A brief history of human disease genetics

Melina Claussnitzer; Judy H. Cho; Rory Collins; Nancy J. Cox; Emmanouil T. Dermitzakis; Matthew E. Hurles; Sekar Kathiresan; Eimear E. Kenny; Cecilia M. Lindgren; Daniel G. MacArthur; Kathryn N. North; Sharon E. Plon; Heidi L. Rehm; Neil Risch; Charles N. Rotimi; Jay Shendure; Nicole Soranzo; Mark I. McCarthy

doi:10.1038/s41586-019-1879-7

A brief history of human disease genetics

Melina Claussnitzer, Judy H. Cho, Rory Collins, Nancy J. Cox, Emmanouil T. Dermitzakis, Matthew E. Hurles, Sekar Kathiresan, Eimear E. Kenny, Cecilia M. Lindgren, Daniel G. MacArthur, Kathryn N. North, Sharon E. Plon, Heidi L. Rehm, Neil Risch, Charles N. Rotimi, Jay Shendure, Nicole Soranzo, Mark I. McCarthy

Research output: Contribution to journal › Review article › peer-review

396 Scopus citations

Abstract

A primary goal of human genetics is to identify DNA sequence variants that influence biomedical traits, particularly those related to the onset and progression of human disease. Over the past 25 years, progress in realizing this objective has been transformed by advances in technology, foundational genomic resources and analytical tools, and by access to vast amounts of genotype and phenotype data. Genetic discoveries have substantially improved our understanding of the mechanisms responsible for many rare and common diseases and driven development of novel preventative and therapeutic strategies. Medical innovation will increasingly focus on delivering care tailored to individual patterns of genetic predisposition.

Original language	English
Pages (from-to)	179-189
Number of pages	11
Journal	Nature
Volume	577
Issue number	7789
DOIs	https://doi.org/10.1038/s41586-019-1879-7
State	Published - 9 Jan 2020

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Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., North, K. N., Plon, S. E., Rehm, H. L., Risch, N., Rotimi, C. N., Shendure, J., Soranzo, N., & McCarthy, M. I. (2020). A brief history of human disease genetics. Nature, 577(7789), 179-189. https://doi.org/10.1038/s41586-019-1879-7

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author = "Melina Claussnitzer and Cho, {Judy H.} and Rory Collins and Cox, {Nancy J.} and Dermitzakis, {Emmanouil T.} and Hurles, {Matthew E.} and Sekar Kathiresan and Kenny, {Eimear E.} and Lindgren, {Cecilia M.} and MacArthur, {Daniel G.} and North, {Kathryn N.} and Plon, {Sharon E.} and Rehm, {Heidi L.} and Neil Risch and Rotimi, {Charles N.} and Jay Shendure and Nicole Soranzo and McCarthy, {Mark I.}",

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A brief history of human disease genetics

Abstract

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