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Updated: Jan 5, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.

M T Oetjens1, M A Kelly2, A C Sturm2

  • 1Geisinger Health System, Danville, PA, USA. mtoetjens@geisinger.edu.

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|October 27, 2019
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Common genetic variations, measured by polygenic scores (PGSs), significantly influence the severity of rare genetic disorders (RGDs). PGSs can predict clinical variability and aid in risk stratification for individuals with RGDs.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Genomic Medicine

Background:

  • Rare genetic disorders (RGDs) present with significant clinical variability, known as variable expressivity.
  • Polygenic scores (PGSs), which quantify aggregate common genetic variation, are increasingly used for disease risk prediction in the general population.

Purpose of the Study:

  • To investigate the impact of PGSs on the variable expressivity of 11 RGDs.
  • To assess the utility of PGSs for predicting clinical severity and stratifying risk in RGD patients.

Main Methods:

  • Analysis of PGSs across 11 RGDs, including sex-chromosome aneuploidies affecting height, copy-number variant disorders and a Mendelian disease affecting BMI, and Mendelian diseases affecting cholesterol levels.
  • Quantification of the aggregate effect of common genetic variation on RGD phenotypes.

Main Results:

  • Common polygenic factors significantly contribute to the variable expressivity observed in RGDs.
  • PGSs demonstrate potential as a predictive metric for clinical severity in individuals with RGDs.
  • PGSs may aid in risk stratification for RGDs.

Conclusions:

  • Common genetic variation plays a substantial role in the phenotypic variability of rare genetic disorders.
  • Polygenic scores offer a promising tool for predicting disease severity and managing risk in patients with RGDs.