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The discovery of 500,000 complete genomes could change the understanding of inherited diseases.
The UK Biobank has released the complete genomic sequences of all 500,000 UK volunteers stored in its database. This data, which contains no identifiable details, is now available to researchers from around the world who want to study the genetic basis of health and disease.
Rory Collins, chief executive of UK Biobank, compared this resource to Google Maps at a press briefing: "When scientists want to understand the pathways from lifestyle, environment, genetics to disease, they turn to UK Biobank, not Google."
Today's release includes the full 3-billionth genomic sequence of each biobank member. Earlier in 2021, the full genomes of 200,000 participants were released. The £200 million (about $250 million) project was funded by the Wellcome Trust, the UK government and several pharmaceutical companies. They, in turn, got access to the data 9 months earlier than the general public.
Previously, the UK Biobank database included complete "exomes" — 2% of the genome encoding proteins, as well as 850,000 common single-letter DNA variants distributed across the genome. This data has been used in health-related genome studies.
Scientists are paying particular attention to rare mutations, which, according to Michael Whedon, a geneticist at the University of Exeter, can provide a deeper understanding of biology. For example, in a study of preliminary data from the first 200,000 genomes, Whedon's team found 29 rare DNA variants associated with differences in height up to 7 cm that had not previously been identified.
In the long run, a comprehensive study of the links between rare genetic variants and health will require more than half a million complete genomes. Also, international projects such as All About Us in the US, which plans to release genomic and medical data from more than a million people, will be useful to confirm the links identified using UK Biobank data.
Andrea Ganna, a statistical geneticist at the University of Helsinki, expressed doubts about the effectiveness of using complete genomes, noting that many non-coding variants identified in the studies are close to those already known through GWAS. However, complete genomic sequences can help determine more precisely the links between diseases and structural variations in DNA.
UK Biobank has already led to more than 9,000 publications, and the real impact of the latest release may not become clear until some time later, as Collins noted: "I think we will be surprised by how many new things we will learn that we did not even imagine."
The UK Biobank has released the complete genomic sequences of all 500,000 UK volunteers stored in its database. This data, which contains no identifiable details, is now available to researchers from around the world who want to study the genetic basis of health and disease.
Rory Collins, chief executive of UK Biobank, compared this resource to Google Maps at a press briefing: "When scientists want to understand the pathways from lifestyle, environment, genetics to disease, they turn to UK Biobank, not Google."
Today's release includes the full 3-billionth genomic sequence of each biobank member. Earlier in 2021, the full genomes of 200,000 participants were released. The £200 million (about $250 million) project was funded by the Wellcome Trust, the UK government and several pharmaceutical companies. They, in turn, got access to the data 9 months earlier than the general public.
Previously, the UK Biobank database included complete "exomes" — 2% of the genome encoding proteins, as well as 850,000 common single-letter DNA variants distributed across the genome. This data has been used in health-related genome studies.
Scientists are paying particular attention to rare mutations, which, according to Michael Whedon, a geneticist at the University of Exeter, can provide a deeper understanding of biology. For example, in a study of preliminary data from the first 200,000 genomes, Whedon's team found 29 rare DNA variants associated with differences in height up to 7 cm that had not previously been identified.
In the long run, a comprehensive study of the links between rare genetic variants and health will require more than half a million complete genomes. Also, international projects such as All About Us in the US, which plans to release genomic and medical data from more than a million people, will be useful to confirm the links identified using UK Biobank data.
Andrea Ganna, a statistical geneticist at the University of Helsinki, expressed doubts about the effectiveness of using complete genomes, noting that many non-coding variants identified in the studies are close to those already known through GWAS. However, complete genomic sequences can help determine more precisely the links between diseases and structural variations in DNA.
UK Biobank has already led to more than 9,000 publications, and the real impact of the latest release may not become clear until some time later, as Collins noted: "I think we will be surprised by how many new things we will learn that we did not even imagine."
