Phenome-wide map of 1.6 million structural variants spans 467,152 UK Biobank genomes
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A phenome-wide association study published in Cell analyzed 1.6 million structural variants in whole-genome sequencing data from 467,152 UK Biobank participants. It detected 28,184 associations with human health outcomes across 13,322 binary traits, 2,018 quantitative traits and 2,923 plasma protein traits. Protein quantitative trait loci analysis linked 3,467 structural variants to 1,690 proteins. Notably, 82.25% of the structural variants fell outside the detectable range of earlier copy-number variant studies, indicating that prior methods missed a large share of this variation and its phenotypic consequences. The map substantially expands the catalogue of structural variants with measurable effects on human health and plasma proteins, providing a resource for interpreting structural variation in disease and trait studies.
Written by a model from the reports · updated 1 day ago
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- CellPickA phenome-wide structural variant map from 467,152 UK Biobank genomes.
A phenome-wide association study of 1.6 million structural variants in whole-genome sequencing data from 467,152 UK Biobank participants detected 28,184 associations with human health outcomes across 13,322 binary, 2,018 quantitative and 2,923 plasma protein traits. Protein quantitative trait loci analysis linked 3,467 SVs to 1,690 proteins, and 82.25% of SVs lay outside the detectable range of prior copy-number variant studies. The work shows structural variants carry phenotypic effects that earlier methods missed.
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