The ongoing success of GWAS has implications for functional characterization ... investigation of risk SNPs as modifiers of monogenic traits, screens for somatic mutations on marker-containing ...

Background SLE is a systemic autoimmune disease with a large number of common risk gene variants, but several rare gene ...

In contrast, monogenic (mendelian) forms of hypertension are caused by single gene mutations that are influenced little, if at all, by environmental factors. Most monogenic forms of hypertension ...

In a recent study published in Nature Genetics, researchers investigated the association of rare genetic variants with type 2 diabetes, focusing on the variants associated with monogenic diabetes.

PGS and life insurance: Navigating genetic risk assessments Traditionally, genetic testing focused on identifying rare monogenic conditions ... influx of new GWAS data, which may alter PGS-based ...