Inside Precision Medicine August 7, 2025
Nearly 500,000 participants in the UK Biobank have had their whole-genome sequencing (WGS) data added, making it one of the biggest continuing population-based studies. About 1.5 billion variants—including single nucleotide polymorphisms (SNPs), insertion-deletion (indel) variants, and structural variants (SVs)—have been found in participants of the population-based study. Many of these variants are linked to various disease features and traits and could enable a deeper understanding of disease mechanisms, including those that affect disease risk through non-coding mechanisms.
New dimension of data
The contribution of rare non-coding variation to human diseases and other complex traits has been well-documented. However, research into this area is still in its infancy due to the enormous amounts of data needed from various modalities. Before this...
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