Article: UK Biobank sequences the whole genome of all their 500k participants

[Andy]

"In a momentous landmark for medical research, UK Biobank has today [Thursday 30 November] unveiled incredible new data from whole genome sequencing (1) of its half a million (2) participants. This is set to drive the discovery of new diagnostics, treatments and cures and, uniquely, is available to approved researchers worldwide, via a protected database containing only de-identified data (e.g. name, address, date of birth, name of GP and more stripped out). This abundance of genomic data is unparalleled, but what cements it as a defining moment for the future of healthcare is its use in combination with the existing wealth of data UK Biobank has collected over the past 15 years on lifestyle, whole body imaging scans, health information, and proteins found in the blood.

After five years, more than 350,000 hours of genome sequencing, and over £200 million of investment (3), UK Biobank is releasing the world’s largest-by-far single set of sequencing data, completing the most ambitious project of its kind ever undertaken."

https://www.ukbiobank.ac.uk/learn-m...tments-and-cures-uk-biobank-s-major-milestone

 

[Andy]

Genetic data on 500,000 volunteers in UK to be released for scientific study

"A new era of medical discoveries, treatments and cures is on the horizon, researchers say, following the announcement that an unprecedented trove of genetic information is to be made available to scientists.

Health researchers from around the world can now apply to study the whole genomes of half a million people enrolled in UK Biobank, a biomedical research project that has compiled detailed health and lifestyle records on individuals since it began 20 years ago.

The move on Thursday amounts to the largest number of whole-genome sequences ever released for medical research. The sequences will be used with UK Biobank’s records and other data to delve deeply into the genetics of everything – from people’s risk of obesity, diabetes, heart disease, cancer and other conditions, to individuals’ sleep and exercise patterns."

https://www.theguardian.com/science...ers-in-uk-to-be-released-for-scientific-study

 

[chillier]

Sounds like quite a resource. I wonder if this means that GWAS that have been carried out on the biobank data before can now be redone with all this extra information. Dibble et al 2020 did a nice review of the different GWAS carried out on the UK biobank historically and found they were unable to replicate any findings that were made between them for the disease label 'chronic fatigue syndrome' as defined as being diagnosed by a GP if I recall correctly.

There must be renewed potential in this data now with every single base pair sequenced. I wonder how the statistics would work out now you are looking at billions instead of millions of positions along the genome, which would effectively amount to a ~ 1000x reduction in power. Perhaps you'd need to restrict which bases you choose to look at or do something clever where you pool certain regions together. This is not to mention the potential to look at structural variants and so on. Would be great to hear from a human geneticist about the potential of this data for ME/CFS.