Human disease genomics: from variants to biology

Mark I McCarthy; Daniel G MacArthur

doi:10.1186/s13059-017-1160-z

Human disease genomics: from variants to biology

Genome Biol. 2017 Jan 30;18(1):20. doi: 10.1186/s13059-017-1160-z.

Authors

Mark I McCarthy^{1

2

3}, Daniel G MacArthur^{4

5}

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].

Abstract

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

Publication types

Editorial
Research Support, Non-U.S. Gov't

MeSH terms

Genetic Predisposition to Disease*
Genetic Variation
Genomics / methods*
Humans