Human disease genomics: From variants to biology

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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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McCarthy, M. I., & MacArthur, D. G. (2017, January 30). Human disease genomics: From variants to biology. Genome Biology. BioMed Central Ltd. https://doi.org/10.1186/s13059-017-1160-z

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