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Pharmacogenomics Beyond Single Common Genetic Variants

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

Submission Status: Open   |   Submission Deadline: 1 June 2024


Human Genomics is calling for submissions to our Collection on "Pharmacogenomics Beyond Single Common Genetic Variants".



Image credit: [M] Artur / stock.adobe.com

About the collection

Research over the past 50 years has demonstrated that interindividual variability in genes encoding drug metabolizing enzymes, transporters, receptors and HLA antigens influences a patient’s susceptibility to adverse drug reactions as well as the probability of pharmacological treatment success. Since then, the field of pharmacogenomics has developed rapidly fuelled by major advances in omics profiling methods, big data analytics and biobank initiatives. These developments are paralleled by major advances in machine learning that enable to parse this immense wealth of data and identify novel complex associations with genetic factors that may guide drug selection and dosing. While most genetic associations were identified between individual single nucleotide variations (SNVs) and drug-related phenotypes, recent research started to unravel effects beyond single variations.

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. Pharmacogenetic and -genomic studies of both the germline and somatic genome will be considered. The Collection is furthermore open to implementation studies that demonstrate feasibility or outcomes of point-of-care genetic profiling.

  1. Despite a growing number of publications highlighting the potential impact on the therapy outcome, rare genetic variants (minor allele frequency < 1%) in genes associated to drug adsorption, distribution, meta...

    Authors: Elena De Mattia, Jerry Polesel, Marco Silvestri, Rossana Roncato, Lucia Scarabel, Stefano Calza, Michele Spina, Fabio Puglisi, Giuseppe Toffoli and Erika Cecchin
    Citation: Human Genomics 2023 17:99

Submission Guidelines

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Before submitting a manuscript, please read our submission guidelines. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Pharmacogenomics Beyond Single Common Genetic Variants" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.