Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

HIGHLIGHTS

• who: Jennifer L. Halford from the (UNIVERSITY) have published the research: Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes, in the Journal: (JOURNAL) of 12/07/2022
• what: Using data from three large studies, the authors demonstrate that population-based associations between rare variants and quantitative endophenotypes for three monogenic diseases (low-density-lipoprotein cholesterol for familial hypercholesterolemia, electrocardiographic QTc interval for long QT syndrome, and glycosylated hemoglobin for maturity-onset diabetes of the young) provide evidence for variant pathogenicity. The authors propose that variant associations with quantitative endophenotypes for monogenic diseases . . .
  

   

  

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