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The American Journal of Human Genetics

European Journal of Human Genetics provides insights into human genetics, genomics, molecular, clinical and cytogenetics research.

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Subject Genetics & Heredity
Impact Factor 8.1
Quartile Q1
Open Access Type Hybrid
ISSN 0002-9297
eISSN 1537-6605
Invitation Only No
Cost Range Article processing charge information is not stated. Colour charges apply for print colour figures, and colour charges do not apply to authors who pay an article processing charge to make their paper Open Access.

Submission Instructions

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

Article

Cover Letter A cover letter is required. The cover letter must include the corresponding author's affiliation and contact information, briefly explain the importance of the work and its suitability for the journal's readership, confirm originality and exclusive submission, include previous reviewer comments if the manuscript was considered elsewhere, and note competing interests.
Abstract An abstract is required. The abstract must not exceed 250 words. The abstract must be unstructured.
Manuscript The main text must not exceed 4,000 words excluding the abstract, references, and tables/figures. The manuscript must include a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. The manuscript must include 3-6 keywords on the abstract page, at least one and up to four subject terms, and documentation of any large language model use in the Methods section or another suitable section if no Methods section is available.
References The manuscript may include a maximum of 50 references. References must follow Vancouver format. References must be cited in the text as numbered citations starting at 1 and listed in numerical order, with up to six authors listed in full or the first six followed by et al. if there are more than six authors.
Figures & Tables The manuscript may include a maximum of 4 tables and 4 figures. Figures must not be embedded within the text and must be uploaded as separate files, and each table must be uploaded separately. Tables must be editable and clearly labelled sequentially, figures and images must be labelled sequentially and cited in the text, and composite figures containing more than three individual figures count as two figures.
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Review Article

Cover Letter A cover letter is required. The cover letter must include the corresponding author’s affiliation and contact information, briefly explain the importance of the work and its suitability for the journal’s readership, confirm originality and exclusive submission, include previous reviewer comments if the manuscript was considered by another journal, and note competing interests.
Abstract An abstract is required. The abstract must not exceed 250 words. The abstract must be unstructured. No mandatory abstract headings are specified.
Manuscript The main text must not exceed 6,000 words excluding the abstract, references, and tables/figures. The manuscript must include a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. The manuscript must include 3–6 keywords on the abstract page, at least one and up to four unique subject terms, and documentation of any large language model use in the Methods section or another suitable section if no Methods section is available.
References References are limited to a maximum of 70. References must follow Vancouver format. In-text citations must be numbered consecutively from 1, and the reference list must be in numerical order with up to six authors listed in full or the first six followed by et al. if there are more than six authors.
Figures & Tables A maximum of 4 tables and 4 figures is allowed. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Composite figures containing more than three individual figures count as two figures.
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Brief Communication

Cover Letter A cover letter is required. The cover letter must include the corresponding author's affiliation and contact information, briefly explain the importance of the work and its suitability for the journal's readership, and confirm originality and exclusive submission, with competing interests also noted.
Abstract An abstract is required. The abstract must not exceed 150 words. The abstract must be unstructured.
Manuscript The main text must not exceed 1,500 words excluding the abstract, references, and tables/figures. The manuscript must include a title page, abstract, introduction, materials or subjects and methods, results, discussion, references, acknowledgments, author contribution statement, competing interests, figure legends, tables, and figures. The abstract page must include 3-6 keywords, the manuscript must include an author contributions section and a funding section, and any use of a large language model must be documented in the Methods section or a suitable alternative section if no Methods section is available.
References References are limited to a maximum of 20. References must follow Vancouver format. References must be cited in the text as numbered citations starting at 1 and listed in numerical order, with up to six authors named in full and more than six truncated after the first six with et al.
Figures & Tables A maximum of 3 tables or figures may be included. Figures must not be embedded in the text and must be uploaded as separate files, and each table must be uploaded separately. Tables must be editable and clearly labelled sequentially, and composite figures containing more than three individual figures count as two figures.
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Correspondence

Cover Letter A cover letter is required. The cover letter must include the corresponding author's affiliation and contact information, briefly explain the importance of the work and its suitability for the journal's readership, confirm originality and exclusive submission, include previous reviewer comments if the manuscript was considered elsewhere, and note competing interests.
Abstract Abstract is not required.
Manuscript Main text must not exceed 1,000 words. At least one and up to four unique subject terms must be provided, an author contributions section and funding section are mandatory, and any 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 No more than 10 references may be included. References must follow Vancouver format. References must be numbered in order of citation, listed in numerical order, include all authors if there are up to six or the first six followed by et al. if there are more than six, and provide first and last page numbers.
Figures & Tables Tables and figures must be uploaded as supplementary material. Tables and figures must be labelled sequentially and cited in the text in the correct order.
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Recent Publications

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation

Rohit Thakur, Mai Xu, Alexandra M. Thornock, Joshuah Yon, Samuel Anyaso-Samuel, Martin Lauss, Thomas Rehling, Linh Bui-Raborn, Hayley Sowards, Gerard Duncan, Lea Jessop, Timothy Myers, Raj Chari, Erping Long, Karen Funderburk, Jinhu Yin, Rebecca Hennessey, Emory Hseih, Hannah Levin, Mitchell J. Machiela, Tongwu Zhang, Göran Jönsson, D. Timothy Bishop, Julia Newton-Bishop, Jeremie Nsengimana, Mark M. Iles, Maria Teresa Landi, Matthew H. Law, Thorkell Andresson, Jiyeon Choi, Leonard I. Zon, Jianxin Shi, Kevin M. Brown

10.1016/j.ajhg.2026.08.014
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Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders

Julian Fuhrer, Alexey A. Shadrin, Timothy Hughes, Nadine Parker, Guy Hindley, Evgeniia Frei, Dat Nguyen, Olav B. Smeland, Srdjan Djurovic, Ole A. Andreassen, Anders M. Dale, Oleksandr Frei

10.1016/j.ajhg.2026.08.012
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Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features

Susan M. Hiatt, Wenjing Zhao, Zhongqing Wang, Yingjie Wan, Kewen Chen, Ke Wang, Senwei Tan, Magalie Barth, Gaber Bergant, Thomas Besnard, Emily Boothe, Theresa Brunet, Caleb Bupp, Benjamin Cogne, Julie S. Cohen, Christine Coubes, Bert B.A. de Vries, Madison Donald, Colin A. Ellis, Stephanie Riley Eriksson, Benjamin Ganne, David Genevieve, Benedicte Gerard, Aixa Gonzalez Garcia, Laura G. Hendon, Noa Henig, Kristina Huss, Bertrand Isidor, Taylor Laut, Benjamin R. Leadem, Elysa J. Marco, Daphna Marom, Saadet Mercimek-Andrews, Alison M. Muir, Benjamin Navet, Slavica Ostojić, Borut Peterlin, Rolph Pfundt, Anna Prentice, Clement Prouteau, Bethany Robinette, Dmitrijs Rots, Gita Taurina, Marjon van Slegtenhorst, Ludmila Volozonoka, Marja Wessels, Brayden West, Ayelet Zerem, Yinhong Zhang, Baosheng Zhu, Alban Ziegler, Cécile Courdier, Patricia Fergelot, Julien Van Gils, Shannon Terek, Grace E. VanNoy, Brianna Berlin, Alexandra G. Buonomo, Jillian L. McKee, Gregory M. Cooper, Hui Guo

10.1016/j.ajhg.2026.08.013
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Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations

Micah R. Hysong, Megan M. Shuey, Tyne W. Miller-Fleming, Karl Keat, Adrienne M. Stilp, Yun Li, Nancy J. Cox, Paul L. Auer, Nora Franceschini, Anurag Verma, Laura M. Raffield, Alexander P. Reiner

10.1016/j.ajhg.2026.08.010
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Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness

Hossameldin Loay, Prathitha Kar, Evan Koch, Vladimir Seplyarskiy, Donate Weghorn

10.1016/j.ajhg.2026.08.011
View Publication

Frequently asked questions

How long does it take to publish?

Submission to first editorial decision (median): 5 days. Submission to acceptance (median): 149 days.

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Is a cover letter required?

A cover letter is required. It must include the affiliation and contact information for the corresponding author, explain the importance of the work and its suitability for the journal readership, confirm originality and exclusive submission, and include previous reviewer comments if the manuscript was previously considered by another journal.

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What are the publication costs?

Hybrid open access. Colour charges apply for print colour figures, and colour charges do not apply to authors who pay an article processing charge to make their paper Open Access.

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Research Topics

Genetic Associations and Epidemiology Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genetic Mapping and Diversity in Plants and Animals RNA modifications and cancer Mitochondrial Function and Pathology Epigenetics and DNA Methylation Genetic Syndromes and Imprinting RNA Research and Splicing Metabolism and Genetic Disorders Prenatal Screening and Diagnostics Chromosomal and Genetic Variations BRCA gene mutations in cancer Forensic and Genetic Research Genetic and phenotypic traits in livestock Genetic Neurodegenerative Diseases Congenital heart defects research Genetic factors in colorectal cancer Genomics and Chromatin Dynamics Nutrition, Genetics, and Disease RNA and protein synthesis mechanisms RNA regulation and disease Connective tissue disorders research Bioinformatics and Genomic Networks

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