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McCarthy MI, MacArthur DG. Human disease genomics: from variants to biology. Genome Biol. 2017;18(1):20doi: 10.1186/s13059-017-1160-z.
McCarthy, M. I., & MacArthur, D. G. (2017). Human disease genomics: from variants to biology. Genome biology, 18(1), 20. https://doi.org/10.1186/s13059-017-1160-z
McCarthy, Mark I, and MacArthur, Daniel G. "Human disease genomics: from variants to biology." Genome biology vol. 18,1 (2017): 20. doi: https://doi.org/10.1186/s13059-017-1160-z
McCarthy MI, MacArthur DG. Human disease genomics: from variants to biology. Genome Biol. 2017 Jan 30;18(1):20. doi: 10.1186/s13059-017-1160-z. PMID: 28137298; PMCID: PMC5278570.
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Genome Biol. 2017 Jan 30;18(1):20. doi: 10.1186/s13059-017-1160-z.

Human disease genomics: from variants to biology.

Genome biology

Mark I McCarthy, Daniel G MacArthur

Affiliations

  1. Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK. [email protected].
  2. Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. [email protected].
  3. Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK. [email protected].
  4. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. [email protected].
  5. Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA. [email protected].

PMID: 28137298 PMCID: PMC5278570 DOI: 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.

References

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