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Aims and scope

Human Genetics is a leading international journal dedicated to publishing high-quality research in all areas of human genetics.
The journal aims to advance our understanding of the genetic basis of human traits, diseases, and their interactions with the environment, as well as the implications of genetic research for clinical practice and public health.
The scope of the journal includes, but is not limited to, the following areas of research:

  • Genome-wide association studies, linkage analysis, and other approaches to identifying genetic variants associated with complex diseases, traits, and drug responses
  • Functional genomics, epigenomics, and transcriptomics to explore the roles of genes and non-coding DNA elements in human biology and disease
  • Population genetics, evolutionary genetics, and genetic diversity in human populations
  • Molecular and cellular mechanisms of genetic diseases, including Mendelian disorders and rare diseases
  • Genetic counseling, ethical, legal, and social issues related to genetics research and clinical practice
  • Advances in genetic technologies, such as genome sequencing, gene editing, and gene therapy, and their potential applications in medicine and agriculture
  • Behavioural genetics
  • Bioinformatics and methods in statistical genetics
  • Developmental genetics

Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology.
Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous variants have already been described, and papers that report meta-analyses of previously published datasets will typically not be prioritized for publication.
The journal publishes original research articles, review articles, brief reports, perspectives, and letters to the editor.
Overall, Human Genetics is committed to fostering scientific excellence and promoting the dissemination of knowledge in human genetics, with the ultimate goal of improving human health and well-being.

Past Editors-in-Chief
Robert L. Nussbaum, University of California, San Francisco, CA, United States of America
Thomas J. Hudson, Abbvie, Chicago, IL, United States of America

Founding Editors
Arno G. Motulsky, University of Washington, Seattle, WA, United States of America (deceased 2018)
Friedrich Vogel, University of Heidelberg, Heidelberg, Germany (deceased 2006)

 

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