Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning

Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores – for example, the Dutch Lipid Score – are often employed as alternative, more accessible, albeit less accurate FH diagnostic tools. To overcome the limitations of these traditional methods and to obtain a more reliable approach to FH diagnosis we implement a “virtual” genetic test using machine-learning approaches.