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 journalReview articlepeer-review

267 Scopus citations


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 languageEnglish
Pages (from-to)179-189
Number of pages11
Issue number7789
StatePublished - 9 Jan 2020


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