McCarthy, Mark I.MacArthur, Daniel2017-03-282017McCarthy, Mark I., and Daniel G. MacArthur. 2017. “Human disease genomics: from variants to biology.” Genome Biology 18 (1): 20. doi:10.1186/s13059-017-1160-z. http://dx.doi.org/10.1186/s13059-017-1160-z.http://nrs.harvard.edu/urn-3:HUL.InstRepos:31731618We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.en-USOther2017-03-2810.1186/s13059-017-1160-z