Annals of Human Genetics

Cover image for Vol. 80 Issue 5

Edited By: Mark G. Thomas

Impact Factor: 1.889

ISI Journal Citation Reports © Ranking: 2015: 114/165 (Genetics & Heredity)

Online ISSN: 1469-1809

Author Guidelines

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Author Guidelines

Instructions for authors

Aims & Scope

Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible.

Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.

Submission of manuscripts      

Online Submissions

Annals of Human Genetics requests authors submit manuscripts online at Step-by-step instructions on how to submit your manuscripts online are available during the submission process.

Enquiries should be addressed to:

The Editors
Annals of Human Genetics
John Wiley & Sons
9600 Garsington Road
Oxford, OX4 2DQ
United Kingdom

Tel: +44 (0)1865 476 387


Submitting authors should include a contact email address and fax and phone numbers. Authors must suggest at least four possible referees for their paper; failure to do so may result in delays in the refereeing process. It is the responsibility of the submitting author to ensure that the authorship of the paper reflects the contributions of the authors to the work described, and that all listed authors have been notified and have agreed to the submission of the manuscript in its current form.

Conditions of publication in the Annals are: (a) that the paper has not already been published elsewhere; (b) that it is not currently being considered for publication elsewhere; (c) that, once published in the Annals, it will not be reprinted without permission from the Editors; (d) all persons designated as authors should qualify for authorship, and all those who qualify should be listed. If accepted, the University College London and Wiley Blackwell have the exclusive license to publish.

The ICMJE recommends that authorship be based on the following 4 criteria:

  • Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; AND
  • Drafting the work or revising it critically for important intellectual content; AND
  • Final approval of the version to be published; AND
  • Agreement 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.

Annals of Human Genetics uses CrossCheck plagiarism software as part of the editorial process. CrossCheck is an initiative started by CrossRef to help its members actively engage in efforts to prevent scholarly and professional plagiarism. The software identifies matching text in different documents, which can highlight possible cases of plagiarism for the editorial office to investigate further. By submitting your manuscript to this journal you accept that your manuscript may be screened for plagiarism against previously published works.

Review Articles

Contributors seeking to publish a Review Article or Mini-review are encouraged to contact the Editor-in-Chief, Prof. Mark G. Thomas (, with a proposal prior to submission. The guidelines for authors are as follows:

Review proposals should include a full-page summary of the proposed contents with key references. 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. Reviews should take a broad view of the field rather than merely summarizing the author’s own previous work, so extensive citation of the author’s own publications is discouraged.

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. Should colour figures be included, the print reproduction charges may be waived at the discretion of the Editor-in-Chief for authors of Review Articles.

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 3,000 words, and should contain fewer tables/figures than an original article, preferably no more than 2-4 tables and figures combined.

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 requirements.

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.

Pre-submission English-language editing

Authors for whom English is a second language may choose to have their manuscript professionally edited before submission to improve the English. A list of independent suppliers of editing services can be found at Japanese authors can also find a list of local English improvement services at Authors in China can visit the Author Resources site on for additional resources, including tips for English writing skills, and bilingual, short presentations on different topics of interest.

All services are paid for and arranged by the author, and use of one of these services does not guarantee acceptance or preference for publication.


If your paper is accepted, the author identified as the formal corresponding author for the paper 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.

For authors signing the copyright transfer agreement

If the OnlineOpen option is not selected, the corresponding author will be presented with the copyright transfer agreement (CTA) to sign. The terms and conditions of the CTA can be previewed in the samples associated with the Copyright FAQs below:

CTA Terms and Conditions


OnlineOpen is available to authors of articles who wish to make their article open access. With OnlineOpen the author, their funding agency, or institution pays a fee to ensure that the article is made available to non-subscribers upon publication via Wiley Online Library, as well as deposited in PubMed Central and PMC mirror sites. In addition to publication online via Wiley Online Library, authors of OnlineOpen articles are permitted to post the final, published PDF of their article on a website, institutional repository, or other free public server, immediately on publication. If you want your article to be open access please choose the approprite license agreement when you log in to Wiley's Author Services system. Click on 'Make my article OnlineOpen' and choose the appropriate license by clicking on 'Sign license agreement now' when you log in to Wiley's Author Services system.

For authors choosing OnlineOpen

If the OnlineOpen option is selected, the corresponding author will have a choice of the following Creative Commons License Open Access Agreements (OAA):

Creative Commons Attribution License OAA
Creative Commons Attribution Non-Commercial License OAA
Creative Commons Attribution Non-Commercial -NoDerivs License OAA

To preview the terms and conditions of these open access agreement, please visit the Copyright FAQs hosted on Wiley Author Services and visit

If you select the OnlineOpen option and your research is funded by The Wellcome Trust and members of the Research Councils UK (RCUK) you will be given the opportunity to publish your article under a CC-BY license supporting you in complying with Wellcome Trust and Research Councils UK requirements. For more information on this policy and the Journal's compliant self-archiving policy, please visit:


Annals of Human Genetics is a member of, and subscribes to the principles of, the Committee on Publication Ethics (COPE) (

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

Production Editor

Michael John M. Flores
Production Editor
Tel: +632 855 8618
Fax: +632 325 0768

NIH-funded authors and Annals of Human Genetics

The NIH mandates grantees to deposit their peer-reviewed author manuscripts in PubMed Central, to be made publicly available within 12 months of publication. The NIH mandate applies to all articles based on research that has been wholly or partially funded by the NIH and that are accepted for publication on or after April 7, 2008. In order to help authors comply with the NIH mandate, for papers accepted for publication in Annals of Human Genetics, Wiley Blackwell will post the accepted manuscript (incorporating all amendments made during peer review, but prior to the publisher's copy-editing and typesetting) of articles by NIH grant-holders to PubMed Central at the point of acceptance by the journal. This version will then be made publicly available in PubMed Central 12 months after publication. Following the deposit Wiley Blackwell authors will receive further communications from the NIH with respect to the submission. For further information, please see the Funder Policies page on Wiley Online Library.

If authors wish to make their final published article openly accessible and without a 12 month embargo, they can choose to publish via the OnlineOpen service.

Wellcome and HHMI grantees obtain further information on the Funder Policies page on Wiley Online Library.

Supporting Information

Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition, can be submitted.

It should be clearly stated at the time of submission that the authors intend for the Supporting Information to be made available through the online edition. Supporting Information will be made available in electronic form free of charge either through the journal's Web pages or on request from Wiley Blackwell. Alternatively, if the size or format of the Supporting Information is such that it cannot be accommodated on the journal's Web site, the author agrees to make the Supporting Information available free of charge on a permanent Web site, to which links will be set up from Annals of Human Genetics' Web site. The author must advise Wiley Blackwell if the URL of the Web site where the Supporting Information is located changes.

The availability of Supporting Information should be indicated in the main manuscript by a paragraph, to appear after the References, headed 'Supporting Information' and providing titles of figures, tables, etc. The Supporting Information should be submitted to the Editorial Office in final form, ready for viewing, or alternatively, if the size or format is such that it cannot be submitted, the author should make the Supporting Information available for viewing in final form via the Web by the Editorial Office and by reviewers. No changes can be made subsequently by the Editorial Office or the Publisher. This Supporting Information is an integral part of the article and will be reviewed accordingly.

Presentation of manuscripts

Manuscripts should be double-spaced throughout and with adequate margins. Footnotes to the text should be avoided. Quotation marks should be single, not double. Italics, as in the case of genotypes or algebraic parameters in the text, should be indicated either by italic type or by underlining. This is not necessary in numbered equations where mathematical symbols will be italicised as a matter of course.

Title page

(a) Titles should be as concise as possible and should wherever possible directly relate to the major finding(s) of the paper. Titles should be in lower case roman type, capitals and italics being employed only where necessary.(b) Authors' names should be in capitals. Full first names, middle initials and surnames are required, no qualifications.(c) Authors' addresses should be adequately stated for postal communication, and the fax number and email address of the author to whom correspondence should be addressed should be supplied.(d) A short 'running head', to be used at the top of subsequent right-hand pages, should be suggested.(e) A short list of key words should be included.


This must contain a summary of the major findings and conclusions of the paper, and should not exceed 200 words. If any human gene is discussed the approved gene symbol must be mentioned. An absolute 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.

Subsequent sections

Wherever possible, papers should be arranged with the following headings, centred and in capitals:


Sub-headings are normally to the left of the page in lower case italics.


Besides personal acknowledgements, sources of financial support should be mentioned in this smaller-type section. 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.


References in Articles

We recommend the use of a tool such as EndNote or Reference Manager for reference management and formatting.

EndNote reference styles can be searched for here:

Reference Manager reference styles can be searched for here:

References should be submitted in Harvard style, cited in the text by author's name and year of publication. All author names of a specific article should be provided in the reference list. An ampersand (&) is used to link two co-authors and is also used to link the last author name in the author lineup. References should be checked carefully before submission to make sure that all references given in the text (and no others) appear in the list of references and that the spelling of authors' names and the dates are correct in both text and reference list. Responsibility for accuracy rests entirely with the authors.

The reference list should be presented double-spaced and in alphabetical order. The titles of journals should be abbreviated according to the World List of Scientific Periodicals. The references should be arranged and punctuated along the following lines:

Ott, J. (1991) Analysis of human genetic linkage. Baltimore, London: Johns Hopkins University Press.

Rao, D.C. (1983) Path analysis of pairs of relatives. In: Methods in genetic epidemiology (eds. N.E. Morton, D.C. Rao & J.-M. Lalouel), pp. 23-60. Basel: S. Karger.

Sham, P.C. & Curtis, D. (1995) Monte Carlo tests for associations between disease and alleles at highly polymorphic loci. Ann. Hum. Genet. 59, 97-105.


Detailed sets of data or proofs of mathematical propositions may be given in the form of APPENDIX I, APPENDIX II, etc., following the reference list, if they are likely to prove valuable to other workers. Since such data may actually be more useful electronically than on paper, they may be submitted as 'Supporting Information'.


Each table should be on an unnumbered separate page and have a concise title in italics. Other information may either follow the title in parenthesis (in smaller roman type) or be given beneath the table in footnotes. The table will be inserted as near as possible to its first mention in the text. The space limitations of the printed page should be borne in mind when composing tables.


Figures must be submitted electronically (please see below for details). Illustrations should be in black and white unless colour is essential to the scientific point. Authors will be asked to contribute to the cost of colour printing if colour is required in the print version of the journal. Colour reproduction charges are currently £150 for the first figure and £50 for each subsequent figure. Please note there are no colour charges for review articles. Please download and complete the  Colour Work Agreement Form. The completed form should be returned to Michael John M. Flores ( If an author chooses not to pay the colour reproduction charge, figures will be in colour in the online HTML and PDF versions of the article, but will be reproduced in black and white in the print version. Failure to complete and return this form may delay publication. Grey-shaded areas on computer-drawn figures (tinting) should be avoided. Preferably figures should require no alteration in scale; in particular authors should note that various levels of stippling and cross-hatching are often indistinguishable when the size is reduced. Legends to figures should be given, double-spaced, as continuous text, on a separate page in the main text file.

Electronic artwork

Please upload digital versions of your figures. Line illustrations should be provided at 600 dots per inch (dpi) and photographs at 300 dots per inch in either Tagged Image File Format (TIFF) or as Encapsulated Postscript (EPS). Detailed information on our digital illustration standards is available at:


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, where examples of acceptable nomenclature are provided.

Polymorphisms 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:

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.


Notification that proofs are ready to download will be sent via email to the corresponding author. The proof will then be available to download as an Acrobat PDF (portable document format) file. Therefore, the corresponding author should supply their email address when they submit their manuscript. Acrobat Reader will be required in order to read this file. This software can be downloaded (free of charge) from the following Web site:

This will enable the file to be opened, read on screen and printed out in order for any corrections to be added. Further instructions will be sent with the proofs. Proofs will be posted if no email address is available; in your absence, please arrange for a colleague to access your email to retrieve the proofs.

Major alterations to the text will be charged to the author and may delay publication.


Free access to the final PDF offprint or your article will be available via author services only. Please therefore sign up for author services if you would like to access your article PDF offprint and enjoy the many other benefits the service offers.

Paper offprints may be purchased if ordered on the form supplied with the proofs. Orders from all authors collaborating in one paper should be returned on the same form.