Instructions to authors

Please note that HMG now encourages authors to complete their copyright licence to publish form online.

Open Access Option for Authors

Please read these instructions carefully and follow them strictly to ensure that the review and publication of your paper is as efficient and quick as possible. The Editors reserve the right to return manuscripts that are not in accordance with these instructions.

All material to be considered for publication in Human Molecular Genetics should be submitted in electronic form via the journal's online submission system. Once you have prepared your manuscript according to the instructions below, instructions on how to submit your manuscript online can be found by clicking on this page.

• Scope
• Submission
• Format-free submission
• Editorial office
• Review of manuscripts
• Preparation of manuscripts
• Accepted manuscripts
• HMG advance access
• Misconduct
• Animal research
• Copyright
• Proofs
• Open Access option for authors

Scope

Human Molecular Genetics publishes papers of excellence, wide interest and broad significance in all aspects of human molecular genetics. The emphasis of the journal is on full research papers of any length required for concise presentation and discussion of the data. Succinct and carefully prepared papers are favoured in terms of impact as well as readability.

Areas of interest include the molecular basis of human genetic disease, genetics of polygenic diseases and traits, developmental genetics, neurogenetics, chromosome structure and function, non-coding RNA, chromatin re-modelling, molecular aspects of cancer genetics, epigenetics, stem cell biology particularly relevant to human disease - including the application of iPS cells, therapy of genetic disease, pharmacogenetics, biochemical genetics, advances in gene mapping, and functional genomics. Studies in model organisms are encouraged where they show novel insights into disease. Mutation reports are not normally considered unless they are of demonstrated functional significance and represent documentation of mutations in newly identified genes. Methodological papers are generally not considered within the scope of the journal unless the method is used to gain new biological insights or if it is obviously and immediately relevant to a broad genetics audience.

High impact and technically sound association studies will be published in the Association Studies section of the journal. The Association Studies section welcomes new, strongly supported associations to diseases or quantitative traits, genome-wide association studies of interesting traits or diseases in large enough sample sizes to add useful data to the existing literature, definitive replications of associations that are not yet well-established, convincing non-replications of associations with strong prior evidence of validity, or clarifications of well-studied associations where there have been ambiguous results to date. We will also welcome comprehensive exploration/fine-mapping and association testing at validated loci, extension of associated loci to previously unstudied ethnic groups that yield new insights, as well as studies of rare variants supported by association, segregation, and/or functional data. Compelling gene-gene and gene-environment interactions are also of interest. Mendelian randomisation studies adhering to STROBE-MR guidelines will only be considered if they advance biological/clinical understanding. Authors should complete the STROBE-MR checklist to upload with their submission and highlight the biological/clinical advances in understanding in their cover letter.

For large-scale or genome-wide genetic studies, we feel that widespread availability of the complete set of results is highly desirable. Authors of manuscripts describing new genome-wide association or similar data must indicate in their cover letter whether at least a minimal set of summary results (p value and direction of effect) will be made freely available for all variants, either as supplementary material, by being publicly posted, or by being deposited in a database that is accessible to researchers with minimal restrictions on access. Making these results available will not necessarily be required in all cases for acceptance of a manuscript for publication, but the availability of results after publication will be considered in decisions regarding publication. Accordingly, authors are strongly encouraged to make available complete lists of summary statistics for large scale genetic studies.

Sequencing studies in rare diseases may at times identify a small set of candidate genes where the standards for proof of causality (such as multiple private or de novo mutations in the same gene in unrelated cases) have not been met for any individual gene. We would still consider publication of manuscripts highlighting such candidate genes if the genetic evidence is strong and is accompanied by supportive functional data. Because the purpose of publishing these sorts of manuscripts is to highlight candidate genes that could be prioritized in future studies, the manuscript should clearly state that causality has not been definitively established and that additional studies are required. Furthermore, because these studies are not definitive, the impact (and likelihood of acceptance for publication) will be increased by making the variant calls and phenotypic description available in a database in a way that will permit access by other researchers.

The molecular analysis of other organisms such as yeast, fly, worm, zebrafish or mouse is also of interest where such studies are relevant to the understanding of the function of human genes. It is editorial policy not to publish Methods papers unless they include information of substantial biological significance.

There is considerable need to use computational biology to integrate other biological data types with genetic studies. We encourage contributions describing computational studies that generate provocative hypotheses for directing experimental research, as long as there is robust independent validation (experimentally or through computational analysis of truly independent data sets) of the computational results. By providing such hypotheses through the pages of Human Molecular Genetics, computational biology will improve its impact on genetics research.

Submission of Manuscripts

Submission of a paper implies that it reports unpublished work and that it is not under consideration for publication elsewhere. If previously published tables, illustrations or more than 200 words of text are to be included, then the copyright holder's permission must be obtained. Copies of any such permission letters should be included with the paper. Manuscripts should be submitted to the editors via the journal's on-line submission website. 

Authors will be asked to indicate whether their paper presents new human genetic association data - evidence of association between genetic variants, individually or in aggregate, with a human disease or trait.

Authorship

Human Molecular Genetics expects all published articles to contain clear and accurate attribution of authorship. It is the responsibility of the author to ensure that all authors that contributed to the work are fairly acknowledged and that the published author list accurately reflects individual contributions. Human Molecular Genetics supports the ICMJE definitions of authorship.

Manuscript Types

Original Articles

HMG publishes comprehensive reports and definitive research findings of interest to a broad audience of human molecular geneticists. We encourage inclusion of full experimental details, with as many display items (figures and tables) as required to tell the complete story.

Reviews

HMG publishes 1-2 special review issues each year. The papers contained within these special issues are fully invited by the guest editor of the issue. Beginning in 2022, HMG will accept submissions of unsolicited review articles. Please do not submit an unsolicited review paper without following these steps. Should you have a review topic you think would be a good fit for the journal, please send a proposal outlining the review along with the list of co-authors to [email protected] for review. The editors will then decide whether the topic would be suitable for submission to HMG. Note, agreement from the editors to submit your review article does not guarantee acceptance. The review article will still go through the journal’s formal peer review process.

Letters to the Editor

HMG welcomes Letters to the Editor that contribute constructively and substantively to scientific dialogue. Letters should address timely and important issues raised in articles recently published in HMG and should be no more than 900 words, should have no more than one display item, and no more than 3 authors. Note that HMG only considers Letters to the Editor that comment on papers previously published in the Journal. Letters may not contain unpublished data and the number of references should not exceed 10.

Research Letters

Research Letters should be descriptions of focused research findings. The findings should be of high quality, be novel, or have potential clinical impact, but should not be advanced or large enough to warrant publication of a complete original research manuscript. Research Letters should be no more than 1,000 words, should have no more than one display item, and typically no more than 3 authors and no more than 15 references. Research Letters do not require an abstract. The text should include an Introduction Methods, Results, and Discussion sections, but not labelled as such.

Format-Free Submission

Human Molecular Genetics manuscripts can now be submitted without being formatted into journal style. Manuscripts will need to be formatted for revision, after acceptance: please see Preparation of Manuscripts for details.

Editorial Office

Email: [email protected]

Once a manuscript has been accepted, please contact our Author Support Team ([email protected]) for author specific queries.

Review of Manuscripts

Papers will normally be reviewed within four weeks of submission. As part of the online submission process, authors are asked to suggest the names of four potential reviewers. Due to space restrictions and to the volume of high quality papers submitted, the Editors reserve the right to return immediately those papers that are unlikely to be competitive for space in the journal and/or those that do not conform to the general editorial philosophy and standards of Human Molecular Genetics.

Preparation of Manuscripts

Prepare the manuscript text using a word processing package (save in .doc or .rtf format). Articles should be subdivided into the following sequence of sections: Title Page, Abstract, Introduction, Results, Discussion, Materials and Methods, Acknowledgements, Conflict of Interest Statement, References, Legends to Figures, Tables and, finally, Abbreviations. Figures should be saved as separate high-resolution image files. Do not include Key Words or a Running Title in the manuscript. Please avoid the use of footnotes; use instead, and as sparingly as possible, parentheses within brackets. Number the pages using the page numbering feature of the word processing software. It is recommended that authors spell-check all files before submission.

Pre-Submission Technical Checks

In partnership with Cactus, we are offering authors free usage of their Paperpal Preflight tool pre-submission. This is an AI-driven tool that performs technical checks tailored to Human Molecular Genetics. Authors are given a markup of suggested corrections to match their paper to journal requirements. Before submission, we encourage authors to run their paper through this tool. Please note that this is not mandatory and suggested corrections are optional.

Authors also have the option to pay for additional language checking – again, this is not mandatory and all suggested corrections are optional.

Language Editing

Particularly if English is not your first language, before submitting your manuscript you may wish to have it edited for language. This is not a mandatory step, but may help to ensure that the academic content of your paper is fully understood by journal editors and reviewers. Language editing does not guarantee that your manuscript will be accepted for publication. Authors are liable for all costs associated with such services. A list of language editing companies can be found on the Language services page.

Title Page

The title should be short, specific and informative. The first name, initial(s), and surname of each author should be followed by his or her department, institution, city with postcode, and country. The fax, telephone number and Email address of the corresponding author should also be provided. With an understanding that genetics and genomics research is highly collaborative, it is certainly possible to list co-first or co-corresponding authors on the manuscript. For the purposes of communication with the Journal staff during submission, review, revision and publication, only one author is designated as the Corresponding Author. Any changes of address may be given in footnotes. A footnote stating 'The authors wish it to be known that, in their opinion, the first x authors should be regarded as joint First Authors' is permitted. Any deletions or additions to the author list after acceptance of the paper must be submitted in writing, signed by all authors, to the appropriate editorial office. New sequence accession numbers (DDBJ/EMBL/GenBank) should be listed on the title page.

Abstract

The second page of the manuscript should contain the Abstract, which must not exceed 250 words. The Abstract should be comprehensible to readers before they have read the paper, and reference citations must be avoided. It is essential that the Abstract clearly states the biological importance of the work described in the paper.

Materials and Methods

Names of suppliers should be given for materials used. Details of centrifugation should be given in g where possible; if centrifugation is given in r.p.m., the rotor must be specified.

Authors must include full structural details of compounds used, or refer to external sources where the structure is described.

Microarray Data

All authors must comply with the 'Minimal Information About a Microarray Experiment' (MIAME) guidelines published by the Microarray Gene Expression Data Society. HMG also requires submission of microarray data to the GEO or ArrayExpress databases, with accession numbers at or before acceptance for publication.

Genes / Diseases

All manuscripts must include HGNC-approved gene symbols, OMIM reference numbers for disorders, variant descriptions following HGVS nomenclature and Human Phenotype Ontology (HPO) terms/IDS describing phenotypes.

Describing variants

Because of the importance of the issue and the overall consensus on the rules, we have adopted an editorial policy that encourages compliance with the rules to describe sequence variants before manuscripts will be accepted and published (den Dunnen & Antonarakis, 2000, Hum.Mutat 15:7). The most current guidelines are summarized on the website of the Human Genome Variation Society. Examples of acceptable nomenclature are also provided. Important considerations include:

• vvariants should be described in the text and tables using DNA, RNA, and protein designations whenever appropriate.
• if alternative nomenclature schemes are commonly found in the literature, they may also be used in addition to approved nomenclature, but they must be defined clearly.
• authors should always include the GenBank Accession Number of the relevant reference gene sequence(s) used (e.g.: RefSeq NG_123456.2, NM_987654.3 or GenBank U654321.1), in the Materials and Methods section and as a footnote in tables listing mutations.

Acceptance and/or publication will be delayed when authors do not follow the guidelines properly. Authors are advised to check sequence variant descriptions using software tools (e.g. Mutalyzer using batch mode, all variants can be analyzed at once).

Data submission

Where ethically feasible, Human Molecular Genetics strongly encourages authors to make all data and software code on which the conclusions of the paper rely available to readers. We suggest that data be presented in the main manuscript or additional supporting files, or deposited in a public repository whenever possible. Information on general repositories for all data types, and a list of recommended repositories by subject area, is available under the Choosing where to archive your data heading.

In addition to the above data archives (found in the link above), other recommended repositories include:

For sequences: EMBL, DDBJ, GenBank (including Trace Archives (including SRA), European Nucleotide Archive (ENA), dbSNP, European Variation Archive (EVA), dbVar, DGVa)
For variants and phenotypes: ClinVar/ClinGen, Global Variome shared LOVD, Decipher
For association studies: dbGaP, EGA (European Genotyping Archive)
For micro-array data: ArrayExpress, GEO (Gene Expression Omnibus)
For proteins: ProteinDataBank, Biological Magnetic Resonance Databank
For protein interactions: DIP (Database of Interacting Proteins), IntAct
For molecular Interaction database proteomics/metabolomics: PRIDE, MetaboLights ancestry/forensics: mtDNA (EMPOP), Y-STRs (Y-HRD), autosomal STRs (STRIDER)

We support the recommendations of the Human Variome Project (Cotton RGH et al. 2007. Nat Genet. 39: 433).

Consequently, authors are required to submit all variants included in an article to a public database, preferably a gene variant database (LSDB), prior to acceptance.

Authors must confirm the status of database submission in their cover letter. In addition, authors should note in the manuscript (e.g., in the methods section) the database(s) to which they have submitted their variants and provide the URL. We encourage the use of widely accessible genetics databases as repositories for human gene mapping information, including loci (genes, fragile sites, DNA segments), and probes. Links to gene variant databases can be obtained from the Human Genome Variation Society web site or using the url "GeneSymbol".lovd.nl (e.g. TP53.lovd.nl).

It is understood that by publishing a paper in Human Molecular Genetics, the authors agree to make available to colleagues in academic (non-profit) research any of the cells, nucleic acids, antibodies, etc. that are not available from commercial suppliers and are required to substantiate the scientific conclusions of the paper.

Funding

Crossref Funding Data Registry
In order to meet your funding requirements authors are required to name their funding sources, or state if there are none, during the submission process. For further information on this process or to find out more about CHORUS, visit the CHORUS initiative.

Details of all funding sources for the work in question should be given in a separate section entitled 'Funding'. This should appear before the 'Acknowledgements' section.

The following rules should be followed:

• The sentence should begin: ‘This work was supported by …’
• The full official funding agency name should be given, i.e. ‘National Institutes of Health’, not ‘NIH’ (full RIN-approved list of UK funding agencies) Grant numbers should be given in brackets as follows: ‘[grant number xxxx]’
• Multiple grant numbers should be separated by a comma as follows: ‘[grant numbers xxxx, yyyy]’
• Agencies should be separated by a semi-colon (plus ‘and’ before the last funding agency)
• Where individuals need to be specified for certain sources of funding the following text should be added after the relevant agency or grant number 'to [author initials]'.

An example is given here: ‘This work was supported by the National Institutes of Health [AA123456 to C.S., BB765432 to M.H.]; and the Alcohol & Education Research Council [hfygr667789].’

References

1. These should be numbered in order of appearance in the text (in parentheses) and must be listed numerically in the reference list.
    
2. Journal titles and author initials should be properly abbreviated and punctuated. Abbreviate and italicize all journal titles. Punctuate ALL abbreviated words in journal titles, i.e. Hum. Mol. Genet. NOT Hum Mol Genet. Use proper spacing between author names and initials.
    
3. Type complete page numbers i.e. 345-349 NOT 345-9 or 345-49.
    
4. Volume number should be keyed in boldface.
    
5. Do not use issue numbers.
    
6. List 10 authors before adding et al.
    
7. Use commas (,) not colons (:) in the references.
    
8. Article titles of references are required.
    
9. If you use EndNote to facilitate referencing citations (not required for submission), this journal's style is available for use. However, if you are using an old version of EndNote (x6 and before) you will need to download the latest style from the EndNote style website.
    
10. If an automatic referencing system has been used in the preparation of the paper, the references must not be left embedded in the final text file submitted.
     
11. The citation of journals, books, multi-author books and articles published online should conform to the following examples:
    
    Gorecki,D.C., Monaco,A.P., Derry,J.M.J., Walker,A.P., Barnard,E.A. and Barnard,P.J. (1992) Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum. Mol. Genet. , 1 , 505-511.
    
    Francis,V. and Bastin,M. (2000) Gene targeting in rat embryo fibroblasts promoted by the polyomavirus large T antigen. Nucleic Acids Res. , in press.
    
    Maniatis,T., Fritsch,E.F. and Sambrook,J. (1982) Molecular Cloning: A Laboratory Manual . Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
    
    Huynh,T.V., Young,R.A. and Davis,R.W. (1988) DNA Cloning. In Glover,D.M. (ed.), DNA Cloning - A Practical Approach . IRL Press, Oxford, UK, Vol. 1, pp. 49-78.
    
    Qiao, D., Chen, W., Stratagoules, E. and Martinez, J. (May 19, 2000) Bile acid-induced activation of activator protein-1 requires both extracellular signal-regulated kinase and protein kinase C signaling. J. Biol. Chem. , 10.1074/jbc.M908890199
    
    Qiao, D., Chen, W., Stratagoules, E. and Martinez, J. (2000) Bile acid-induced activation of activator protein-1 requires both extracellular signal-regulated kinase and protein kinase C signaling. J. Biol. Chem. , 275 , 15090-15098. First published on May 19, 2000, 10.1074/jbc.M908890199
    
    Bernhagen, J., Elkine, B., Geiger, G., Tovar, G. and Vitzthum, F. (1999) Patent DE-198198889.2-44; PCT/WO/EP/99/03047.
     
12. References of the type Smith et al. (1989) should not be used in the text.
     
13. Personal communications (J.Jones, personal communication) must be authorized in writing by those involved, and unpublished data should be cited in the text as (unpublished data).
     
14. References to manuscripts submitted, but not yet accepted, should be cited in the text as (B.Jones and L.Smith, manuscript in preparation) and should not be included in the list of references.
     
15. Citations of submitted manuscripts should include all authors involved. Authors are encouraged to cite web URLs in parentheses at the appropriate mention in the text.

Figures

Minimum image resolution is 300 dpi at final size (1200 dpi for line art). Colour figures should be saved with CMYK settings. Each figure should be clearly labelled (Fig. 1, Fig. 2, etc.). They should all be cited in sequence in the main text.

Composite figures made by reorganizing different parts from the same or different gels/blots/exposures must be made explicit - clear dividing lines should be used to separate individual parts and the rationale for this arrangement must be explained in the legend. Presenting composite images as unedited originals, giving an impression that no reorganization has occurred, is unacceptable.

No specific region or feature within an image should be modified (i.e. moved, removed, introduced, enhanced or concealed). Brightness, contrast and colour balance adjustments are permitted if they are applied to the whole image and do not misrepresent or otherwise obscure the information provided. Disclose any nonlinear adjustments, such as changes to gamma settings, in the figure legend.

You should keep ready access to all original images, which should be high quality, unedited, uncropped and high resolution. These may be requested during peer review.

Figure accessibility and alt text

Incorporating alt text (alternative text) when submitting your paper helps to foster inclusivity and accessibility. Good alt text ensures that individuals with visual impairments or those using screen readers can comprehend the content and context of your figures. The aim of alt text is to provide concise and informative descriptions of your figure so that all readers have access to the same level of information and understanding, and that all can engage with and benefit from the visual elements integral to scholarly content. Including alt text demonstrates a commitment to accessibility and enhances the overall impact and reach of your work.  

Alt text is applicable to all images, figures, illustrations, and photographs. 

Alt text is only accessible via e-reader and so it won’t appear as part of the typeset article. 

Detailed guidance on how to draft and submit alt text. 

Illustrations

Figures should be saved as separate high-resolution image files without their captions (captions should be included with the text of the article). Minimum resolutions are 300 d.p.i. for colour or tone images, and 600 d.p.i. for line drawings. The preferred format is TIFF. Colour figures should be supplied in CMYK not RGB colours. Font-related problems can be avoided by using standard fonts such as Times Roman and Helvetica.

Wherever possible, figures should be submitted in their desired final size, to fit the width of a single column of text (86 mm) or a double column of text (180 mm), and to a maximum depth of 200 mm, thereby allowing space for the figure caption. Any lettering should be approximately 2 mm in height and should be in proportion to the overall dimensions of the figure. Photographs should be of sufficiently high quality with respect to detail, contrast and fineness of grain to withstand the inevitable loss of contrast and detail inherent in the printing process. Line drawings should have clear and sharp lines. Shading used on line drawings should be clear and distinctive; shades of grey will not reproduce well and small patches of white on an otherwise black background are likely to be lost on reproduction. Symbols used in figures should be limited to standard open and closed symbols (circles, squares, triangles, diamonds). Symbols cannot be generated in the legend and should be described rather than indicated by a symbol. Figures and legends should be intelligible without reading the text of the manuscript.

As part of the online submission process, authors may publish their figures in colour online only, and black and white in print. In order to publish figures in colour within the print journal as well as online, authors agree to pay colour figure charges of $650 per colour figure submitted for papers published under a standard license*. Please note that changes to figures after acceptance and during proof stage will not be allowed without permission from the Editors. Such changes may result in delays in publication of manuscripts. Orders from UK will be subject to the current UK VAT charge. For orders from the rest of the EU, we will assume that the service is provided for business purposes, please provide a VAT number for yourself or your institution and ensure you account for your own local VAT correctly.

*The cost of publishing your work Open Access in HMG includes the total cost of publishing, and no further colour figure charges for print will be incurred in addition to the APC.

Graphical abstracts

Authors are encouraged to submit a graphical abstract as part of the article, in addition to the text abstract. The graphical abstract should clearly summarize the focus and findings of the article, and will be published as part of the article online and in PDF. The graphical abstract should be submitted for peer review as a separate file, selecting the appropriate file-type designation in the journal’s online submission system. The file should be clearly named, e.g. graphical_abstract.tiff. See this page for guidance on appropriate file format and resolution for graphics. Please ensure graphical abstracts are in landscape format.

Note that graphical abstracts will be subject to any print reproduction charges that the journal levies for colour figures in print. Graphical abstracts published in colour online will incur no charge.

Acknowledgments

These should be included at the end of the text, before the reference list; not in footnotes or on the title page. Personal acknowledgements should precede those of institutions and agencies. Financial support for the work should be listed here.

Conflicts of Interest

At the point of submission, HMG’s policy requires that each author reveal any financial interests or connections, direct or indirect, or other situations that might raise the question of bias in the work reported or the conclusions, implications, or opinions stated - including pertinent commercial or other sources of funding for the individual author(s) or for the associated department(s) or organization(s), personal relationships, or direct academic competition. When considering whether you should declare a conflicting interest or connection please consider the conflict of interest test: Is there any arrangement that would embarrass you or any of your co-authors if it was to emerge after publication and you had not declared it?

As an integral part of the online submission process, Corresponding authors are required to confirm whether they or their co-authors have any conflicts of interest to declare, and to provide details of these. If the Corresponding author is unable to confirm this information on behalf of all co-authors, the authors in question will then be required to submit a completed Conflict of Interest form  when submitting their paper or at Revision stage. If you have any queries, please contact the Editorial Office - [email protected]. It is the Corresponding author’s responsibility to ensure that all authors adhere to this policy.

If the manuscript is published, Conflict of Interest information will be communicated in a statement in the published paper.

Author Toll Free Link and Discounts

All corresponding authors will be provided with a free access link to their article upon publication.  The link will be sent via email to the article’s corresponding author who is free to share the link with any co-authors.  Please see OUP’s Author Self-Archiving policy for more information regarding how this link may be publicly shared depending on the type of license under which the article has published.  

All authors have the option to purchase up to 10 print copies of the issue in which they publish at a 50% discount. Orders should be placed through this order form. Orders must be made within 12 months of the online publication date.

Preprint policy

Authors retain the right to make an Author’s Original Version (preprint) available through various channels, and this does not prevent submission to the journal. For further information see our Online Licensing, Copyright and Permissions policies. If accepted, the authors are required to update the status of any preprint, including your published paper’s DOI, as described on our Author Self-Archiving policy page.

Abbreviations

Try to restrict the use of abbreviations to SI symbols and those recommended by the IUPAC. Abbreviations, used for copy editing purposes only, should be defined and listed on a page separate from the body of the manuscript. Standard units of measurement and chemical symbols of elements may be used without definition within the body of the paper. Acronyms formed from phrases are unacceptable.

Conventions and Nomenclature

In general, the Journal follows the conventions of the CBE Style Manual (Council of Biology Editors, Bethesda, MD, 1983, 5th edn). Follow Chemical Abstracts and its indexes for chemical names. For guidance in the case of biochemical terminology follow the recommendations issued by the IUPAC-IUB Commission on Biochemical Nomenclature, as given in Biochemical Nomenclature, published by the Biochemical Society, UK.

For human genes, use genetic notation and symbols approved by the HUGO Nomenclature Committee. Approved gene symbols should be obtained prior to submission from the HUGO Nomenclature Committee, [email protected]. For nomenclature guidelines, see White et al. , 'Guidelines for Human Gene Nomenclature' [Genomics , 45 , 468-471 (1997)]. The Gene Name Proposal form may be completed on the Nomenclature Web page. Use ISCN nomenclature for cytogenetics notation [Mitelman, F. (ed.) ISCN 1995: An International System for Human Cytogenetic Nomenclature, S. Karger, Basel]. Human gene names and loci should be written in uppercase italics and Arabic numerals. Protein products are not italicized.

For mouse strain and genetic nomenclature, refer to the International Committee on Standardized Genetic Nomenclature for Mice. New symbols and names for genes should be obtained prior to submission through the online symbol registry form.

Accession Numbers

Authors should be aware that all new sequence information, including that which extends a previously determined sequence already present in the database (and which already has an accession number), must be submitted to any of the three major collaborative databases - DDBJ, EMBL, GenBank - for a new accession number. It is only necessary to submit to one database, without regard to where the sequence data will be published. Data are exchanged between DDBJ, EMBL and GenBank on a daily basis. This number must be provided before acceptance of the manuscript. Accession numbers from the major collaborative databases should be cited in the text as (GenBank accession no. AF149731). Other databases should be identified where used. Accession numbers should be listed on the title page.

Supplementary Material

Only directly relevant experimental data should be included in the full text of manuscripts. Supporting data should be submitted for review as supplementary material, in a separate file from the manuscript, for publication online only. Material that has not been peer-reviewed will be made available only through a link to the author's home page, at the discretion of the Editor. Supplementary Material can be published in these formats: .txt, .htslp, .shtml, .html, .htm, .jpg, .jpeg, .gif, .mov, .mpg, .avi, .pdf, .xls, .zip, .doc, .rtf, .tif, .dtl.

Revised Manuscripts

Revised manuscripts must normally be submitted within four weeks of the author's receipt of the referees' reports. Depending on the extent of the revisions, revised manuscripts returned after four weeks may be considered as new submissions subject to re-review. Revised manuscript files should be submitted via the journal's online submission website where a slot for the paper has been already created. Label the file with the manuscript number and first author last name. Additionally, if you have not done so at Submission stage, please upload a Conflict of Interest form (see Conflicts of Interest).

HMG Advance Access

HMG Advance Access is the journal's system for the early online publication of articles ahead of the printed issue. The final copyedited, typeset, corrected version is published online ahead of print. Appearance in Advance Access constitutes official publication. The Advance Access version can be cited by a unique DOI (digital object identifier) and it remains available and citable after the final version is published as part of the issue.

Misconduct

Authors should observe high standards with respect to research integrity and publication ethics as set out by the Committee on Publication Ethics (COPE). Falsification or fabrication of data including inappropriate image manipulation, plagiarism, including duplicate publication of the author's own work without proper citation, and misappropriation of work are all unacceptable practices.  Allegations of ethical misconduct are treated seriously and will be investigated in accordance with the relevant COPE guidance.

If misconduct has been established beyond reasonable doubt, this may result in one or more of the following outcomes, among others:

• If a submitted manuscript is still under consideration, it may be rejected and returned to the author.
• If a paper has already been published online, depending on the nature and severity of the infraction, either a correction notice will be published and linked to the paper, or retraction of the paper will occur, following the COPE Retraction Guidelines.
• The relevant party’s institution(s) and/or other journals may be informed.

Manuscripts submitted to the Journal may be screened with plagiarism-detection software. Any manuscript may be screened, especially if there is reason to suppose that part or all the of the manuscript has been previously published.

COPE defines plagiarism as “when somebody presents the work of others (data, words or theories) as if they were their own and without proper acknowledgment.”

COPE defines redundant/overlapping publication as “when a published work (or substantial sections from a published work) is/are published more than once (in the same or another language) without adequate acknowledgment of the source/cross-referencing/justification,
or
when the same (or substantially overlapping) data is presented in more than one publication without adequate cross-referencing/justification, particularly when this is done in such a way that reviewers/readers are unlikely to realise that most or all the findings have been published before.”

COPE defines citation manipulation as “behaviours intended to inflate citation counts for personal gain, such as: excessive self-citation of an authors’ own work, excessive citation to the journal publishing the citing article, and excessive citation between journals in a coordinated manner.”

Data fabrication is defined as intentionally creating fake data or misrepresenting research results. An example includes making up data sets.

Data falsification is defined as manipulating research data with the purpose of intentionally giving a false representation. This can apply to images, research materials, equipment, or processes. Examples include cropping of gels/images to change context and omission of selected data.

If notified of a potential breach of research misconduct or publication ethics, the Journal editor and editorial office staff may inform OUP and/or the author’s institutional affiliation(s).

Animal research

The ARRIVE guidelines  must be followed when preparing manuscripts for Human Molecular Genetics. Experiments with animals should be performed in accordance with the legal requirements of the relevant local or national authority and the name of the authorizing body should be stated in the paper. Procedures should be such that experimental animals do not suffer unnecessarily. The text of the paper should include experimental details of the procedure and of anaesthetics used. Work that involves animal behaviour should follow ASAB's Guidelines for the treatment of animals in behavioural research and teaching.

The journal reserves the right to reject papers where the ethical aspects are, in the Editor's opinion, open to doubt.

Copyright

Copyright of any article published in HMG will belong to the author or their designee. However, it is a condition of publication in the journal that authors grant an exclusive licence to publish to Oxford University Press. This ensures that requests from third parties to reproduce articles are handled efficiently and consistently and allows the article to be as widely disseminated as possible. As part of the licence agreement, authors may use their own material in other publications provided that the Journal is acknowledged as the original place of publication and Oxford University Press as the Publisher. Upon receipt of accepted manuscripts at Oxford Journals authors will be invited to complete an online copyright licence to publish form.

Authors are reminded that it is their responsibility to comply with copyright laws. It is essential to ensure that no part of the text or illustrations have appeared or are due to appear in other publications, without prior permission from the copyright holder. Signed patient consent forms must be obtained for recognizable photographs. Submission of the manuscript will be taken to indicate the authors compliance with these conditions.

Proofs

Authors will receive a PDF file of the complete paper by email. In the interest of speed, corrections must be returned within 48 hours.

Open Access Option for Authors

HMG offers the option of publishing under either a standard licence or an open access licence. Please note that some funders require open access publication as a condition of funding. If you are unsure whether you are required to publish open access, please do clarify any such requirements with your funder or institution.

Should you wish to publish your article open access, you should select your choice of open access licence in our online system after your article has been accepted for publication. You will need to pay an open access charge to publish under an open access licence.

Details of the open access licences and open access charges.

OUP has a growing number of Read and Publish agreements with institutions and consortia which provide funding for open access publishing. This means authors from participating institutions can publish open access, and the institution may pay the charge. Find out if your institution is participating.

Preprint Policy

Authors retain the right to make an Author’s Original Version (preprint) available through various channels, and this does not prevent submission to the journal. For further information see our Online Licensing, Copyright and Permissions policies. If accepted, the authors are required to update the status of any preprint, including your published paper’s DOI, as described on our Author Self-Archiving policy page.

ORCID

HMG requires submitting authors to provide an ORCID iD at submission to the journal. More information on ORCID and the benefits of using an ORCID iD is available. If you do not already have an ORCID iD, you can register for free via the ORCID website.

Manuscript Transfer

HMG sends and receives transfers from other journals on related topics published by Oxford University Press. All transfers are sent according to the choice of the authors. Reviewer reports and the original decision letter are included in the transfer, but the reviewer identities are not shared.

Transferred manuscripts may be sent out for additional peer review, and a decision will be made on the manuscript based on the feedback from all reviewers and the judgment of the editorial team.