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Human disease genomics: from variants to biology

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

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Bibliographic Details
Published in:Genome Biol
Main Authors: McCarthy, Mark I., MacArthur, Daniel G.
Format: Artigo
Language:Inglês
Published: BioMed Central 2017
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5278570/
https://ncbi.nlm.nih.gov/pubmed/28137298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-017-1160-z
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