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Article

Analysis of 60 706 Exomes Questions the Role of De Novo Variants Previously Implicated in Cardiac Disease.

Circulation. Cardiovascular genetics - 1 Dec 2017

Paludan-Müller Christian, Ahlberg Gustav, Ghouse Jonas, Svendsen Jesper H, Haunsø Stig, Olesen Morten S

Abstract excerpt

BACKGROUND: De novo variants in the exome occur at a rate of 1 per individual per generation, and because of the low reproductive fitness for de novo variants causing severe disease, the likelihood of finding these as standing variations in the general population is low. Therefore, this study sought to evaluate the pathogenicity of de novo variants previously associated with cardiac disease based on a large...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29237690
DOI: 10.1161/CIRCGENETICS.117.001878

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