Illumina Whole-Genome Sequencing Uncovers Genetic Signals Behind Common Diseases
Reuters
Nov 13, 2025
Illumina Whole-Genome Sequencing Uncovers Genetic Signals Behind Common Diseases
Illumina Inc. has announced new scientific research results published in Nature, demonstrating the significant advantages of whole-genome sequencing $(WGS)$ in capturing the genetic basis of complex human diseases and traits. The study, conducted in collaboration with The University of Queensland, showed that Illumina's WGS, combined with DRAGEN variant calling and advanced AI tools, was able to capture nearly 90% of the genetic signal underlying 34 diseases and traits. This research addresses the longstanding "missing heritability" problem, revealing rare genetic variants that explain much of the heritability previously unaccounted for in common diseases such as those related to blood pressure and cholesterol. The results have already been presented through the publication in Nature.
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