TA

The American Journal of Human Genetics

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

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

Existing customer login
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.
Reformat to The American Journal of Human Genetics using Livewrite Premium

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.
Reformat to The American Journal of Human Genetics using Livewrite Premium

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.
Reformat to The American Journal of Human Genetics using Livewrite Premium

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.
Reformat to The American Journal of Human Genetics using Livewrite Premium

Recent Publications

A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism

Rebecca Meyer-Schuman, Fisher Cherry, Yang Sui, Athanasios Papastathopoulos-Katsaros, Yi Zhong, Yidan Li, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Hanna Berk-Rauch, Zhandong Liu, Aravinda Chakravarti, Tomasz Nowakowski, Evan E. Eichler, Huda Zoghbi

10.1016/j.ajhg.2026.09.011
View Publication

Hypomorphic IDUA genotypes are associated with retinitis pigmentosa in individuals without syndromic mucopolysaccharidosis type I

Siying Lin, Seok-Ho Yu, Andrew C. Browning, Riccardo Sangermano, Andrzej B. Poplawski, Karolina M. Stepien, Peter Kiraly, Anna R. Ridgeway, Patrick Rump, Marianthi Karali, Francesca Simonelli, Laura K. Finnegan, G. Jane Farrar, Naomi Chadderton, Paul F. Kenna, Emma Duignan, Eleanor McCance, M. Dominik Fischer, Robin Lachmann, Yael Finezilber, Shaun M. Leo, Anthony G. Robson, Nishan Guha, Elaine Murphy, Sian Sperring, Kim Rodenburg, Aleksandr Jestin, Lonneke Haer-Wigman, Jan Willem R. Pott, Marlies M.B. Habing, Emily M. Place, Rachel M. Huckfeldt, Sandro Banfi, Marcela Votruba, Kinga M. Bujakowska, Heather Flanagan-Steet, Omar A. Mahroo, Andrew R. Webster, Susanne Roosing, Richard Steet, Gavin Arno

10.1016/j.ajhg.2026.09.008
View Publication

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L.S. Mesman, Aurelie Drouet, Mélanie Girardi, María Concepción Alonso-Cerezo, Diana Baralle, Nadia Boutry-Kryza, David J. Bunyan, Helen J. Byers, Sandrine M. Caputo, Kathleen B.M. Claes, Miguel De la Hoya, D. Gareth Evans, Laure Frésard, Sophie Krieger, Conxi Lázaro, Mélanie Leone, Eva Macháčková, Mireia Menéndez, Alejandro Moles-Fernández, Gemma Montalban, Erin Mundt, Marcy E. Richardson, Marta Rodríguez-Balada, Elke M. Van Veen, Jamie Weyandt, Judith Balmaña, Amanda B. Spurdle, Orland Diez, Maaike P.G. Vreeswijk, Alexandra Martins, Sara Gutiérrez-Enríquez

10.1016/j.ajhg.2026.09.015
View Publication

This month in The Journal

Paul W. Hook, Alyson B. Barnes

10.1016/j.ajhg.2026.09.004
View Publication

MMACHC burden variants are associated with higher circulating vitamin B12 in the All of Us cohort

Ling Cai, Ralph J. DeBerardinis

10.1016/j.ajhg.2026.08.015
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.

Reformat to The American Journal of Human Genetics using Livewrite Premium

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.

Reformat to The American Journal of Human Genetics using Livewrite Premium

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.

Reformat to The American Journal of Human Genetics using Livewrite Premium

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

Related Journals

HR
Hearing Research Elsevier BV
JO
Journal of Anxiety Disorders Elsevier BV
CJ
Chinese Journal of Natural Medicines Elsevier BV
RM
Respiratory Medicine Case Reports Elsevier BV
EO
ESMO Open Elsevier BV
PI
Progress in Retinal and Eye Research Elsevier BV