Author Instructions

Guide for Authors

Aims and Scope

The Journal of Human Genetics seeks to promote research from all aspects of human genetics, including medical genetics and genomics. The journal accepts molecular, clinical or cytogenetic research articles, short reports and reviews.

Topics of particular interest within the journal’s scope include, but are not limited to, those listed below:

• Medical genetics
• Human genome analysis
• Gene cloning and mapping
• Linkage and association analyses
• Mutational analysis
• Susceptibility genes to multifactorial disorders
• Human Evolution
• Cancer genetics
• Gene therapy
• Genetic and functional analysis of animal models of disease or behaviour
• Genetic polymorphism of biologically important genes
• Novel mutations found in patients with hereditary diseases
• Novel mutations found in cancer cells
• Population genetics

Prior to Submission

Editor-in-Chief: Katsushi Tokunaga

A manuscript will be considered for publication on the understanding that all named authors have agreed to its submission and that if accepted it will not be later published in the same or similar form in any language without the consent of the publishers. The editors also encourage submission of Reviews, Short Communications and items of Correspondence.

The editors reserve the right to reject manuscripts without review. Such rejections must be approved by the editor-in-chief, and are intended to alleviate unnecessary workload for the editorial board, as well as provide authors the opportunity to seek other publishing options as soon as possible. Articles that are selected for peer review will be reviewed by two or more referees.

To avoid unnecessary delays in the review process, please consider the following policies carefully before you submit your manuscript. Manuscripts that are not concise or do not conform to the conventions and standards of the Journal of Human Geneticswill be returned to the authors for revision.

Conflicts of Interest

In the interests of transparency and to help reviewers assess any potential bias, the Journal of Human Genetics requires authors of original research papers to declare any competing commercial interests in relation to the submitted work. Referees are also asked to indicate any potential conflict they might have reviewing a particular paper.

Electronic manipulation of images

Digital image enhancement is acceptable practice, although it can result in the presentation of unrepresentative data as well as in the loss of meaningful signals. During manipulation of images a positive relationship between the original data and the resulting electronic image must be maintained. If a figure has been subjected to significant electronic manipulation, the specific nature of the enhancements must be noted in the figure legend or in the 'Materials and methods' section. The editors reserve the right to request original versions of figures from the authors of a paper under consideration.

Any manuscripts under review or accepted for publication elsewhere should accompany the submission if they are relevant to its scientific assessment. Authors should also provide upon submission any kind of supplementary material that will aid the review process.

The content types accepted by the Journal of Human Genetics are:

Original article

Short communication

Correspondence

Review

Format of Papers

All papers should be written in concise English but should contain sufficient detail to illustrate how the results were obtained. Manuscripts should be double-spaced with wide margins.

Manuscripts are considered with the understanding that they have not been published previously in print or electronic format and are not under consideration by another publication or electronic medium. Copies of possibly duplicative materials that have been previously published or are being considered elsewhere must be provided at the time of manuscript submission.

Manuscripts should contain a statement to the effect that all human studies have been reviewed by the appropriate ethics committee or it should be stated clearly in the text that all persons gave their informed consent prior to their inclusion in the study. Details that might disclose the identity of the subjects under study should be omitted.

The uploaded covering letter must state that the material has not been submitted for publication elsewhere while under consideration for the Journal of Human Genetics. Identify the name, full postal address, and fax number, of corresponding author. The authors are free to offer suggestions of suitable expert reviewers.

S Studies that are of high scientific quality and that are of interest to the diverse readership of the journal. Manuscripts should include an abstract and appropriate experimental details to support the conclusions. Original Articles should be no more than 5000 words and should not normally include more than six display items (tables and/or figures).They should include title, abstract, introduction, materials and methods, results and discussion sections.

Studies that fall short of the criteria for full research papers (eg short experimental reports limited by sample size or duration, novel hypotheses or commentaries) may be submitted as Short Communications. Experimental details are not required in Short Communications, but a general outline of experimental methods should be included. They should contain no more than 1000 words of text, a maximum of three display items (tables and/or figures) and a maximum of 20 references. Short Communications should include title, abstract, and description sections, but there is otherwise no need to divide the text into sections. In all other respects, the directions for full papers should be followed.

Preliminary reports of unusual urgency, significance and interest, whose subjects may be republished in expanded form, may be submitted as items of Correspondence. They should contain no more than 900 words of text, one display item (figure or table) and a maximum of 10 references. Correspondence items do not contain an abstract, and apart from keywords there is no obligation to divide the text into sections. In all other respects, the directions for full papers should be followed.

Reviews normally have a word limit of 5000 words including abstract but excluding references, tables and figures. A number of Reviews will be solicited by the editors; however, we also welcome timely, unsolicited Reviews. Authors with proposals for Reviews should present information concerning the proposed content and authors of their Review to the editors prior to submission. Unless otherwise informed, all changes for color images will be the authors’ responsibility.

Please make spelling consistent with current editions of either Webster’s Dictionary or Oxford English Dictionary.

In general, manuscripts should be divided in to the following sections:

Title page

Abstract

Introduction

Materials and methods

Results

Discussion

Acknowledgements

References

Figure legends

Figures

Tables

Supplementary Information

Title page Title page, giving a concise but informative title, and the first and last names, and other initials, and affiliations (but not degrees) of all contributors (formerly called authors). The order in which the contributors are listed should be agreed amongst the investigators, and should indicate that the first listed made the greatest contribution to the paper. Please provide a running title of no more than 50 characters including spaces.

Up to eight keywords, which may or may not appear in the title, should be given in alphabetical order, below the abstract, each separated by a slash (/).

Abstract An abstract of not more than 150–200 words. The abstract should be comprehensible to readers before they have read the paper, and abbreviations and reference citations within the abstract should be avoided.

Introduction This should give a short, clear account of the background and reasons for undertaking the study. It should not be a review of the literature.

Materials and methods This section should contain sufficient detail so that all experimental procedures can be repeated by others, in conjunction with cited references. This section may be divided into subheadings to assist the reader. Names of products and manufacturers should be included only if alternative sources are deemed unsatisfactory.

Instruments used, as well as standard techniques and procedures applied throughout the work, should appear in a paragraph at the beginning of the Materials or Experimental section. Novel experimental procedures should be described in detail, but published procedures should be referred to by literature citation of the original article and published modifications.

Authors should use approved nomenclature for gene symbols, and use symbols rather than italicized full names (TTN, not titin). Please consult the appropriate nomenclature databases for correct gene names and symbols. A useful resource is LocusLink. Approved human gene symbols are provided by HUGO Gene Nomenclature Committee (HGNC), e-mail: nome@galton.ucl.ac.uk; see also http://www.gene.ucl.ac.uk/nomenclature . Approved mouse symbols are provided by The Jackson Laboratory, e-mail: nomen@informatics.jax.org; see also http://www.informatics.jax.org/mgihome/nomen.

Avoid listing multiple names of genes (or proteins) separated by a slash, as in 'OCT4/POU5F1', as this is ambiguous (it could mean a ratio, a complex, alternative names or different subunits). Use one name throughout and include the other at first mention: 'OCT4 (also known as POU5F1)'.

Results The description of results should not simply reiterate data that appear in tables and figures and, likewise, the same data should not be displayed in both tables and figures. The results section should be concise and follow a logical sequence. If the paper describes a complex series of experiments, it is permissible to explain the protocol/experimental design before presenting the results. Do not discuss the results or draw any conclusions in this section. This section may be divided into subheadings to assist the reader. Large datasets or other cumbersome data pertinent to the manuscript may be submitted as supplementary information.

Discussion Do not recapitulate the results, but discuss their significance against the background of existing knowledge, and identify clearly those aspects that are novel. The final paragraph should highlight the main conclusion(s), and provide some indication of the direction future research should take. This section may be divided into subheadings to assist the reader. Results and Discussion may be combined.

Acknowledgements These should be brief, and should include sources of financial support, material (e.g. novel compounds, strains, etc.) not available commercially, personal assistance, advice from colleagues and gifts.

References Authors are responsible for the accuracy of the references. Published articles as well as those in press (please state the name of the journal and enclose a copy of the manuscript) may be included. In the text of the manuscript, references to the literature should be numbered consecutively and indicated by a superscript. Each reference should be numbered individually and listed at the end of the manuscript; examples are given below. All authors should be quoted for papers with up to six authors; for papers with seven or more authors, the first six authors only should be quoted, followed by et al.

1. Nakashima, H., Hasegawa, T., Sakai, M., Inaba, R. & Imamura, T. Identification of iso(18p) marker chromosome by fluorescence in situ hybridization with single-copy DNA probe. Jpn J. Hum. Genet. 40, 185–188 (1995).
2. Oishi, T., Iida, A., Otsubo, W., Kamatani, Y., Usami, M., Takei, T., Uchida, K., Tsuchiya, K. et al. A functional SNP in the NKX2.5-binding site of ITPR3 promoter is associated with susceptibility to systemic lupus erythematosus in Japanese population. J. Hum. Genet. 53, 151-162 (2008).

1. Vogel, F. & Motulsky, A. G. Human Genetics — Problems and Approaches 3rd edn (Springer, New York, 1997).

1. Kimura, M. in Evolution of Life (eds Osawa, S. & Honjo, T.) 67–78 (Springer, New York, 1991).

Journal names are italicized and abbreviated (with periods) according to common usage; refer to Index Medicus for details.

Citations of ‘unpublished data’ and ‘S. A. Waksman, personal communication’ should be written in the text parenthetically. Written proof for ‘personal communication’ and preprint for ‘in press’ may be requested for review.

Figures These should be labeled sequentially as Figure 1, Figure 2, etc. Each figure should be saved in a separate file, numbered and titled and cited in the text. Figure legends should be printed, double spaced, on a separate sheet titled ‘Titles and legends to figures’. Figures should be referred to specifically in the text of the paper but should not be embedded within the text. The use of three-dimensional histograms is strongly discouraged when the addition of the third dimension gives no extra information. If a table or figure has been published before, the authors must obtain written permission to reproduce the material in both print and electronic formats from the copyright owner and submit it with the manuscript. This follows for quotes, illustrations and other materials taken from previously published works not in the public domain. The original source should be cited in the figure caption or table footnote. Colour figures can be reproduced if necessary, but the authors will be expected to contribute towards the cost of publication. A quote will be supplied upon acceptance of your paper.

Tables These should be labeled sequentially as Table 1, Table 2, etc. Each table should be saved in a separate file, numbered and titled, and cited in the text. Reference to table footnotes should be made by means of Arabic numerals. Tables should not duplicate the content of the text. They should consist of at least two columns; columns should always have headings. Authors should ensure that the data in the tables are consistent with those cited in the relevant places in the text, totals add up correctly, and percentages have been calculated correctly. Unlike figures or images, tables may be embedded into the word processing software if necessary, or supplied as separate electronic files.

Supplementary information Supplementary information is peer-reviewed material directly relevant to the conclusion of an article that cannot be included in the printed version owing to space or format constraints. It is posted on the journal's web site and linked to the article when the article is published and may consist of data files, graphics, movies or extensive tables.

The printed article must be complete and self-explanatory without the supplementary information. Supplementary information enhances a reader’s understanding of the paper but is not essential to that understanding.

Supplementary information must be supplied to the editorial office in its final form for peer review. On acceptance the final version of the peer reviewed supplementary information should be submitted with the accepted paper.

To ensure that the contents of the supplementary information files can be viewed by the editor(s), referees and readers, please also submit a ‘read-me’ file containing brief instructions on how to use the file.

The supplementary information may not be altered, nor new supplementary information added, after the paper has been accepted for publication.

Authors should ensure that supplementary information is supplied in its FINAL format becuase it is not subedited and will appear online exactly as originally submitted. It cannot be altered, nor new supplementary information added, after the paper has been accepted for publication.

Please supply the supplementary information via eJP, the electronic manuscript submission and tracking system, in an acceptable file format (see below). Authors should:

• Include a text summary (no more than 50 words) to describe the contents of each file.
• Identify the types of files (file formats) submitted.
• Include the text ‘Supplementary information is available at (the journal’s name)’s website’ at the end of the article and before the references.

Accepted file formats

• Quick Time files (.mov)
• Graphical image files (.gif)
• HTML files (.html)
• MPEG movie files (.mpg)
• JPEG image files (.jpg)
• Sound files (.wav)
• Plain ASCII text (.txt)
• Acrobat files (.pdf)
• MS Word documents (.doc)
• Postscript files (.ps)
• MS Excel spreadsheet documents (.xls)
• PowerPoint (.ppt)
• We cannot accept TeX and LaTeX.

File sizes must be as small as possible, so that they can be downloaded quickly. Images should not exceed 640 x 480 pixels (9 x 6.8 inches at 72 pixels per inch) but we would recommend 480 x 360 pixels as the maximum frame size for movies. We would also recommend a frame rate of 15 frames per second. If applicable to the presentation of the supplementary information, use a 256-colour palette. Please consider the use of lower specification for all of these points if the supplementary information can still be represented clearly. Our recommended maximum data rate is 150 KB/s.

The number of files should be limited to eight, and the total file size should not exceed 8 MB. Individual files should not exceed 1 MB. Please seek advice from the editorial office before sending files larger than our maximum size to avoid delays in publication.

Further questions about the submission or preparation of supplementary information should be directed to the editorial office.

House Style

As the electronic submission will provide the basic material for typesetting, it is important that papers are prepared in the general editorial style of the journal.

1. See the artwork guidelines for information on labeling of figures
2. Do not make lines thinner than 1pt (0.36mm)
3. Use a coarse hatching pattern rather than shading for tints in graphs
4. Colour should be distinct when being used as an identifying tool
5. Use SI units throughout
6. Spaces, not commas, should be used to separate thousands
7. Abbreviations should be preceded by the words for which they stand in the first instance of use
8. Text should be double spaced with a wide margin

Nucleotide data

New nucleotide data must be deposited in the DDBJ/EMBL/GenBank databases and an accession number obtained before a paper can be accepted for publication. Submission to any one of the three collaborating databanks is sufficient to ensure data entry in all. The accession number should be included in the manuscript, e.g. as a footnote on the title page: The nucleotide sequence data reported are available in the DDBJ/EMBL/GenBank databases under the accession number(s) ----. If requested, the database will withhold release of data until publication. The most convenient method for submitting sequence data is by using the following URLs:

• DDBJ via SAKURA: http://sakura.ddbj.nig.ac.jp/
• EMBL via WEBIN: http://www.ebi.ac.uk/embl/Submission/webin.html
• GenBank via BankIt: http://www.ncbi.nlm.nih.gov/BankIt/ or by stand-alone submission tool Sequin: http://www.ncbi.nlm.nih.gov/Sequin/

For special types of submissions (e.g. genomes and bulk submissions), additional submission systems are available at the following sites:

• DDBJ: Center for Information Biology and DNA Data Bank of Japan National Institute of Genetics, Yata, Mishima, Shizuoka 411-8540, JAPAN; telephone: +81-559-81-6853; fax: +81-559-81-6849; e-mail: ddbj@ddbj.nig.ac.jp URL: http://www.ddbj.nig.ac.jp
• EMBL: EMBL Nucleotide Sequence Submissions, European Bioinformatics Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SD, U.K.; telephone: +44-1223-494400; fax: +44-1223-494472; e-mail: datasubs@ebi.ac.uk URL: http://www.ebi.ac.uk
• GenBank: National Center for Biotechnology Information, National Library of Medicine, Bidg. 38A, Rm 8N-803, Bethesda, Maryland 20894, USA; telephone: +1-301-496-2475; fax: +1-301-480-9241; e-mail: info@ncbi.nlm.nih.gov URL: http://www.ncbi.nlm.nih.gov

Non-Native Speakers of English

Researchers who are not native speakers of English who submit manuscripts to international journals often receive negative comments from referees or editors about the English-language usage in their manuscripts, and these problems can contribute to a decision to reject a paper. To help reduce the possibility of such problems, we strongly encourage such authors to take at least one of the following steps:

• Have your manuscript reviewed for clarity by a colleague whose native language is English.
• Use one of the many English language editing services that are available, such as that offered by Nature Publishing Group Language Editing . An editor will improve the English to ensure that your meaning is clear and identify problems that require your review.

Please note that the use of Nature Publishing Group Language Editing is at the author's own expense and in no way implies that the article will be selected for peer review or accepted by an NPG journal (or any other journal). The decisions that the editors of any NPG journal make based on the quality and suitability of a manuscript for that journal are entirely independent of whether that manuscript has been language-edited by Nature Publishing Group Language Editing.

Submission of papers

The first thing you need to do, if you have not done so already, is register for an account. After this, please follow the instructions below to enable you to submit your article through our secure server.

Please be sure that your browser is set to accept cookies. Our tracking system requires cookies for proper operation. (If you have Windows XP the defaults will need changing. For more details on this, please refer to the 'Tips' function on this site.)

Navigating the System

When you first access our tracking system, you will be taken to your Home page, where different categories of tasks are listed. If you are required to perform a pending action item or task, there will be a red arrow next to a 'Manuscript' link. Throughout the system, red arrows reflect pending action items which you should address. If there are no red arrows visible on your Home page, then you are finished and have no outstanding tasks to complete.

At any time please press HOME to go to the submission home page.

Process for Manuscript Submission

Please make sure you have gathered all the required manuscript information listed above BEFORE starting the submission process. The manuscript submission process starts when you press the "Submit Manuscript" link on your "Home" page. The manuscript submission process is broken down into a series of 4 primary tasks that gather detailed information about your manuscript and allow you to upload the pertinent text and figure/image files. The sequence of screens is as follows:

1. The ‘Files’ primary task allows you to select the actual file locations (via an open file dialogue). You will be able to 'Browse' for the relevant files on your computer. Please include the figure number in the title line for each figure. On the completion screen, you will be asked to specify the order in which you want the individual files to appear in the merged document. Editors and/or reviewers will also be able to look at the individual PDF files if necessary.
2. The ‘Manuscript Information’ primary task which asks for author details, the manuscript title, abstract, other associated manuscript information and types/number of files to be submitted. Please note, if you are the corresponding author please submit your details in the corresponding author fields; DO NOT re-enter the same details in the contributing author fields.
3. The ‘Validate’ primary task gives you the opportunity to check and verify the manuscript files and manuscript information uploaded. If you are submitting manuscript files separately, we create a merged PDF containing your manuscript text, figures and tables to simplify the handling of your paper. You will need to approve the merged PDF file, and a PDF or any other file not included in the merge, to submit your manuscript. You may also update and/or change manuscript files and manuscript information by clicking on the ‘Change’ or ‘Fix’ links respectively.
4. The ‘Submit’ primary task is the last step in the manuscript submission process. At this stage the Manuscript Tracking System will perform a final check to ensure that all mandatory fields have been completed. Any incomplete fields will be flagged by a red arrow and highlighted by a red box. Click on the ‘Fix’ link to return to relevant section for completion. Once your manuscript has been finalised, click on the ‘Approve Submission’ button to submit your manuscript for consideration. A ‘Manuscript Approved’ message will display on your author desktop to confirm the submission.

• Email Addresses
• First and Last Names
• Institution
• (Full Postal Address)
• (Work Telephone Numbers)
• Fax Numbers

• Covering letter
• Title and Running head (you can copy and paste this from your manuscript)
• Abstract (you can copy and paste this from your manuscript)
• Manuscript files in Word, WordPerfect, text or any RTF format
• Figures/Images in external files in TIFF or JPEG, in either grayscale or CMYK colour, not in RGB
• Tables in Excel (preferred) as separate files or embedded at the end of the manuscript file

Adobe Acrobat

Once you have submitted your files and the conversion is in progress, you may log off the Internet and come back later to check and approve the conversion. This process can take up to 5 - 10 minutes before the PDF, created in the conversion process, is ready for approval. Please remember that your manuscript will not be submitted until you have approved the converted files.

Getting Help

If you need additional help, you can click on the help signs spread throughout the system. A help dialogue will pop up with context sensitive help. Should further assistance be required, then please contact NPG Applications Helpdesk.

Manuscript Status

After you approve your manuscript, it is submitted and you will receive an acknowledgement by email. You can check the status of your manuscript at any time in the review process by:

1. Accessing the system with your password or the link sent to you in the acknowledgement email
2. Clicking on the link represented by your manuscript tracking number and abbreviated title.
3. Clicking on the "Check Status" link at the bottom of the displayed page.

License to Publish

The corresponding author must complete and sign the License to Publish form upon acceptance of the manuscript and return it to the editorial office. Failure to do so will result in delays to the publication of your paper. A copy of the License to Publish form can be found at http://mts-jhg.nature.com/letters/jhg_copyright.pdf

The Journal of Human Genetics does not require authors of original research papers to assign copyright of their published contributions. Authors grant Journal of Human Genetics an exclusive license to publish, in return for which they can re-use their papers in their future printed work. NPG's author license page provides details of the policy and a sample form. Authors are encouraged to submit their version of the accepted, peer-reviewed manuscript to their funding body's archive, for public release six months after publication. In addition, authors are encouraged to archive their version of the manuscript in their institution's repositories (as well as on their personal web sites), also six months after the original publication. Authors should cite the publication reference and doi number on any deposited version, and provide a link from it to the published article on the NPG website. This policy complements the policies of the US National Institutes of Health, the Welcome Trust and other research funding bodies around the world. NPG recognizes the efforts of funding bodies to increase access of the research they fund, and strongly encourages authors to participate in such efforts.

Advance Online Publication

All original articles are published ahead of print on Advance Online Publication. This will be the final version of the manuscript and will subsequently appear, unchanged, in print.

Proofs

Once the manuscript has been accepted, the corresponding author will receive PDF proofs and are responsible for proofreading and checking the entire article. Authors should correct only typesetting errors, no major alteration of the text will be accepted. Page proofs must be returned within 48 hours to avoid delays in publication along with the reprint order if required.

Offprints

Offprints may be ordered using the order form available for download with the proofs. Later orders submitted after the journal is printed are subject to increased reprint prices.

Business Matters

To find out who to contact for business correspondence and enquiries such as advertising, subscriptions, permissions, papers in production or publishing a supplement, please visit our publisher’s contacts page.

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