The world’s largest set of whole genome sequencing data on half a million people is now live???

The UK Biobank has released a treasure trove of genetic data -they’ve completed the 3-billion-letter genome sequence for half a million people!

And the impact will be huge - we’re talking about accuracy and precision in identifying genetic factors associated with specific diseases and developing more personalized and targeted treatment plans.

This started in 2006, gaining momentum with the release of whole genomes from 200,000 Biobank participants in 2021 which included datasets for entire exome sequences (the 2% of the genome that codes for proteins) and completed their mark last month with 500,000 whole genome sequences - this includes responses about their health, medical records, tests of molecular markers, and imaging scans.

The ￡200-million effort was funded by U.K. Research and Innovation and the Wellcome Trust, and biopharma companies - Amgen, AstraZeneca, GSK, and Johnson & Johnson. The sequencing was performed by deCode Genetics (an Amgen subsidiary) and the Wellcome Sanger Institute.

Scientists are looking at this like Google Maps

Rory Collins, the UK Biobank’s chief executive, said at a press briefing

When they want to know what are the pathways from lifestyle, environment, and genetics to disease, they don’t go to Google, they go to UK Biobank.

Whole genomes allow researchers to spot very rare mutations, which tend to have a stronger influence on a trait than do the common variations included in genome-wide data

The idea behind such a bank is to allow researchers to comb through people’s genomes and look for links to different health issues, or find variants that can prove to be protective. They can glean who might benefit from earlier breast cancer screenings or from blood pressure-lowering medications if they’re at high risk for cardiovascular disease. With so many genomes available, scientists can track the impact of rare variants that may play a role in disease, or that could be targets for developing new medicines.

That is already proving to be the case. In a November 20th preprint, a team led by Weedon and Gareth Hawkes, a human geneticist also at Exeter, mined the first 200,000 complete genomes in the UK Biobank data and found 29 rare DNA variants that were implicated in?height differences?as large as 7 centimeters; these variants had not been spotted in previous genetic research.

Democratizing data

To date, over 30,000 researchers from more than 90 countries have registered to use UK Biobank, with over 9,000 peer-reviewed papers published as a result on genes affecting everything from Alzheimer’s risk and heart disease to?personality traits and, controversially, sexual orientation.

Researchers are given the tools and computing power to analyze the de-identified data via UK Biobank’s secure, cloud-based?Research Analysis Platform.

Cheryl Moore, Chief Research Programmes Officer, Wellcome Trust said:

From the sequencing of the genomes themselves through to innovative and secure data storage, the release of this rich dataset marks a significant and impressive moment in scientific research. It’s truly field-opening for understanding the interactions between our genetics, environment and health.

Is the data inclusive of diverse races and ethnicities?

Despite its incomparable size, the general population is mostly?people of European descent: Only about 10,000 participants are of African descent and 10,000 are of South Asian descent.

By comparison, about half of the more than 725,000 participants enrolled in the U.S. National Institutes of Health biobank project,?All of Us, identify with a “racial or ethnic minority group”—though that platform has only released some 250,000 whole-genome sequences and only began accepting applications from international organizations in August.

Pivotal moment for scientific research

The Chair of the Joint Steering Committee, Letizia Goretti, representing Johnson & Johnson Innovation on behalf of the industry consortium parties, Amgen, AstraZeneca, GSK and Johnson & Johnson, said:

We are all incredibly proud of contributing to the creation of the largest whole genome sequencing data set in the world. These data, combined with the extensive lifestyle, biochemical and health outcome data already available, makes the UK Biobank an increasingly powerful resource for understanding the genetic architecture of diseases and accelerating drug discovery and development.

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