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Nature DOI:10.1038/s41586-019-1879-7

A brief history of human disease genetics.

Publication TypeJournal Article
Year of Publication2020
AuthorsClaussnitzer, M, Cho, JH, Collins, R, Cox, NJ, Dermitzakis, ET, Hurles, ME, Kathiresan, S, Kenny, EE, Lindgren, CM, MacArthur, DG, North, KN, Plon, SE, Rehm, HL, Risch, N, Rotimi, CN, Shendure, J, Soranzo, N, McCarthy, MI
JournalNature
Volume577
Issue7789
Pages179-189
Date Published2020 Jan
ISSN1476-4687
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.

DOI10.1038/s41586-019-1879-7
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/31915397?dopt=Abstract

Alternate JournalNature
PubMed ID31915397