Article
A brief history of human disease genetics.
Nature - 1 Jan 2020
Claussnitzer Melina, Cho Judy H, Collins Rory, Cox Nancy J, Dermitzakis Emmanouil T, Hurles Matthew E, Kathiresan Sekar, Kenny Eimear E, Lindgren Cecilia M, MacArthur Daniel G, North Kathryn N, Plon Sharon E, Rehm Heidi L, Risch Neil, Rotimi Charles N, Shendure Jay, Soranzo Nicole, McCarthy Mark I
Abstract excerpt
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...
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