2024
DOI: 10.1101/2024.10.17.24315475
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Polygenic modifiers of expressivity in telomere biology disorders

Michael Poeschla,
Uma P. Arora,
Amanda Walne
et al.

Abstract: Variable expressivity, where individuals carrying identical genetic variants display diverse phenotypes, presents an important challenge in clinical genetics. This is exemplified by the telomere biology disorders (TBDs), which exhibit tremendous clinical heterogeneity despite their presumed monogenic nature, even among individuals harboring the same pathogenic variant. Here, we studied cohorts of patients with TBDs and population biobanks to demonstrate that common genome-wide polymorphisms associated with var… Show more

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