Publications by authors named "Joe Leader"
Background: Cardiovascular outcomes for people with familial hypercholesterolaemia can be improved with diagnosis and medical management. However, 90% of individuals with familial hypercholesterolaemia remain undiagnosed in the USA. We aimed to accelerate early diagnosis and timely intervention for more than 1·3 million undiagnosed individuals with familial hypercholesterolaemia at high risk for early heart attacks and strokes by applying machine learning to large health-care encounter datasets.
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Article Synopsis
- The DrugBank database includes about 800 well-characterized genes that serve as important drug targets, useful for exploring genetic associations with diseases.
- A novel Gene-based Phenome Wide Association Study (PheWAS) was conducted using whole exome sequencing data from over 38,000 samples to assess how rare genetic variants in these DrugBank genes relate to various health traits.
- The study found multiple new associations primarily linked to functionally annotated variations, highlighting the potential of these genetic variants to inform drug usage and disease understanding.