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.

Article, Brief Communication, Case Report, Comment, Editorial, Matter Arising, Meeting Report, Perspective, Protocol, Review

Editor-in-Chief
Stephen W. Scherer, PhD, DSc, FRSC
Director, The Centre for Applied Genomics
The Hospital for Sick Children and the University of Toronto McLaughlin Centre
Toronto, Canada 
Dr. Scherer holds the GlaxoSmithKline-Canadian Institutes of Health Research Endowed Chair in Genome Sciences at The Hospital for Sick Children (SickKids) and University of Toronto (UofT), and he is Director of the UofT McLaughlin Centre, as well as The Centre for Applied Genomics at SickKids. His research is documented in over 500 scholarly publications, and the Database of Genomic Variants he founded facilitates hundreds of thousands of clinical diagnoses each year. He has won numerous awards and Honorary Degrees, including the Steacie Prize, a Howard Hughes Medical Institute Scholarship and the Premier’s Summit Award for Medical Research. He is a Fellow of the Canadian Institute for Advanced Research, the American Association for the Advancement of Science and the Royal Society of Canada. In 2014, he was selected as a Thomson Reuters Citation Laureate in the field of Physiology or Medicine for “the discovery of large-scale copy number variation and its association with specific diseases.” 
Associate Editors
Mohammed Al-Qahtani, PhD
Executive Director, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia
Prof. Mohammed Al-Qahtani is the Founder and Executive Director of the Center of Excellence in Genomic Medicine Research (CEGMR, since 2007) at King Abdulaziz University (KAU), Jeddah, Saudi Arabia. Prof. Al-Qahtani's research interest lies within the area of the development of molecular cytogenetic based diagnostics for cancer and other diseases. Prof. Al-Qahtani has more than 255 published manuscripts. In 2017, Prof. Al-Qahtani founded a central genetic lab (GenaTi) which offers a wide range of high-quality and cutting-edge genetic laboratory testing and internships. Prof. Al Qahtani is currently deputy vice president of King Abdulaziz University for Research Centers.
Charis Eng, MD, PhD
Hardis/ACS Professor and Chairwoman, Genomic Medicine Institute
Cleveland Clinic
OH, USA
Dr. Eng's laboratory seeks to identify and characterize genes that, when altered, predispose to cancer, using a range of strategies including clinical genetic, integrative omic, in vitro functional interrogation and non-human models. She also seeks to understand modifiers of heritable cancer risk including genomic, epigenomic and metagenomic modifiers. At the clinical interface, she is acknowledged as one of the rare “go to” people on what is and how to implement genetic- and genomics-enabled personalized healthcare.
Pui-Yan Kwok, MD, PhD
Institute of Biomedical Sciences Academia Sinica (Taiwan)
Cardiovascular Research Institute
University of California, San Francisco
CA, USA
Dr. Kwok's research focuses on developing tools and strategies to study the human genome and the role of human variation in common diseases. He developed single molecule strategies for genome mapping and rare genetic disease diagnosis. In addition, he recently launched an effort to bring genetics into clinical practice and implement precision management of common diseases. Dr. Kwok is an Academician of Academia Sinica and the recipient of the 2017 Distinguished Service Award from the University of Chicago Pritzker School of Medicine.
Dennis Lo, MD, PhD
Director, Li Ka Shing Institute of Health Sciences
The Chinese University of Hong Kong
Hong Kong, China


Dr. Lo is a key driver in the field of noninvasive prenatal testing. He discovered the presence of cell-free fetal DNA in maternal plasma, and his group has since remained at the forefront of this field. He has also pioneered a number of diagnostic applications of plasma DNA in other fields. He has received numerous awards, including the US National Academy of Clinical Biochemistry Distinguished Scientist Award (2006), a Croucher Senior Medical Research Fellowship, Sigi Zeiring Award from the American Association of Clinical Chemistry (2007) and Fulbright Distinguished Scholar (2009), among others. 
Stephen F. Kingsmore, MD, DSc
President and CEO
Rady Pediatric Genomics and Systems Medicine Institute
CA, USA
 
TIME magazine ranked Dr. Kingsmore and his team’s 2-day genome diagnosis method for NICU babies one of the top 10 medical breakthroughs of 2012. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. In 2016 and 2018, Dr. Kingsmore became the official title holder of the Guinness World Records® designation for fastest genetic diagnosis, which he accomplished by successfully diagnosing critically ill newborns in 26 and then 19 hours.
Lisa Strug, PhD
Assoc. Director, The Centre for Applied Genomics Senior Scientist
The Hospital for Sick Children
Toronto, Canada
 
In addition to her role at The Centre for Applied Genomics, she is also an Associate Prof.of Biostatistics and Statistical Sciences at the University of Toronto. Prof. Strug’s research interests lie in the fields of statistical genetics and genetic epidemiology. Her statistical work focuses on the development of pure likelihood methods for genetic analysis, methods for the analysis of next generation sequencing data and on methodology tailored to the identification of modifier genes for mendelian disorders. Her research investigates the genetic epidemiology of cystic fibrosis and the neurodevelopmental phenotype of common genetic epilepsies. Dr. Strug's team aims to translate genetic findings to identify therapeutic targets, and to build diagnostic and predictive models for early intervention.
Editorial Board
Dr. Muhammad Abu-Elmagd, PhD
Associate Professor, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia
Dr. Stylianos E. Antonarakis, MD, PhD
Professor Emeritus of Genetic Medicine
University of Geneva Medical School
Geneva, Switzerland
Dr. Mourad Assidi, PhD
Assistant Professor, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia
Dr. Thomas Bourgeron, PhD
Professor, University Paris Diderot
Head, Laboratory of Human Genetics and Cognitive Functions, Department of Neuroscience, Institut Pasteur
Paris, France
Prof. Adeel Chaudhary, PhD
Vice Director, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia

Dr. Brian H.Y. Chung, MD, MSc
Associate Professor, Department of Paediatrics & Adolescent Medicine
LKS Faculty of Medicine
Hong Kong, China
Dr. Robert Davies, PhD
Associate Professor of Statistical and Population Genomics, Department of Statistics
University of Oxford
Oxford, United Kingdom
Prof. Emmanouil (Manolis) T. Dermitzakis, PhD
Professor, Department of Genetic Medicine and Development
University of Geneva Medical School
Geneva, Switzerland
Dr. Khalid A. Fakhro
Director, Human Genetics Department, Sidra Medicine
Assistant Professor of Genetic Medicine, Weill-Cornell Medical College
Ar-Rayyan, Qatar
Dr. Lars Feuk, PhD
Associate Professor, Department of Immunology, Genetics and Pathology (IGP)
Uppsala University
Uppsala, Sweden
Prof. Jozef Gecz, PhD
NH&MRC Principal Research Fellow and Chair for the Prevention of Childhood Disability
The University of Adelaide
North Adelaide, Australia
Dr. David Gurwitz, PhD
Director, NLGIP, Department of Human Molecular Genetics and Biochemistry Sackler Faculty of Medicine
Tel-Aviv University
Tel-Aviv, Israel
Prof. Jonathan Haines, PhD
Professor and Director, Institute of Computational Biology
Case Western Reserve University
Ohio, USA
Prof. Robert A. Hegele, MD, FRCPC, FACP
Director, Blackburn Cardiovascular Genetics Lab and London Regional Genomics Centre
Robarts Research Institute
Ontario, Canada
Prof. Taosheng Huang, MD, PhD
Director, Program of Mitochondrial Medicine; Director, Molecular Diagnostic laboratory
Division of Human Genetics, Cincinnati Children's Hospital Medical Center
Ohio, USA
Prof. Charles Lee, PhD
Scientific Director and Professor
The Jackson Laboratory for Genomic Medicine
Connecticut, USA
Prof. J. Steven Leeder, PharmD, PhD
Director, Division of Clinical Pharmacology, Toxicology and Therapeutic Innovation
Children's Mercy Hospitals
Missouri, USA
Dr. Jeantine E. Lunshof, PhD
Assistant Professor, Department of Genetics
University of Groningen, University Medical Centre Groningen
Groningen, Netherlands

Dr. H. Tayfun Ozcelik, PhD
Dean, Department of Molecular Biology and Genetics
Bilkent University
Ankara, Turkey
Dr. Roger Pique-Regi, PhD
Assistant Professor, Center for Molecular Medicine and Genetics and Department of Obstetrics and Gynecology
Wayne State University
Michigan, USA
Prof. André Reis, M.D.
Director, Institute of Human Genetics
Friedrich-Alexander-Universität Erlangen-Nürnberg
Erlangen, Germany
Dr. Brent Richards, MD, MSc
Associate Professor, Departments of Medicine, Human Genetics, Epidemiology and Biostatistics
McGill University, Montreal
Québec, Canada
Wendy P. Robinson, PhD
Professor, Dept. of Medical Genetics
University of British Columbia
Senior Scientist, BC Children's Hospital Research Institute
Vancouver, Canada
Dr. Charles N. Rotimi, PhD
Director, Center for Research on Genomics and Global Health, NIH
Maryland, USA
Dr. Adam Shlien, PhD
Associate Director, Translational Genetics, Department of Paediatric Laboratory Medicine
The Hospital for Sick Children
Ontario, Canada

Dr. Kristiina Tammimies, PhD
Assistant Professor, Deputy Director of the Center for Neurodevelopmental Disorders, Department of Women's and Children's Health
Karolinska Institutet
Stockholm, Sweden
Prof. Joris Vermeesch, PhD
Department Chair, Head of Laboratory for Cytogenetics and Genome Research 
University of Leuven
Leuven, Belgium
Assistant Editor
Dr. Hin C. Lee, PhD
Program Manager, McLaughlin Centre
University of Toronto
Ontario, Canada
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