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Article

Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.

Nature communications - 20 Aug 2020

Fahed Akl C, Wang Minxian, Homburger Julian R, Patel Aniruddh P, Bick Alexander G, Neben Cynthia L, Lai Carmen, Brockman Deanna, Philippakis Anthony, Ellinor Patrick T, Cassa Christopher A, Lebo Matthew, Ng Kenney, Lander Eric S, Zhou Alicia Y, Kathiresan Sekar, Khera Amit V

Abstract excerpt

Genetic variation can predispose to disease both through (i) monogenic risk variants that disrupt a physiologic pathway with large effect on disease and (ii) polygenic risk that involves many variants of small effect in different pathways. Few studies have explored the interplay between monogenic and polygenic risk. Here, we study 80,928 individuals to examine whether polygenic background can modify penetrance of...

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Identifiers

PMID: 32820175
DOI: 10.1038/s41467-020-17374-3
PMCID: PMC7441381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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