Aims & Scope

npj Genomic Medicine is an international, peer-reviewed journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine.

The journal defines genomic medicine as "diagnosis, prognosis, prevention and/or treatment of disease and disorders of the mind and body, using approaches informed or enabled by knowledge of the genome and the molecules it encodes." Relevant and high-impact papers that encompass studies of individuals, families or populations are considered for publication including (but not limited to):

  • integrative phenotype and genome data and analysis, including immunogenomics, pharmacogenomics, microbiomics and system medicine
  • disease-specific polymorphisms
  • disease- and aging-related epigenetics and epigenomics
  • germline and de novo mutations, including point mutations, indels and copy-number alterations
  • data mining and artificial intelligence
  • disease-related alterations to the 3D genome
  • new technologies and informatics
  • clinical recommendations and/or guidelines of how that data should be used in the clinical management of patients
  • clinical studies of utility and outcomes in patients receiving genomic medicine
  • learning healthcare systems related to genomic medicine.