Key result
The application of whole-exome sequencing and human genetics can streamline the discovery of causal genetic mutations, such as PCSK9 loss-of-function mutations found in ~2.5% of African Americans.
Design
Review
Authors
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Supports genetic target discovery for lipids; leaves open translation to CHD prevention without prospective validation.
Human genetics, particularly whole-exome sequencing, can identify causal genetic mutations like PCSK9, ANGPTL3, and APOC3 to discover new therapeutic targets for lipid management and CHD prevention.
Jonathan C. Cohen (2016) conducted a review in Hypercholesterolaemia and coronary heart disease. Human genetics and whole-exome sequencing was evaluated. The application of whole-exome sequencing and human genetics can streamline the discovery of causal genetic mutations, such as PCSK9 loss-of-function mutations found in ~2.5% of African Americans.
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