Adriana Macko

Translating evolutionary history and protein-focused machine learning supports increased prevalence of hereditary haemorrhagic telangiectasia, one of the most common inherited disorders.

BACKGROUND Recent genetic data suggest hereditary haemorrhagic telangiectasia (HHT) is 2-12 times more common than the clinically-ascertained prevalence, potentially above the 'rare disease' designation threshold, and undermining clinical predictions for asymptomatic individuals diagnosed by genetic testing. AIM To t...