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Abstract
This work is published and available within Brown et al. (2020). Our work evaluates the relationship between telomere length and the presence of clonal somatic copy number alterations (SCNAs). We inferred telomere length for 431,501 subjects within the UK Biobank using a polygenic risk score (PRS) of variants previously associated with leukocyte telomere length. Genotyping array data were also acquired and used to detect SCNAs in the same population. Overall, we demonstrated a positive association between the telomere length PRS and the presence of autosomal SCNAs. The SCNAs call set (as detailed within Loh et al. (2020)) has also been returned to UK Biobank (as Return 2062) to enable individual-level linkage to approved UK Biobank applications. This research was conducted under the UK Biobank applications 19808 and 21552.
Detection of large-scale copy-number and copy-neutral mosaic alterations in circulating leukocyte DNA of UK Biobank cancer cases and cancer-free controls