funding award from the Wellcome Trust in March 2010 and sequencing started in late 2010.
The key findings of the project are published in Nature. A series of papers describing resources and application of the data was published at the same time in Bioinformatics and Nature Communications.