UK10K genome project examines rare variants, disease


Landmark study confirms complexity of the human genome and informs the next stages of medical research

The largest population genome sequencing effort to date is published today in Nature. Based on data collected by the UK10K project, the study was designed to explore the contribution of rare genetic variants to human disease and its impact on risk factors. Rare genetic variants are changes in DNA that are carried only by relatively few people in a population.

Dr. Celia Greenwood, a biostatistician who is a Senior Investigator at the Lady Davis Institute (LDI) at the Jewish General Hospital and Associate Professor at McGill University, served as co-chair of the statistics group and was among the paper’s authors. Dr. Brent Richards, an epidemiologist at the LDI and Associate Professor of Medicine at McGill, co-chaired the cohorts group.

“The UK10K project has made important new contributions towards describing the role of rare genetic variants in a broad range of disease scenarios and human traits.” says Dr. Nicole Soranzo, the corresponding author from Britain’s Wellcome Trust Sanger Institute. “It has shown that the value of sequencing a few thousand individuals is high for highly penetrant, rare diseases, but that for complex traits and diseases much larger sample sizes will be required in future studies. The data and results produced by this project will be instrumental for these future efforts.”

The project studied nearly 10,000 individuals, both healthy and affected by disease. The conditions included very rare disorders inherited in families, and more common diseases such as autism, schizophrenia and obesity. In healthy people, 64 different biomedical risk factors such as blood pressure or cholesterol levels were studied. By characterising the DNA sequence of these individuals, the project gained insight into the contribution of rare variants to a broad range of disease scenarios, and discovered new genetic variants and genes underpinning disease risk.

“The great value of UK10K is in sequencing the genome of a large group from the general population who have been deeply measured for an extensive variety of biomedically relevant traits,” Dr. Greenwood explained. “Sequencing enables us to go deeper into genetic traits and to identify more of the genetic variability contributing to disease, giving us the capacity to identify uncommon variants that have a significant association with common diseases.”

As efforts continue to characterise the genetic underpinnings of complex diseases, the data and results of this study are expected to enable the next wave of discoveries. The UK10K sequence reference panel has been shown to greatly increase the ability to characterise rare variants in large population samples available to the worldwide research community. This resource will enable researchers to ‘fill in’ missing data from lower resolution genotype studies, allowing them to explore full genotypes more quickly and cheaply.

The UK10K Consortium (2015). The UK10K project identifies rare variants in health and disease. Nature.DOI:

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Tod Hoffman
Lady Davis Institute
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