title: Human disease genomics: from variants to biology.
abstract: We summarize the remarkable progress that has been made in the identification and functional characterization of DNA sequence variants associated with disease.
authors.affiliation: Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK. mark.mccarthy@drl.ox.ac.uk.|Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. mark.mccarthy@drl.ox.ac.uk.|Oxford NIHR Biomedical Research Centre, Churchill Hospital, Old Road, Headington, Oxford, OX3 7LJ, UK. mark.mccarthy@drl.ox.ac.uk.
authors.forename: Mark I
authors.initials: MI
authors.lastname: McCarthy
authors.affiliation: Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. danmac@broadinstitute.org.|Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA. danmac@broadinstitute.org.
authors.forename: Daniel G
authors.initials: DG
authors.lastname: MacArthur
mesh_terms: D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D023281:Genomics / Q000379:methods*; D006801:Humans