A brief history of human disease genetics

Nature
Volume 577 Issue 7789, 9 January 2020
http://www.nature.com/nature/current_issue.html

 

Review Article | 08 January 2020
A brief history of human disease genetics
This Review describes progress in the study of human genetics, in which rapid advances in technology, foundational genomic resources and analytical tools have contributed to the understanding of the mechanisms responsible for many rare and common diseases and to preventative and therapeutic strategies for many of these conditions.
Melina Claussnitzer, Judy H. Cho[…] & Mark I. McCarthy