Article
The emerging field of polygenic risk scores and perspective for use in clinical care.
Human molecular genetics - 20 Oct 2020
Yanes Tatiane, McInerney-Leo Aideen M, Law Matthew H, Cummings Shelly
Abstract excerpt
Genetic testing is used widely for diagnostic, carrier and predictive testing in monogenic diseases. Until recently, there were no genetic testing options available for multifactorial complex diseases like heart disease, diabetes and cancer. Genome-wide association studies (GWAS) have been invaluable in identifying single-nucleotide polymorphisms (SNPs) associated with increased or decreased risk for hundreds of...
Topics
- Disease
- Genetic Predisposition to Disease
- Genome-Wide Association Study
- Humans
- Multifactorial Inheritance
- Polymorphism, Single Nucleotide
- Risk Assessment
- Risk Factors