HG

Human Genetics

Human Genetics focuses on publishing timely articles covering all aspects of human genetics, including gene structure and organization, genetic epidemiology, and ethical, legal, and social issues. The journal offers fast editorial turnaround times and an efficient publication process, with authors able to publish through the traditional route or immediate gold Open Access.

Looking to publish in Human Genetics? Livewrite integrates seamlessly with Word to help you write, edit, and format faster.

Existing customer login
Impact Factor 3.6
Quartile Q2
Open Access Type Hybrid
ISSN 0340-6717
eISSN 1432-1203
Invitation Only No
Cost Range Open access publication requires an APC of £3790.00 GBP / $5690.00 USD / €4590.00 EUR; subscription publishing has no APC charges.

Submission Instructions

Human Genetics accepts the following article types. Click on an article type to view submission instructions.

Research Articles

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. Abstracts must be 150 to 250 words.
Manuscript A Statements and Declarations section must appear after the References section and include funding, conflicts of interest or competing interests, ethics approval, consent, data and/or code availability, and authors’ contribution statements as applicable, and the use of a large language model must be documented in the Methods section or another suitable part of the manuscript if no Methods section is available.
References References must be cited in the text by name and year in parentheses. Appropriate and relevant literature must be cited in support of the claims made.
Figures & Tables All tables must be numbered using Arabic numerals.
Reformat to Human Genetics using Livewrite Premium

Review

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. Abstract must be 150 to 250 words.
Manuscript Review articles must include a statement identifying who had the idea for the article, who performed the literature search and data analysis, and who drafted and/or critically revised the work. Review articles must include a statement of responsibility specifying the contribution of every author and a disclosure statement.
References Citations in the text must use name-and-year style in parentheses. Review articles must cite appropriate and relevant literature in support of the claims made.
Figures & Tables Tables must be numbered using Arabic numerals.
Reformat to Human Genetics using Livewrite Premium

Brief Report

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. The abstract must be up to 80 words. The abstract must be unstructured.
Manuscript The manuscript must be no longer than 500 words.
References The manuscript must contain no more than six references. Cite references by name and year in parentheses.
Figures & Tables The manuscript must contain no more than one table and no more than one figure.
Reformat to Human Genetics using Livewrite Premium

Correspondence

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. The abstract must be 150 to 250 words.
Manuscript Submitted manuscripts must include a section headed "Statements and Declarations" after the References section, including Funding, Conflicts of interest/competing interests, Ethics approval, Consent, Data and/or Code availability, and Authors’ contribution statements as applicable.
References References should be cited in the text by name and year in parentheses.
Figures & Tables All tables must be numbered using Arabic numerals.
Reformat to Human Genetics using Livewrite Premium

Perspective

Cover Letter Cover Letter requirements are not specified.
Abstract An abstract is required. Abstract must be 150 to 250 words.
Manuscript null
References References must be cited in the text by name and year in parentheses.
Figures & Tables All tables must be numbered using Arabic numerals.
Reformat to Human Genetics using Livewrite Premium

Recent Publications

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome

Haley McConkey, Liselot van der Laan, Sourav Ghosh, Lotte Kleinendorst, Michael A. Levy, Jessica Rzasa, Johanna M. van Hagen, Quinten Waisfisz, Heidi L. Schulz, Corina Heller, Kerstin Huhn, Carolin D. Obermaier, Konrad Platzer, Rami Abou Jamra, Nikos Marinakis, Danai Veltra, Konstantina Kosma, Christalena Sofocleous, Peter Henneman, Bekim Sadikovic, Mieke M. van Haelst

10.1007/s00439-026-02846-1
View Publication

Identification of a novel isoform of Slc26a4 by single-cell RNA-sequencing of pendrin-expressing cells in the cochlea

Jin-Young Koh, Corentin Affortit, Kazuaki Homma, Satoe Takahashi, Jonathan M. Nizar, Paul T. Ranum, Rose Gogal, Eun-Mi Kim, Minkyung Kang, Diana L. Kolbe, Fengxiao Bu, Cody West, Donghong Wang, Amanda Odell, Amy Weaver, Jori Hendon, William D. Walls, Michael J. Schnieders, Richard J. H. Smith

10.1007/s00439-026-02858-x
View Publication

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project

Yasas D. Kolambage, Claudia Gonzaga-Jauregui, Guillermo Lay-Son, Rupesh Mishra, Njabulo Christian Mabaso, Sok-Kun Tae, Kristin A. Maloney, Carolina I. Galaz-Montoya, Dineshani Hettiarachchi, Bronwyn Dillon, Nilam Thakur, Ludivine de Menten, Cecilia Mellado, Carol L. Greene, Toni I. Pollin, Amanda Krause, Meow-Keong Thong, Alan R. Shuldiner, Vajira H. W. Dissanayake

10.1007/s00439-026-02849-y
View Publication

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova, Diana Carli, Verdiana Pullano, Flavia Palermo, Alessandro Mussa, Elisa Biamino, Vincenzo Antona, Andrea Zonta, Paola Dimartino, Mariia Zadorozhna, Alessandro Bruselles, Roberto Keller, Barbara Pasini, Enrico Grosso, Giorgia Mandrile, Andrea Angius, Carlo Arduino, Irene Bagnasco, Elga Fabia Belligni, Giovanni Birolo, Rachele Cantone, Silvia Carestiato, Chiara Davico, Manila Deiana, Eleonora Di Gregorio, Enza Ferrero, Giorgia Gai, Andrea Gazzin, Daniela Francesca Giachino, Chiara Giovenino, Andrea Guala, Antonella Maffè, Andrea Maschio, Matteo Massidda, Stefania Massuras, Alice Moroni, Valeria Giorgia Naretto, Alessandra Pelle, Anna Maria Pengo, Francesco Pintus, Aldamaria Puliti, Vincenzo Rallo, Evelise Riberi, Antonina Rinninella, Serena Rizzo, Federico Rondot, Paola Salmin, Fabio Sirchia, Lorena Sorasio, Benedetto Vitiello, Giulia Zacchetti, Joseph D. Buxbaum, Silvia De Rubeis, Tommaso Pippucci, Marco Tartaglia, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero

10.1007/s00439-026-02843-4
View Publication

Blending borders: reconstructing the genetic history of the Sindhi population

Chanchal Devnani, Khushboo Gautam, Rakesh Rawal, Gyaneshwer Chaubey

10.1007/s00439-026-02851-4
View Publication

Frequently asked questions

How long does it take to publish?

Online First publication after receipt of corrected proofs.

Reformat to Human Genetics using Livewrite Premium

Is a cover letter required?

A cover letter is implied for submission; the corresponding author should mention any unpublished material included in the manuscript in a cover letter to the Editor.

Reformat to Human Genetics using Livewrite Premium

What are the publication costs?

Open access publication requires an APC of £3790.00 GBP / $5690.00 USD / €4590.00 EUR; subscription publishing has no APC charges.

Reformat to Human Genetics using Livewrite Premium

Research Topics

Genomic variations and chromosomal abnormalities Chromosomal and Genetic Variations Prenatal Screening and Diagnostics Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities Genetics and Neurodevelopmental Disorders Genomics and Chromatin Dynamics Genetic Associations and Epidemiology DNA Repair Mechanisms Metabolism and Genetic Disorders RNA modifications and cancer Genomics and Rare Diseases RNA and protein synthesis mechanisms Sexual Differentiation and Disorders Epigenetics and DNA Methylation Mitochondrial Function and Pathology RNA Research and Splicing Genetic Syndromes and Imprinting DNA and Nucleic Acid Chemistry Hemoglobinopathies and Related Disorders Erythrocyte Function and Pathophysiology Biochemical and Molecular Research Blood groups and transfusion Genetic Neurodegenerative Diseases Carcinogens and Genotoxicity Assessment Cystic Fibrosis Research Advances