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

Abstract excerpt

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 test, we examined if missense variants in HHT disease-causing genes may have been misclassified...

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