A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

ABSTRACT: 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 single phenotype 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 the phenotypic expressivity of common and rare alleles in genes associated with four well-described syndromic diseases (Alagille (AS), Marfan (MS), DiGeorge (DS), and Noonan (NS) syndromes) in the general population. Using human phenotype ontology (HPO) terms, we systematically mapped 60 phenotypes related to AS, MS, DS and NS in 337,198 unrelated white British from the UK Biob

SUBMITTER: Tcheandjieu C 

PROVIDER: S-EPMC7735621 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature