Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and cytogenomics; genome structure and organization; bioinformatics; gene therapy and gene editing; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; pharmacogenetics and -genomics; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues.

  • Human Genetics is a Transformative Journal (TJ). When a paper is accepted for publication, authors can choose to publish using either the traditional publishing route or  immediate gold Open Access (Funding available! Please see: https://www.springer.com/journal/439/open-access-publishing)
  • No publication charges except for special services (open access, paper offprints, e-offprints, posters etc.)
  • Color art is free of charge for print and online publication
  • 95% of authors who answered a survey reported that they would definitely publish or probably publish in the journal again

Journal information

Co-Editors-in-Chief
  • David N. Cooper,
  • Cynthia C Morton
Publishing model
Hybrid (Transformative Journal). Learn about publishing Open Access with us

Journal metrics

4.132 (2020)
Impact factor
5.331 (2020)
Five year impact factor
13 days
Submission to first decision
93 days
Submission to acceptance
489,938 (2020)
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About this journal

Electronic ISSN
1432-1203
Print ISSN
0340-6717
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