Guide to Authors

Peer Review Terminology
European Journal of Human Genetics and Springer Nature are participating in a pilot of NISO/STM's Working Group on Peer Review Terminology.

The National Information Standards Organization (NISO) and STM, the International Association of Scientific, Technology and Medical Publishers have recognized a need to identify and standardize definitions and terminology in peer review practices in order to help align nomenclature as more publishers use open peer review models.

A peer review terminology that is used across publishers will help make the peer review process for articles and journals more transparent, and will enable the community to better assess and compare peer review practices between different journals.

The following summary describes the peer review process for this journal:

• Identity transparency: Single anonymized
• Reviewer interacts with: Editor
• Review information published: None

The full terminology is detailed here.

We would welcome feedback on the Peer Review Terminology Pilot. Please can you take the time to complete this short survey.

Article Type Specifications

House Style: Authors must adhere to the following formatting guidelines

• Manuscript files to be in Word, Text or RTF format, not PDF or Latex.
• Text must be double spaced with a wide margin.
• All pages and lines are to be numbered.
• Do not make rules thinner than 1pt (0.36mm).
• Use a coarse hatching pattern rather than shading for tints in graphs.
• Colour should be distinct when being used as an identifying tool.
• Commas, not spaces should be used to separate thousands.
• At first mention of a manufacturer, the town (and state if USA) and country should be provided.
• Statistical methods: For normally distributed data, mean (SD) is the preferred summary statistic. Relative risks should be expressed as odds ratios with 95% confidence interval. To compare two methods for measuring a variable the method of Bland & Altman (1986, Lancet 1, 307–310) should be used; for this, calculation of P only is not appropriate.
• Units: Use metric units (SI units) as fully as possible. Preferably give measurements of energy in kiloJoules or MegaJoules with kilocalories in parentheses (1 kcal = 4.186kJ). Use % throughout.
• Abbreviations: On first using an abbreviation place it in parentheses after the full item. Very common abbreviations such as FFA, RNA, need not be defined. Note these abbreviations: gram g; litre l; milligram mg; kilogram kg; kilojoule kJ; megajoule MJ; weight wt; seconds s; minutes min; hours h. Do not add ‘s’ for plural units. Terms used less than four times should not be abbreviated.

• Title page (excluding acknowledgements)
• Abstract
• Introduction
• Materials (or Subjects) and Methods
• Results
• Discussion
• Data Availability Statement
• Code Availability (if required)
• References
• Acknowledgments
• Author Contribution Statement
• Ethical Approval
• Competing Interests
• Figure legends
• Tables
• Figures

Authors must provide evidence of patient consent alongside their submission. Please note that when publishing patient details/images/videos, the consent form must state that these may be freely available on the internet and may be seen by the general public. Please consult the 'Informed Consent' section under Editorial Policies for more details.

Nomenclature Statement: Adherence to data nomenclature, sharing and clinical trial reporting, is mandatory. Authors must submit a separate ‘Related Manuscript File’ (for internal review) during submission providing details of gene and sequence variants studied. The journal's nomenclature guidance should be adhered to, please consult the Editorial Policies section for further details.

Cover Letter: Authors must provide a cover letter that includes the affiliation and contact information for the corresponding author. Authors should briefly discuss the importance of the work and explain why it is considered appropriate for the diverse readership of the journal. The cover letter should confirm the material is original research, has not been previously published and has not been submitted for publication elsewhere while under consideration. If the manuscript has been previously considered for publication in another journal, please include the previous reviewer comments, to help expedite the decision by the Editorial team.

Title Page: The title page should contain:

• Title of the paper - brief, informative, of 150 characters (including spaces) or less and should not make a statement or conclusion
• Authors should disclose the sources of any support received, for the work, in the form of grants and/or equipment and drugs.
• Full names of all the authors and their affiliations, including country, as well as the e-mail address of the corresponding author. If authors regard it as essential to indicate that two or more co-authors are equal in status, they may be identified by an asterisk symbol with the caption ‘These authors contributed equally to this work’ immediately under the address list.
• Consortia: For papers containing one or more consortia, all members of the consortium who meet the criteria for authorship must be listed individually as authors on the title page. The name of the consortia needs to also be on the title page and listed as an author (e.g. The BP Consortia). However, phrases such as “on behalf of” should not be used. If necessary, individual authors can be listed in both the main author list and as a member of a consortium. When submitting your manuscript via the online submission system, the consortium name should be entered as an author, together with the contact details of a nominated consortium representative. The Consortium should be mentioned in the Acknowledgements section, not as an Author, when it is made up of a group of people who do not meet authorship criteria. See here for further consortia formatting guidelines, which should be adhered to prior to acceptance.

Large Language Models (LLMs), such as ChatGPT, do not currently satisfy our authorship criteria. Notably an attribution of authorship carries with it accountability for the work, which cannot be effectively applied to LLMs. Use of an LLM should be properly documented in the Methods section (and if a Methods section is not available, in a suitable alternative part) of the manuscript.

Abstract: Articles, Reviews and Brief Communications must be prepared with an unstructured abstract designed to summarise the essential features of the paper in a logical and concise sequence. 3-6 keywords should also be included on this page.

Graphical Abstracts (optional): A graphical abstract, which summarizes the manuscript in a visual way, is designed to attract the attention of readers in the table of contents of the journal. The graphic should be submitted as a single file using a standard file format (.tiff, .eps, .jpg, .bmp, .doc, or .pdf.), it should be 9 cm wide x 5 cm high when printed at full scale and a minimum of 300 dpi. All graphical abstracts should be submitted with a white background and imagery should fill the available width, whenever possible. Colour graphical abstracts are encouraged and will be published at no additional charge. Textual statements should be kept to a minimum.

Introduction: The Introduction should assume that the reader is knowledgeable in the field and should therefore be as brief as possible but can include a short historical review where desirable.

Materials (Subjects) and Methods: This section should contain sufficient detail, so that all experimental procedures can be reproduced, and include references. Methods, however, that have been published in detail elsewhere should not be described in detail. Authors should provide the name of the manufacturer and their location for any specifically named medical equipment and instruments, and all drugs should be identified by their pharmaceutical names, and by their trade name if relevant.

Results: The Results section should briefly present the experimental data in text, tables or figures. Tables and figures should not be described extensively in the text.

Discussion: The Discussion should focus on the interpretation and the significance of the findings with concise objective comments that describe their relation to other work in the area. It should not repeat information in the results. The final paragraph should highlight the main conclusion(s), and provide some indication of the direction future research should take.

Data Availability Statement: Please include a statement at the end of your paper that tells readers where the data generated or analysed during this study can be found e.g. within the published article and its supplementary files, within a recognised repository, with a link to the data in said repository, or if additional data are available from the corresponding author on reasonable request.
Please see the Data Availability and Policy page for more information.

Code Availability: Please include a statement at the end of your paper that tells readers where the data generated or analysed during this study can be found e.g. within the published article and its supplementary files, within a recognised repository, with a link to the data in said repository, or if additional data are available from the corresponding author on reasonable request.

References: Only papers directly related to the article should be cited. Exhaustive lists should be avoided. References should follow the Vancouver format. In the text they must appear as numbers starting at one and at the end of the paper they should be listed (double-spaced) in numerical order corresponding to the order of citation in the text. Where a reference is to appear next to a number in the text, for example following an equation, chemical formula or biological acronym, citations should be written as (ref. X). Example “detectable levels of endogenous Bcl-2 (ref. 3), as confirmed by western blot”.
All authors must be listed for papers with up to six authors; for papers with more than six authors, the first six only must be listed, followed by et al. Abbreviations for titles of medical periodicals should conform to those used in the latest edition of Index Medicus. The first and last page numbers for each reference should be provided. Abstracts and letters must be identified as such. Papers in press may be included in the list of references.
Personal communications can be allocated a number and included in the list of references in the usual way or simply referred to in the text; the authors may choose which method to use. In either case authors must obtain permission from the individual concerned to quote his/her unpublished work.

Examples:
Journal article:
Neidlein, S, Wirth, R, Pourhassan, M. Iron deficiency, fatigue and muscle strength and function in older hospitalized patients. Eur J Clin Nutr. 2020; 75:456–463.

Journal article by DOI:
Kurotani K, Shinsugi C, Takimoto H. Diet quality and household income level among students: 2014 National Health and Nutrition Survey Japan. Eur J Clin Nutr. 2020; https://doi.org/10.1038/s41430-020-00794-1. 

Journal article, in press:
Gallardo RL, Juneja HS, Gardner FH. Normal human marrow stromal cells induce clonal growth of human malignant T-lymphoblasts. Int. J Cell Cloning (in press).

Complete book:
Atkinson K, Champlin R, Ritz J, Fibbe W, Ljungman P, Brenner MK (eds). Clinical Bone Marrow and Blood Stem Cell Transplantation. 3rd ed. Cambridge University Press, Cambridge, 2004.

Chapter in book:
Coccia PF. Hematopoietic cell transplantation for osteopetrosis. In: Blume KG, Forman SJ, Appelbaum FR (eds). Thomas' Hematopoietic Cell Transplantation. 3rd ed. Blackwell Publishing Ltd, Malden, 2004. pp 1443–1454.

Abstract:
Abstracts from the 2020 Annual Scientific Meeting of the British and Irish Hypertension Society (BIHS). J Hum Hypertens 34; 2020; 1–20

Website:
Kassambara A. rstatix: pipe-friendly framework for basic statistical tests. 2020. https://rpkgs.datanovia.com/rstatix/.

Online Document:
Doe J. Title of subordinate document. In: The dictionary of substances and their effects. Royal Society of Chemistry. 1999. www.rsc.org/dose/title of subordinate document. Accessed 15 Jan 1999.  

Acknowledgements: These should be brief, and should include sources of technical assistance, critical advice or other assistance, which contributed to the final manuscript.

Author Contributions: This section is mandatory. The individual contributions of authors to the manuscript should be specified in this section (for example JS designed experiments and helped write the manuscript; NAL contributed to data extraction and provided feedback on the report. Guidance and criteria for authorship can be found in the section on Authorship on the Editorial Policies page.

Funding: The funding section is mandatory. Authors must declare sources of study funding including sponsorship (e.g. university, charity, commercial organization) and sources of material (e.g. novel drugs) not available commercially. If no financial assistance was received in support of the study, please include a statement to this fact here.

Ethical Approval
Authors must provide a statement regarding ethical approval (see information on Human and Other Animal Experiments in the Editorial Policy section for further details). If ethical approval was not required, authors must provide an explanation of why it was not needed.

Competing Interests: Authors must declare whether or not there are any competing financial interests in relation to the work described. This information must be included at this stage and will be published as part of the paper, but must also be noted in the cover letter. Please see the Competing Interests section under Editorial Policies for detailed information.

Figure Legends: These should be brief, specific and appear on a separate manuscript page after the References section.

Tables: Tables should only be used to present essential data; they should not duplicate what is written in the text. It is imperative that any tables used are editable, ideally presented in Excel. Each must be uploaded as a separate workbook with a title or caption and be clearly labelled, sequentially. Please make sure each table is cited within the text and in the correct order, e.g. (Table 3). Please save the files with extensions .xls / .xlsx / .ods / or .doc or .docx. Please ensure that you provide a 'flat' file, with single values in each cell with no macros or links to other workbooks or worksheets and no calculations or functions.

Figures: Figures and images should be labelled sequentially and cited in the text. Figures should not be embedded within the text but rather uploaded as separate files. The use of three-dimensional histograms is strongly discouraged unless the addition of the third dimension is important for conveying the results. Composite figures containing more than three individual figures will count as two figures. All parts of a figure should be grouped together. Where possible large figures and tables should be included as supplementary material.
Detailed guidelines for submitting artwork can be found by downloading our Artwork Guidelines. Using the guidelines, please submit production quality artwork with your initial online submission. If you have followed the guidelines, we will not require the artwork to be resubmitted following the peer-review process, if your paper is accepted for publication.

Colour Charges
There is a charge if authors choose to publish their figures in colour in print publication (which includes the online PDF). VAT or local taxes will be added where applicable.
Colour charges will NOT apply to authors who choose to pay an article processing charge to make their paper Open Access.

Graphs, Histograms and Statistics

• Plotting individual data points is preferred to just showing means, especially where N<10
• If error bars are shown, they must be described in the figure legend
• Axes on graphs should extend to zero, except for log axes
• Statistical analyses (including error bars and p values) should only be shown for independently repeated experiments, and must not be shown for replicates of a single experiment
• The number of times an experiment was repeated (N) must be stated in the legend

Standard Abbreviations: Because the majority of readers will have experience in genetics and genomics, the journal will accept papers which use certain standard abbreviations without definition in the summary or in the text. Non-standard abbreviations should be defined in full at their first usage in the abstract, and again at the first usage in the text, in the conventional manner. If a term is used 1-4 times in the text, it should be defined in full throughout the text and not abbreviated.

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. The article must be complete and self-explanatory without the Supplementary Information, which is posted on the journal's website and linked to the article. Supplementary Information may consist of data files, graphics, movies or extensive tables. Please see our Artwork Guidelines for information on accepted file types.
Authors must submit supplementary information files in the FINAL format as they are not edited, typeset or changed, and will appear online exactly as submitted. When submitting Supplementary Information, authors are required to: 

• Include a text summary (no more than 50 words) to describe the contents of each file.
• Identify the types of files (file formats) submitted.

Please submit supplementary figures, small tables and text as a single combined PDF document. Tables longer than one page should be provided as an Excel or similar file type. For optimal quality video files please use H.264 encoding, the standard aspect ratio of 16:9 (4:3 is second best) and do not compress the video. Supplementary information is not copyedited, so please ensure that it is clearly and succinctly presented, and that the style and terminology conform to the rest of the manuscript, with any tracked-changes or Review mark-ups removed.

Please note: We do not allow the resupplying of Supplementary Information files for style reasons after a paper has been exported in production, unless there is a serious error that affects the science and, if by not replacing, it would lead to a formal correction once the paper has been published. In these cases we would make an exception and replace the file; however there are very few instances where a Supplementary Information file would be corrected post publication.

Video Summaries: EJHG allows authors to include video presentations as part of their publication in order to support and enhance their scientific research. Authors should upload these videos as 'Supplementary Material' upon submission of the final version of the manuscript or to the Editorial Office following acceptance, and can refer to these within the body of the text. This can be done in the same way you would upload any other supplementary information and the file should be clearly labelled 'Video Presentation'. Please take note of the technical requirements listed below. Videos supplied will be published online in the electronic version of your article.

Tips for presentation:

1. The video should introduce the topic of the article, highlight the main results and conclusions, discuss the current status and potential future developments in the field.
2. Please include a sentence or two to describe the file. This will accompany your video on the website
3. Write your script and practise first - explain any obscure terminology
4. Film in a quiet room against a plain (white if possible) background and ensure there is nothing confidential in view
5. Avoid using background music
6. Include figures, slides, video clips of the experiment etc. to help explain your methods and results. Please try to include a mixture of you talking to the camera and slides - it is nice for viewers to see your face at times
7. Keep figures simple; don't show raw data and ensure any text is legible. Do not include lots of small text or data that won't be legible in a small video player that's the size of a smart phone screen.
8. Please do not use images, music or insignia in your video for which you do not own the copyright or have documented permission from the copyright holder.

Technical requirements: Videos should be no more than 8 minutes long, maximum 30MB in size so that they can be downloaded quickly - the combined total size of all supplementary files must not exceed 150MB. Files should be submitted as .avi, .mov, .mp3, .mp4, .wav or wmf. Videos need to be in widescreen (landscape), ideally 16x9 but 4:3 is also acceptable with a resolution of at least 640 x 360 pixels.
Any videos that are not in the correct format will not be published. Files will be viewed by the editorial office for quality; however the onus for creating, uploading and editing the video falls on the author.

Subject Ontology: Choosing the most relevant and specific subject terms from our subject ontology will ensure that your article will be more discoverable and will appear on appropriate subject specific pages on nature.com, in addition to the journal’s own pages. Your article should be indexed with at least one, and up to four unique subject terms that describe the key subjects and concepts in your manuscript. Click here for help with this.