期刊名称：NPJ GENOMIC MEDICINE
 期刊简介(About the journal)
投稿须知(Instructions to Authors)
编辑部信息(Editorial Board)
About the journal
A new open access, online-only journal dedicated to publishing the most important scientific advances in all aspects of genomics and its application in the practice of medicine.
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
The journal publishes original research Articles, Brief Communications, Commentaries, Perspectives and Review Articles.
Article and journal metrics
Article metrics such as number of downloads, citations and online attention are available from each article page, and provide an overview of the attention received by a paper.
The 2017 journal metrics for npj Genomic Medicine are as follows:
For a further description of these metrics and a summary of the metrics for all Nature journals, please visit our journal metrics page. More information underlying our approach to journal metrics may be found here.
Abstracting and indexing
npj Genomic Medicine is currently indexed in Scopus, PubMed Central, PubMed, Science Citation Index Expanded (SCI-E), and the Directory of Open Access Journals (DOAJ). The journal will apply for inclusion in MEDLINE when appropriate. Pending review and acceptance, all published articles will be indexed retrospectively. We will update the journal site to keep authors and readers informed as to which databases the journal is indexed within.
Instructions to Authors
For Authors & Referees
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.
To publish in the journal, please go to the online submission system.
View our guide to authors for detailed information on editorial criteria, and how manuscripts are handled by our editors between submission and acceptance for publication.
Articles published in npj Genomic Medicine are open access, allowing for the widest dissemination, visibility, and impact of your research – visit the benefits to authors page to explore the reasons why you should publish with the journal.
Instructions to Authors
npjgenmed-gta.pdf
Editorial Board
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. Stephen Scherer is a renowned scientist whose research has transformed the understanding of human genetic variation and its role in disorders such as autism. He collaborated with Craig Venter's team to decode human chromosome 7 and to generate the first genome sequence of an individual, work which has been cited more than 20,000 times. Together with Prof. Lap-chee Tsui, they founded Canada’s first human genome center, TCAG at The Hospital for Sick Children. Prof. Scherer founded the Database of Genomic Variants used by clinical diagnostic laboratories worldwide.
Associate Editors
 Mohammed Al-Qahtani, PhD
Executive Director
Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia
After obtaining his PhD from the institute of cancer studies, Clinical Oncology Department, the Medical School, University of Sheffield, UK in 1999, Prof. Al-Qahtani carried out studies in this field, and published more than 45 peer-reviewed international articles in addition to giving lectures and talks at international conferences. Prof. Al-Qahtani holds a number of academic positions including a consultant for King Abdulaziz City for Science and Technology (2002-present), Deputy Director of King Fahd Medical Research Centre (2002-2006), and a head of the Medical Biology Department, College of Medicine (2005-2007).
 Stylianos E. Antonarakis, MD, PhD
Director of the Department of Genetic Medicine
University of Geneva
Geneva, Switzerland
Stylianos Antonarakis has 35 years of experience in Genetic Medicine, first at The Johns Hopkins University in Baltimore and subsequently in Geneva. His long term research theme is the link between the genetic and phenotypic variability. He has contributed to the understanding of the molecular basis of Mendelian disorders, Complex phenotypes, and chromosomal syndromes such as Trisomy 21. He was the past President of the European Society of Human Genetics and is currently the President of HUGO (Human Genome Organization). He has recently created “The Genome Clinic” in Geneva that provides diagnostic services by using high throughput sequencing.
 Charis Eng, MD, PhD
Director, Center for Personalized Genetic Healthcare
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.
 Charles Lee, PhD
Scientific Director and Professor
The Jackson Laboratory for Genomic Medicine
CT, USA
Prof Charles Lee is a world-renowned scientist best known for his discovery that copy-number variation - a state in which cells have an abnormal number of copies of DNA sections, sometimes associated with susceptibility of resistance to disease - is widespread and significant in the human genome. This discovery, and his subsequent research, has provided the tools that clinicians around the world use to help them make accurate diagnoses for genetic testing of conditions such as autism, birth defects and cancer. Dr. Lee's laboratory develops and applies state-of-the-art technologies to study structural genomic variation and its contribution to human diseases, and vertebrate genome evolution.
 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, M.D., D.Sc
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, 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 just 26 hours.
 Lisa Strug, PhD
Associate Director, The Centre for Applied Genomics
The Hospital for Sick Children and the University of Toronto
Toronto, Canada
Prof. Strug’s research interests lie in statistical genetics, genetic epidemiology, evidential statistics, Cystic Fibrosis, Rolandic Epilepsy, and Neurodevelopmental Disorders. In addition to being Associate Director at TCAG, she is also Co-Director of the Statistics Analysis Facility. At the Strug Lab, her team develops novel statistical methodology to unravel the complex underpinnings of genetic disease. They focus on the identification of genetic modifiers in Mendelian disease such as Cystic Fibrosis, and on identifying genetic contributors to neurodevelopmental correlates of childhood onset Epilepsy. Dr. Strug's team aims to translate genetic findings to identify therapeutic targets, and to build diagnostic and predictive models for early intervention.
Assistant Editor
Dr. Hin C. Lee, PhD
Program Manager, McLaughlin Centre
University of Toronto
Ontario, Canada
Editorial Board Members
Dr. Muhammad Abu-Elmagd, PhD
Associate Professor, Center of Excellence in Genomic Medicine Research
King Abdulaziz University
Jeddah, Saudi Arabia
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
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
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, Ph.D.
Director, Program of Mitochondrial Medicine; Director, Molecular Diagnostic laboratory
Division of Human Genetics, Cincinnati Children's Hospital Medical Center
Ohio, 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
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
Prof. Joris Vermeesch, PhD
Department Chair, Head of Laboratory for Cytogenetics and Genome Research
University of Leuven
Leuven, Belgium
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