The UK Biobank has completed whole-genome sequencing for 490,640 participants, revealing about 1.5 billion variants. This dataset surpasses previous methodologies such as genotyping and whole-exome sequencing in the discovery of human genetic variation. Whole-genome sequencing has the potential to uncover rare non-coding variations that may influence disease risk and complex traits, which have been understudied. The resource provides valuable insights into genetics, paving the way for advancements in drug discovery and disease characterization.
Whole-genome sequencing in 490,640 UK Biobank participants has enabled the discovery of approximately 1.5 billion genetic variants, vastly surpassing previous technologies in observed variation.
The large-scale WGS dataset enhances understanding of rare non-coding genetic variations that may contribute to human diseases and complex traits, expanding potential avenues for research.
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