UK10K project to sequence genomes of 10,000 people in UK
30 June 2010
The Wellcome Trust has launched a multi-million pound project
to decode the genomes of 10,000 people in the UK over the next three
years. This will be one of the largest genome-sequencing programmes ever
undertaken and will analyse the genomes of one in 6000 people in the UK.
The UK10K project is expected to uncover many rare genetic
variants that are important in human disease, giving a much deeper
picture of genetics that can be applied to other studies, both in
the UK and around the world.
It is being funded through a £10.5 million Strategic Award to the
Wellcome Trust Sanger Institute in collaboration with clinical
researchers from around the UK, using samples and cohort data
collected over many years.
There are two components to the project:
- the genomes of 4000 people, who have each been studied
for many diseases and traits over many years, will be completely
- the gene-containing regions of the genomes of 6000 people
with extreme obesity, neurodevelopmental disease and other
conditions will also be studied.
"Although genetics over the past five years has yielded a rich
harvest of hundreds of variants associated with disease, much more
remains to be discovered," says Dr Richard Durbin, principal
investigator on the project, from the Wellcome Trust Sanger
Institute. "With this award, we are seizing the chance to use
technological advances in DNA sequencing to find variants that have
even greater consequence for health."
The 4000 whole genomes will be from two important groups of
people who have been studied for many years — the TwinsUK and ALSPAC
(Avon Longitudinal Study of Parents and Children — also known as
Children of the 90s) studies.
The first includes 11,000 twins born in the UK, some of whom have
taken part in studies for more than 18 years. ALSPAC includes more
than 9000 people originally from Avon in south-west England,
followed from birth in 1991-92. The data for each group includes
extensive descriptions of their health and their development.
Studying this large group will help researchers build a
near-complete catalogue of genetic variation in these 4000 people.
The depth of information recorded from them will provide a real
opportunity to tie genetic variants to measured health-related
differences between individuals. This should help identify the few
thousand genetic variants — among the 3 million each of us carries —
that are important in disease.
The information gathered from these 4000 will be strengthened by
the second component of 6000 people, recruited by clinicians, who
have a severe condition thought to have a genetic cause. These
include severe obesity, autism, schizophrenia and congenital heart
disease. The gene-containing regions of these people's genomes —
known as 'exomes' — which are likely to include the genetic variants
important in their condition, will be analysed using new methods
based in part on cutting-edge techniques developed at the Wellcome
Trust Sanger Institute.
"We are fortunate in the UK to have such excellent collections of
clinical samples provided by volunteers to help research and to help
others," says Professor Tim Spector, who leads the TwinsUK study at
King's College London. "10,000 volunteers have contributed to this,
the largest genome-sequencing project so far undertaken. It's a
stunning commentary on the generosity of participants in UK
The researchers point out that the results will have their most
immediate impact in genetics, contributing to an ongoing
transformation of our understanding of human genetic variation. In
some cases this may have direct clinical relevance. But more often
it will lead to advances in our understanding of disease biology,
which should, in time, reach through to medical applications.
UK10K starts exactly ten years after the draft of the first human
reference genome was announced by the Human Genome Project.
Sir Mark Walport, Director of the Wellcome Trust, says: "The pace
of technological change is extraordinary. We can now study the
genome sequences of 10,000 people in three years. Just a decade ago
it took much more time and money to decode just a single sequence.
The involvement of clinicians, researchers and, most importantly,
the thousands of people who have donated DNA samples, will help us
to correlate genetic variation with individual variation in health
and disease, and help to deliver on the long-term promise of the
Human Genome Project."
The UK10K project was co-developed by Professor Leena Peltonen,
former head of Human Genetics at the Wellcome Trust Sanger
Institute. Professor Peltonen passed away on 11 March 2010 at her
home in Finland after a long battle with cancer.
Dr Durbin says: "This project was co-developed by the amazingly
energetic and inspiring Professor Leena Peltonen, who sadly died
three months ago. I know Leena saw this project as a major
opportunity to translate genomics to medical relevance, and we are
excited about the opportunity to deliver a project of which she
would be proud."