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Article

Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.

European journal of preventive cardiology - 1 Oct 2020

Pina Ana, Helgadottir Saga, Mancina Rosellina Margherita, Pavanello Chiara, Pirazzi Carlo, Montalcini Tiziana, Henriques Roberto, Calabresi Laura, Wiklund Olov, Macedo M Paula, Valenti Luca, Volpe Giovanni, Romeo Stefano

Abstract excerpt

AIMS: 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. The aim of this study is to obtain a more reliable...

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PMID: 32019371
DOI: 10.1177/2047487319898951

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