publication . Article . Other literature type . 2018

Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations

Eric S. Lander; Carolina Roselli; Mary E. Haas; Mark Chaffin; Amit Khera; Krishna G. Aragam; Sekar Kathiresan; Patrick T. Ellinor; Patrick T. Ellinor; Seung Hoan Choi; ...
Open Access English
  • Published: 13 Aug 2018 Journal: Nature genetics, volume 50, issue 9, pages 1,219-1,224 (issn: 1061-4036, eissn: 1546-1718, Copyright policy)
  • Country: United States
Abstract
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 variation 1 . Proposed clinical applications have largely focused on finding carriers of rare monogenic mutations at several-fold increased risk. Although most disease risk is polygenic in nature 2–5 , it has not yet been possible to use polygenic predictors to identify individuals at risk comparable to monogenic mutations. Here, we develop and validate genome-wide polygenic scores for five common di...
Subjects
free text keywords: Article, Disease, Population, education.field_of_study, education, Type 2 diabetes, medicine.disease, medicine, Coronary artery disease, Inflammatory bowel disease, Mutation, medicine.disease_cause, Bioinformatics, Multifactorial Inheritance, Breast cancer, Biology
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