Publication: Human disease genomics: from variants to biology
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Date
2017
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BioMed Central
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McCarthy, 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.
Abstract
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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