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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.

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Subject Genetics & Heredity
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.
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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.
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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.
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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.
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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.
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Recent Publications

Correction: A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification

Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P. G. Vreeswijk, Mar Rodríguez-Girondo

10.1007/s00439-026-02844-3
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Improved functional JAG1 and NOTCH2 variant testing in patients with clinical or suspected Alagille syndrome using new low-Notch activity cells

Nicole Buhl, Eva-Doreen Pfister, Daniel V. Oliveira, Fabio Turetti, Eberhard Lurz, Ulrich Baumann, Nataliya Di Donato, Thomas Illig, Britta Skawran, Emma R. Andersson, Jan Mašek, Amelie Stalke

10.1007/s00439-026-02832-7
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Epigenetic silencing of DLEC1 correlates with tumor immune microenvironment and predicts immunotherapy prognosis in multiple cancers

Ruijie Ming, Qi Xiong, Shuh-Ying Tan, Lili Li, Shujie Bao, Jianhua Wang, Lijuan Zhao, Xiaoqian He, Zeze Zheng, Yan Wang, Xiaoyu Liu, Jun Tang, Zhongjun Wu, Tingxiu Xiang, Qian Tao

10.1007/s00439-026-02828-3
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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved

Holly C. Beale, Victor Tse, Joanna Y. Lee, Jon Akutagawa, Yusuph Mavura, Brandon Saint-John, Allison Cheney, Dennis R. Mulligan, Guillermo Chacaltana, Martin Gutierrez, Jessica Tenney, Joseph T. Shieh, Pierre-Marie Martin, Tiffany Yip, Ugur Hodoglugil, Alex J. Fay, Angela N. Brooks, Jessica Van Ziffle, Michael D. Stone, Neil Risch, Jeremy R. Sanford, Patrick Devine, Julie D. Saba, Olena M. Vaske, Anne Slavotinek

10.1007/s00439-026-02830-9
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Bringing environment back into human evolution: why human genetics needs genome-environment association studies

Pei-Wei Sun

10.1007/s00439-026-02838-1
View Publication

Frequently asked questions

How long does it take to publish?

Online First publication after receipt of corrected proofs.

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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.

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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.

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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

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