Analytic and Translational Genetics

Posted: 31 Jul 2020

See all articles by Konrad J. Karczewski

Konrad J. Karczewski

Massachusetts Institute of Technology and Harvard University - Broad Institute

Alicia R. Martin

Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research; Harvard University - Massachusetts General Hospital; Osaka University Graduate School of Medicine

Date Written: July 1, 2020

Abstract

Understanding the influence of genetics on human disease is among the primary goals for biology and medicine. To this end, the direct study of natural human genetic variation has provided valuable insights into human physiology and disease as well as into the origins and migrations of humans. In this review, we discuss the foundations of population genetics, which provide a crucial context to the study of human genes and traits. In particular, genome-wide association studies and similar methods have revealed thousands of genetic loci associated with diseases and traits, providing invaluable information into the biology of these traits. Simultaneously, as the study of rare genetic variation has expanded, so-called human knockouts have elucidated the function of human genes and the therapeutic potential of targeting them.

Suggested Citation

Karczewski, Konrad J. and Martin, Alicia R., Analytic and Translational Genetics (July 1, 2020). Annual Review of Biomedical Data Science, Vol. 3, pp. 217-241, 2020, Available at SSRN: https://ssrn.com/abstract=3658969 or http://dx.doi.org/10.1146/annurev-biodatasci-072018-021148

Konrad J. Karczewski (Contact Author)

Massachusetts Institute of Technology and Harvard University - Broad Institute ( email )

415 Main Street
Cambridge, MA 02142
United States

Alicia R. Martin

Massachusetts Institute of Technology and Harvard University - Stanley Center for Psychiatric Research ( email )

Harvard University - Massachusetts General Hospital ( email )

55 Fruit Street Boston
Boston, MA 02114
United States

Osaka University Graduate School of Medicine

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