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JAMA Guide to Statistics and Methods
November 5, 2019

Genome-Wide Association Studies

Author Affiliations
  • 1The Institute for Translational Genomics and Population Sciences, Los Angeles Biomedical Research Institute, Department of Pediatrics, Harbor-UCLA Medical Center, Torrance, California
JAMA. 2019;322(17):1705-1706. doi:10.1001/jama.2019.16479

Each individual’s genetic makeup influences the presence of, manifestation of, and susceptibility to disease. The identification of specific genetic regions that influence disease for mendelian genetic conditions, such as cystic fibrosis and Huntington disease, have often been elucidated through familial linkage studies, combining familial patterns of disease with a limited set of genomic markers. In contrast, many diseases have very complex underlying mechanisms with many genes and the environment influencing risk. Understanding the influence of genetics on risk for these diseases requires approaches beyond familial linkage studies.