Article
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Nature genetics - 1 Sept 2018
Khera Amit V, Chaffin Mark, Aragam Krishna G, Haas Mary E, Roselli Carolina, Choi Seung Hoan, Natarajan Pradeep, Lander Eric S, Lubitz Steven A, Ellinor Patrick T, Kathiresan Sekar
Abstract excerpt
A key public health need is to identify individuals at high risk for a given disease to enable enhanced screening or preventive therapies. Because most common diseases have a genetic component, one important approach is to stratify individuals based on inherited DNA variation1. Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk....
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