Initial results from the largest completed population genome sequencing effort to date have been made available to the global scientific community to boost the search for rare genetic variants that increase the risk of disease.
“We are making all of these data available to the scientific community, which in terms of a resource is a quantum leap,” said Nicole Soranzo, a geneticist at the Wellcome Trust’s Sanger Institute in Cambridge.
Launched in 2010, the UK10K project was set up to study the genetic code of 10,000 people in much finer detail than ever before in order to uncover rare genetic variants, changes in DNA that are carried only by relatively a few people in a population, and how they contribute to human disease and its risk factors.
The project carried out whole genome sequencing at low coverage of 4000 healthy people and has published this information in Nature alongside detailed phenotypic information, a person’s observable clinical features e.g. height, blood pressure.
A further 6,000 partial genomes, including autism and schizophrenia; have been made available to researchers. These genomes just include the exome, the sections of DNA that specify the composition of proteins.
Previous studies have analysed either very rare genetic variants with big effects or common variants, which usually have small effects. The UK10K project has enabled researchers to explore more of the spectrum of variation between the very rare and the common ones, according to Richard Durbin, senior UK10K researcher at the Sanger Institute.
A key finding of the project was 24 million new genetic variants from healthy Europeans, which reflects the genetic diversity of the population.
Already the genomes released from the UK10K project have been used by scientists at McGill University in Montreal to uncover a genetic variant near the gene EN1 as being linked to osteoporosis in humans.
Sorenzo said: “The value of this data is really empowering next generation of genetic studies.”
Despite the project proving the value of reading the genomes of several thousand people for some diseases, Sorenzo highlighted that for complex medical conditions much larger numbers of people need to have their genomes sequenced – hence initiatives such as the UK 100,000 Genomes Project and the US Million Veteran Program.