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Human disease genomics: from variants to biology.

McCarthy MI., MacArthur DG.

We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.

Original publication

DOI

10.1186/s13059-017-1160-z

Type

Journal article

Journal

Genome biol

Publication Date

30/01/2017

Volume

18

Keywords

Genetic Predisposition to Disease, Genetic Variation, Genomics, Humans