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Progress in Polygenic Composite Scores in Alzheimer's and Other Complex Diseases
Danai Chasioti1, Jingwen Yan1, Kwangsik Nho1
1Department of BioHealth Informatics, Indiana University-Purdue University, Indianapolis, IN 46202, USA; Indiana Alzheimer Disease Center, Indiana University School of Medicine, Indianapolis, IN 46202, USA; Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
None:
Advances in high-throughput genotyping and next-generation sequencing (NGS) coupled with larger sample sizes brings the realization of precision medicine closer than ever. Polygenic approaches incorporating the aggregate influence of multiple genetic variants can contribute to a better understanding of the genetic architecture of many complex diseases and facilitate patient stratification. This review addresses polygenic concepts, methodological developments, hypotheses, and key issues in study design. Polygenic risk scores (PRSs) have been applied to many complex diseases and here we focus on Alzheimer's disease (AD) as a primary exemplar. This review was designed to serve as a starting point for investigators wishing to use PRSs in their research and those interested in enhancing clinical study designs through enrichment strategies.
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