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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 publication

DOI

10.1038/s41586-019-1879-7

Type

Journal article

Journal

Nature

Publication Date

01/2020

Volume

577

Pages

179 - 189

Keywords

Animals, Genetic Testing, Genetic Variation, Genomics, Genotype, Humans, Phenotype, Rare Diseases