Journal Information

On this page: Aims and scope of journal | Our publishing models | Impact Factor | Abstracted/indexed in | ISSN and eISSN | Newsfeeds

Aims and scope of journal

The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy.

Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.

  • Medical genetics
  • Human genome analysis
  • Gene cloning and mapping
  • Linkage and association analyses
  • Rare variants in diseases and phenotypes
  • Mutational analysis
  • Susceptibility genes to multifactorial disorders
  • Human evolution
  • Cancer genetics
  • Gene therapy
  • Genetic and functional analysis of animal models of disease or behaviour
  • Genetic polymorphisms of biologically important genes
  • Novel mutations found in patients with hereditary diseases
  • Novel mutations found in cancer cells
  • Population genetics
  • Human diseases with epigenetic or chromatin dysregulation
  • Human epigenome analysis
  • Noncoding RNAs
  • Developmental Origins of Health and Disease
  • Prenatal diagnosis
  • Molecular cytogenetics and genomic structural variation

Our publishing models   

Journal of Human Genetics is a Transformative Journal (TJ). When research is accepted for publication, authors can choose to publish using either the traditional publishing route OR via immediate gold Open Access. 

Journal of Human Genetics is actively committed to becoming a fully Open Access journal. We will increase the number of articles we publish OA, with the eventual goal of becoming a fully Open Access journal. A journal that commits to this process is known as a Transformative Journal. 

Find out more about Transformative Journals

Authors may need to take specific actions to achieve compliance with funder and institutional open access mandates. If your research is supported by a funder that requires immediate open access (e.g. according to Plan S principles) then you should select the gold OA route, and we will direct you to the compliant route where possible. For authors selecting the subscription publication route our standard licensing terms will need to be accepted including our self-archiving policies. Those standard licensing terms will supersede any other terms that the author or any third party may assert apply to any version of the manuscript.

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 2020 journal citation metrics for Journal of Human Genetics are as follows:

2-year Impact Factor*: 3.172
5-year Impact Factor*: 3.239
Immediacy index*: 1.086
Eigenfactor® score*: 0.00685
Article influence score*: 0.948
Journal Citation Indicator*: 0.77

SNIP: 1.109
SJR: 1.055

*2020 Journal Citation Reports® Science Edition (Clarivate Analytics, 2021)

Impact factor

2020 Impact Factor 3.172*

92/175 Genetics & Heredity

*2020 Journal Citation Reports® Science Edition (Clarivate Analytics, 2021)


Submission to first decision (2019): 16 days
Submission to Acceptance (2019): 104 days
Acceptance to online publication­­­ (2019): 17 days


420,423  Downloads (in 2019)

Abstracted/indexed in

  • Medline
  • Current Contents/Life Sciences
  • Science Citation Index
  • Science Citation Index Expanded
  • Journal Citation Reports/Science Edition
  • BIOSIS Previews
  • Scopus
  • EBSCO Discovery Service
  • Google Scholar
  • OCLC
  • Summon by Proquest
  • EBSCO Academic Search
  • EBSCO Advanced Placement Source
  • EBSCO Biomedical reference collection


The international standard serial number (ISSN) for The Journal of Human Genetics is 1434-5161, and the electronic international standard serial number (eISSN) is 1435-232X.


The Journal of Human Genetics now provides its latest table of contents as an RSS web  feed. This allows users with an RSS reader to receive automatic updates whenever new content is added to these pages.

Receive Journal of Human Genetics's current issue table of contents.

Receive Journal of Human Genetics's AOP table of contents.

Find out more about RSS feeds, how to download an RSS reader and see all the news feeds offered by Springer Nature.