Recently, UK Biobank unveiled incredible new data from whole genome sequencing of its half a million participants, which is almost 0.7% of its population.
Key points
Such data-sets are transformative, with far-reaching implications for both immediate and long-term advancements in the biological sciences.
An early effort to use large-scale population genetic studies was initiated in Iceland by deCODE genomics in 1996.
The deCODE effort considerably improved our understanding of the genetics of diseases and the utility of such data in risk assessment.
The UK’s ‘100K Genome’ project aimed to bring genomics into routine healthcare. A recent initiative by the pharmaceutical companies has planned to sequence more than five lakh individuals of African ancestry through the Diversity Human Genome Initiative.
The AllofUS programme in the U.S. will collect genetic information of a million people with funding from the National Institutes of Health.
The European Union has launched ‘1+ Million Genomes’ initiative.
A pilot programme for population genomes in India named IndiGen provided an early view of more than a thousand genomes of individuals from cosmopolitan areas in India.
Population-scale genome benefits
Population-scale genome efforts take advantage of a unique population composition to understand disease prevalence and biomarkers for diseases, and use that to inform the discovery of novel therapeutic targets.
Other efforts seek to build scalable public-health initiatives where genomic data is used in decision-making and medical care.
Other Benefits of whole genome sequencing: More targeted drug discovery and development, Discovering thousands of disease-causing non-coding genetic variants, Accelerating precision medicine, Understanding the biological underpinnings of disease.
