Rare penetrant mutations confer severe risk of common diseases

Rare penetrant mutations confer severe risk of common diseases

[INTRODUCTION] Genome-wide association studies (GWASs) have identified thousands of common genetic variants that are predictive of common disease susceptibility, but these variants individually have mild effects on disease owing to the effects of natural selection. By contrast, rare genetic variants can have large effects on common disease risk, but their use in genetic risk prediction has been limited to date owing to the difficulty of distinguishing pathogenic from benign variants and estimating the magnitude of their effects.

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Bibliographic Details
Main Authors: Fiziev, Petko P., McRae, Jeremy, Ulirsch, Jacob C., Dron, Jacqueline S., Hamp, Tobias, Yang, Yanshen, Wainschtein, Pierrick, Ni, Zijian, Schraiber, Joshua G., Gao, Hong, Cable, Dylan, Field, Yair, Aguet, Francois, Fasnacht, Marc, Metwally, Ahmed, Rogers, Jeffrey, Marqués-Bonet, Tomàs, Rehm, Heidi L., O'Donnell-Luria, Anne, Khera, Amit V., Kai-How Farh, Kyle
Other Authors: European Research Council
Format: artículo biblioteca
Language:English
Published: American Association for the Advancement of Science 2023-06-02
Online Access:http://hdl.handle.net/10261/348625
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Summary:[INTRODUCTION] Genome-wide association studies (GWASs) have identified thousands of common genetic variants that are predictive of common disease susceptibility, but these variants individually have mild effects on disease owing to the effects of natural selection. By contrast, rare genetic variants can have large effects on common disease risk, but their use in genetic risk prediction has been limited to date owing to the difficulty of distinguishing pathogenic from benign variants and estimating the magnitude of their effects.

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