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Featured Article : Polymorphisms in transcription factor binding sites and enhancer regions and pancreatic ductal adenocarcinoma risk

In this article, the authors investigated the usefulness of functional annotation of GWAS polymorphisms as a strategy to identify additional risk loci for pancreatic ductal adenocarcinoma (PDAC). Their results provide new insights into genetic risk factors for PDAC by a focused analysis of polymorphisms in regulatory regions and demonstrating the usefulness of functional prioritization to identify loci associated with PDAC risk.


  1. Authors: A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson, R. Polimanti, J. Gelernter, X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen…

A Look Back at 20 Years of Human Genomics

Gene Family Update
This collection contains all previously published Gene Family Updates and will continue to include any new Gene Family Updates that publish.


New Approach Methodologies to Address Population Variability and Susceptibility in Human Risk Assessment

Edited by: Helena Hodberg-Durdock, Nicole Kleinstreuer and Kim To

Pharmacogenomics Beyond Single Common Genetic Variants

Edited by: Volker M. Lauschke

Multi-omics approaches to unravel gene-environmental interactions in noncommunicable diseases

Edited by: Tesfaye Mersha and Daniel Enquobahrie

CAGI 6: Critical Assessment of Genome Interpretation, Sixth Edition

Edited by: Soren Brunak, Hannah Carter, John Moult

Personalized Nutrition and Healthy Living from a Genomic Perspective

Edited by: Anagnostis Argiriou and Giuseppe Novelli

Mapping the urban wastewater genome towards the understanding of human infectious disease

Edited by: Despo Fatta-Kassinos, Bernd M. Gawlik and Warish Ahmed


Exposome x Genome

Edited by: Xiaoming Shi and Nikolaos S. Thomaidis


Genetically Manipulated Animal Models for Human Disease

Edited by: Ying Chen, Won Yeong Kang, and Hassane Mchaourab

Genomics of COVID-19: Molecular Mechanisms Going from Susceptibility to Severity of the Disease

Edited by: Giuseppe Novelli and Juergen Reichardt

Artificial Intelligence and Genomics

Edited by: Kirill A. Veselkov, Takashi Gojobori, and David van Dijk


Public Health Genomics

Edited by: George Patronis and Hongyu Zhao


Ethics, Law, and Society in Human Genomics

Edited by: Ruth Chadwick


Translational Genomics

Edited by: Nick M. Makridakis

Exome Sequencing

Edited by: George Patrinos and Chee Seng Ku

HGNC updates

Updates from the HUGO Gene Nomenclature Committee (HGNC) relevant to Human Genomics readers.

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Previous content

Human Genomics launched with BioMed Central in July 2012, transferring from its previous publisher Henry Stewart Publications. All back content is now available in the archive.

Aims and scope

Human Genomics is a peer-reviewed, open access journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics.

Call for Papers: New Approach Methodologies to Address Population Variability and Susceptibility in Human Risk Assessment

Guest Editors:
Helena Hodberg-Durdock: NIH, USA
Nicole Kleinstreuer: NIH, USA
Kim To: Inotiv, USA

This Collection is focusing on the development and use of New Approach Methodologies (NAMs) such as in vitro, in silico and small organism models, that address variability or factors associated with susceptibility to adverse effects of chemical exposure.

Call for Papers: Pharmacogenomics Beyond Single Common Genetic Variants

Guest Editor:
Volker M. Lauschke: Karolinska Institutet, Sweden

In this Collection, we invite original research articles, case reports, meta-analyses, and reviews that focus on associations between genetic variability with drug metabolism, response or toxicity. We particularly welcome reports that identify combinatorial variant effects in cis or trans, epigenetic variations, regulation of gene expression by non-coding RNAs as well as polygenic models for drug response and safety predictions.

Call for Papers: Multi-omics approaches to unravel gene-environmental interactions in noncommunicable diseases

Guest Editors:
Tesfaye B. Mersha, Cincinnati Children’s Hospital Medical Center, University of Cincinnati College of Medicine, USA
Daniel Enquobahrie, University of Washington, USA

The purpose of this Collection is to identify and describe developments, challenges and opportunities related to the integration of environmental exposure data with -omics data in population studies.

Annual Journal Metrics

  • Citation Impact 2023
    Journal Impact Factor: 3.8
    5-year Journal Impact Factor: 4.0
    Source Normalized Impact per Paper (SNIP): 0.875
    SCImago Journal Rank (SJR): 1.199

    Speed 2023
    Submission to first editorial decision (median days): 10
    Submission to acceptance (median days): 91

    Usage 2023
    Downloads: 761,045
    Altmetric mentions: 816