Aims & Scope

npj Genomic Medicine considers research that explores all aspects of genomics and its application in medicine. The studies we publish can be of individual case studies, families, or populations.

The journal covers a broad range of topics 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

The journal offers more choice to Nature Portfolio authors who are seeking a fully open-access and more inclusive platform for publishing their work. The journal is led by genomic medicine experts who collaborate to cultivate high-quality research. As part of the npj Series, this journal focuses on fostering global partnerships with the research community and other Springer Nature journals.