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Polygenic Modifiers Impact Penetrance And Expressivity In Telomere Biology Disorders

June 2025

polygenic risk score statistical genetics large-scale biobank populations incomplete penetrance variable expressivity manuscript editing

I contributed to the calculation of polygenic risk scores (PRS) in the All of Us Research Program, a newly available, multi-ancestry cohort at the time. In parallel, Michael led the analysis in the UK Biobank, where polygenic scores (PGS) for telomere length were constructed to quantify common variant burden. We assessed the distribution of these scores across patient cohorts and biobanks to determine whether individuals with severe telomere biology disorder (TBD) presentations exhibit increased polygenic burden contributing to short telomeres.

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