Article

A phenome-wide association study of four syndromic genes reveals pleiotropic effects of common and rare variants in the general population

2019-11-02

Abstract excerpt

The clinical evaluation of a genetic syndrome relies upon recognition of a characteristic pattern of signs or symptoms to guide targeted genetic testing for confirmation of the diagnosis. However, individuals displaying a few phenotypes of a complex syndrome may not meet criteria for clinical diagnosis or genetic testing. Here, we present a phenome-wide association study (PheWAS) approach to systematically explore...

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Literature Corpus work: ed14e75e-ec8a-55fc-a03e-2aea7809eca0
DOI: 10.1101/19010736

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