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Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including: germline cancer genetics; clinical manifestations of genetic disorders; applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.

Journal of Medical Genetics adheres to the highest standards concerning its editorial policies on publication ethics, scientific misconduct, consent and peer review criteria. The journal follows guidance produced by bodies that include the Committee on Publication Ethics (COPE), the World Association of Medical Editors (WAME) and the International Committee of Medical Journal Editors (ICMJE).To view all BMJ Journal policies please refer to the BMJ Author Hub policies page.

We take seriously all possible misconduct. If an Editor, author or reader has concerns that a submitted article describes something that might be considered to constitute misconduct in research, publication or professional behaviour they should forward their concerns to the journal. The publisher will deal with allegations appropriately.

From January 2023, Journal of Medical Genetics will publish solely online. This change brings significant climate and environmental benefits. Transitioning to online-only means we can completely eliminate the substantial use of energy, water and chemicals that is involved in the complex production and distribution process of a print journal. Most of our readers already use our website jmg.bmj.com for most of their needs, the website after all offers readers a far richer experience with more content overall. We hope that this change does not cause too much inconvenience for our readers as we move towards a greener future for Journal of Medical Genetics.

Journal of Medical Genetics is a Plan S compliant Transformative Journal. Transformative Journals are one of the compliance routes offered by cOAlition S funders, such as Wellcome, WHO and UKRI. Find out more about Transformative Journals and Plan S compliance on our Author Hub.

Articles are published under an exclusive licence or non-exclusive licence for UK Crown employees or where BMJ has agreed CC BY applies. For US Federal Government officers or employees acting as part of their official duties, the terms are as stated in accordance with our licence terms. Authors or their employers retain copyright. Open access articles can be reused under the terms of the relevant Creative Commons licence to facilitate reuse of the content; please refer to the Journal of Medical Genetics Author Licence for the applicable Creative Commons licences. More information on copyright and authors’ rights.

When publishing in Journal of Medical Genetics, authors choose between three licence types – exclusive licence granted to BMJ, CC-BY-NC and CC-BY (Creative Commons open access licences require payment of an article processing charge). As an author you may wish to post your article in an institutional or subject repository, or on a scientific social sharing network. You may also link your published article to your preprint (if applicable). What you can do with your article, without seeking permission, depends on the licence you have chosen and the version of your article. Please refer to the BMJ author self archiving and permissions policies page for more information.

Preprints foster openness, accessibility and collaboration by allowing authors to make their findings immediately available to the research community and receive feedback on an article before it is submitted to a journal for formal publication. BMJ fully supports and encourages the archiving of preprints in any recognised, not-for-profit server such as medRxiv. BMJ does not consider the posting of an article in a dedicated preprint repository to be prior publication.

Preprints are reports of work that have not been peer-reviewed; Preprints should therefore not be used to guide clinical practice, health-related behaviour or health policy. For more information, please refer to our Preprint policy page.

Articles submitted to Journal of Medical Genetics are subject to peer review. The journal operates single anonymised peer review whereby the names of the reviewers are hidden from the author; this is the traditional method of reviewing and is the most common. When a paper has been submitted from the Editor or Associate Editors’ departments, they have no role in the reviewing or decision making process. For more information on what to expect during the peer review process please refer to BMJ Author Hub – the peer review process. BMJ requests that all reviewers adhere to a set of basic principles and standards during the peer-review process in research publication; these are based on the COPE Ethical Guidelines for Peer Reviewers. Please refer to our peer review terms and conditions policy page.

BMJ is committed to transparency. Every article we publish includes a description of its provenance (commissioned or not commissioned) and whether it was internally or externally peer reviewed. Plagiarism is the appropriation of the language, ideas or thoughts of another without crediting their true source and representation of them as one’s own original work. BMJ is a member of CrossCheck by CrossRef and iThenticate. iThenticate is a plagiarism screening service that verifies the originality of content submitted before publication. BMJ runs manuscripts through iThenticate during the peer review process. Authors, researchers and freelancers can also use iThenticate to screen their work before submission by visiting www.ithenticate.com.

BMJ is committed to ensuring that all good quality research is published. Our article transfer service helps authors find the best journal for their research while providing an easy and smooth publication process. If authors agree to transfer their manuscript, all versions, supplementary files and peer reviewer comments are automatically transferred; there is no need to resubmit or reformat.

Authors who submit to the Journal of Medical Genetics and are rejected will be offered the option of transferring to another BMJ Journal, such as BMJ Open. Please note that the article transfer service does not guarantee acceptance but you should receive a quicker initial decision on your manuscript. Contact the Transfer Editor at transfers@bmj.com

Journal of Medical Genetics patient consent and confidentiality policy is based on the UK’s data protection law and the English common law of confidentiality. UK authors should be aware that the General Medical Council has extensive guidance on patient consent and confidentiality and that our policy is in line with GMC advice. Any article that contains personal medical information about an identifiable living individual requires the patient’s explicit consent before we can publish it. We will need the patient to sign our consent form, which requires the patient to have read the article. If the patient has not seen a final version of the manuscript to be submitted to BMJ, the form must be amended to make clear what the patient has seen and that they have agreed to publication without having seen the final version of the manuscript. The consent form is available in multiple languages and the author must ensure that the form is in a language that the patient understands.

Our policy on obtaining consent for publication of pictures or videos of patients is a subset of our general policy on patient confidentiality. If there is any chance that a patient may be identified from a photograph or other static or moving image, or from its legend or accompanying text, we need the patient’s written consent to publication by BMJ. For more information on our patient consent and confidentiality policies and to download a form please refer to the BMJ Author Hub policies page.

All BMJ journals require a Data Availability Statement for any submitted research articles. The requirements for data sharing is dependent on the policy the Journal adopts. Journal of Medical Genetics adheres to BMJ’s Tier 2 data sharing policy:

• We strongly encourage that data generated by your research that supports your article be made available as soon as possible, wherever legally and ethically possible.
• We also require data from clinical trials to be made available upon reasonable request and to adhere to ICMJE guidelines, we require that a data sharing plan must be included with trial registration for clinical trials that begin enrolling participants on or after 1st January 2019. Changes to the plan must be noted in the Data Availability Statement and updated in the registry record.

All data that are publicly available and used in the writing of an article should be cited in the text and the reference list – whether they are data generated by the author(s) or by other researchers. Data citations should include [dataset] as a prefix immediately before the reference, so we can properly identify it as a data reference. More information about how to cite data is available on our data sharing policy. On submission, authors are asked to select at least one of the standardised Data Availability Statement options and to supplement these statements with additional information. These statements will be published under the header ‘Data Availability Statement’ within the footnotes section of the final published article. Please see our data sharing policy for more information about the requirements for data sharing and guidance on what supplementary information you should provide.

Journal of Medical Genetics mandates ORCID iDs for the submitting author at the time of article submission; co-authors and reviewers are strongly encouraged to also connect their ScholarOne accounts to ORCID. We strongly believe that the increased use and integration of ORCID iDs will be beneficial for the whole research community.

Please find more information about ORCID and BMJ’s policy on our Author Hub.

For human genes, use genetic notation and symbols approved by the HUGO Gene Nomenclature Committee (HGNC). Approved gene symbols may be obtained prior to submission. For mutation nomeclature please use the nomenclature guidelines suggested by the Human Genome Variation Society

MIM numbers should be listed in the text, but not in the abstract, after the first mention of all disorders and genes, but not proteins. Example: adrenal hypoplasia congenita (AHC [MIM: 300200]). In the Web Resources section, only the URL for the OMIM database, but not any individual MIM numbers, should be noted. Our preferred website listing is as follows: OMIM.

Documenting variation in our genomes is important for research and clinical care; accuracy in the description of DNA sequence variants is therefore essential. Journal of Medical Genetics now requires articles describing variant(s) to be compliant with The Human Genome Variation Society (HGVS) nomenclature recommendations. Compliance with HGVS nomenclature must be verified by:

• Using batch validation tools such as the Mutalyzer program or VariantValidator which provide documentation certifying validation, or
• Submitting to an existing online database that ensures nomenclature compliance, such as ClinVar or Leiden Open Variation Database (LOVD), prior to publication. These databases assign unique IDs to sequences. Journal of Medical Genetics strongly encourages authors to share DNA sequence variant data to online databases where possible.

On submission, authors are required to upload an excel file(s) generated by verification tools or a spreadsheet listing the variants and their specific IDs. Files can be uploaded using the file designation ‘DNA Variant HGVS Nomenclature Verification’. Authors are responsible for the accuracy of the variant description in their articles and will be required to confirm on submission that all variants reported conform to HGVS criteria.

Important considerations For clear and unambiguous documentation, variant descriptions should be:

• Described in the text and tables using both DNA and protein designations whenever appropriate.
• Reference sequences must be used to report sequence variants. Authors should always include the Accession and Version Number of the relevant reference sequence(s) (e.g., RefSeq NM_003002.3, LRG_9t1, or GenBank NC_000011.10) in the Methods section and as a footnote in any table listing variants.
• 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 and unambiguously (e.g., F5 p.Arg534Gln and factor V Leiden).
• Standard HGVS nomenclature using “g.” annotation and identifying the genome build must be used for noncoding variants, including those variants identified in genome‐wide association studies (GWAS; e.g., NC_000017.11:g.50201450C>T). Genomic location identifiers from dbSNP may be added, in addition to approved nomenclature, if the specific nucleotide change is also included.
• The latest nomenclature updates, examples of acceptable nomenclature and guidance concerning reference sequences are detailed within the HGVS recommendations.

During submission, authors can choose to have their article published open access for 3,090 GBP (exclusive of VAT for UK and EU authors). Publishing open access has multiple benefits including wider reach, faster impact and increased citation and usage. There are no submission, page or colour figure charges.

If authors choose to publish their article open access, an APC waiver may be available. Before applying for an APC waiver please consider: (1) Does your institution have an open access agreement with BMJ? If it does, then this may cover all or part of the APC for your article. Check BMJ’s open access agreements page to find out whether your institution is a member and what discounts you may be entitled to. (2) Have you received funding from a funder with an open access mandate or policy that covers paying APCs? If so, BMJ expects that the APC will be paid in full. If neither (1) nor (2) above apply then consider (3) Are all the authors of your article based in low-income countries*? If so, you are eligible to apply for a full or partial waiver from BMJ. Visit our author hub to learn more about our waivers policy and how to request one. Please note that regardless of the funding situation, authors can still choose to publish with us at no cost, and articles will be made available to our subscribers. *This list is reviewed annually and is based upon HINARI Core Offer Groups A and B, and the World Bank Country and Lending Groups.

A rapid response is a moderated but not peer reviewed online response to a published article in Journal of Medical Genetics; it will not receive a DOI and will not be indexed. Find out more about responses and how to submit a response.

Please review the below article type specifications including the required article lengths, illustrations, table limits and reference counts. The word count excludes the title page, abstract, tables, acknowledgements, contributions and references. Manuscripts should be as succinct as possible. For further support when making your submission please refer to the resources available on the BMJ Author Hub. Here you will find information on writing and formatting your research through to the peer review process and promoting your paper. You may also wish to use the language editing and translation services provided by BMJ Author Services. If your article is accepted you can take advantage of BMJ’s partnership with Kudos, a free service to help you maximise your article’s reach.

Original research represents a substantial body of laboratory or clinical work. Research reviews that systematically synthesise evidence (e.g. Systematic reviews, Meta-analysis, Scoping reviews, Mixed methods reviews, etc) should be submitted as Systematic reviews. Please include the key messages of your article after your abstract using the following headings. This section should be no more than 3-5 sentences and should be distinct from the abstract; be succinct, specific and accurate.

• • • What is already known on this topic – summarise the state of scientific knowledge on this subject before you did your study and why this study needed to be done
    • What this study adds – summarise what we now know as a result of this study that we did not know before
    • How this study might affect research, practice or policy – summarise the implications of this study

This will be published as a summary box after the abstract in the final published article.

Word count: up to 4,000: ‘Introduction’, ‘Methods’, ‘Results’, ‘Discussion’ Abstract: up to 250: ‘Background’, ‘Methods’, ‘Results’, ‘Conclusion’ Tables/illustrations: up to 6 References: up to 50

This article type includes all research reviews that systematically synthesise evidence (e.g. Systematic reviews, Meta-analysis, Scoping reviews, Mixed methods reviews, etc). Please include the research type in your title to make the nature of your study clear.

Please see Original research for more guidance on article requirements.

Short reports are brief articles presenting laboratory or clinical work, collected case reports, or single case reports of clinical or scientific significance. Reports of single mutations at loci which have already been documented will be published only if they are of unusual clinical or biological interest.

Word count: up to 2,000 Summary: up to 200 Tables/Illustrations: up to 2 References: up to 20

Authors are welcome to discuss possible topics for review directly with the Editor. Research reviews that systematically synthesise evidence (e.g. Systematic reviews, Meta-analysis, Scoping reviews, Mixed methods reviews, etc) are classified by the journal as Systematic reviews and must be submitted as such.

Word count: up to 5,000 Summary: up to 250 Tables/Illustrations: up to 5 References: up to 100

Brief communication articles include brief descriptions of significant clinical or laboratory findings. Brief communications should begin with a referenced paragraph (limit: 100 words) in lieu of an abstract, stating the purpose of the study and the main results without methodological details. Subheadings should not be used.

Word count: up to 1,000 Tables/Illustrations: up to 2 References: up to 10

Commentaries on Original research articles published in JMG.

Word count: up to 2,000 Tables/Illustrations: up to 3 References: up to 25

The BMJ Publishing Group journals are willing to consider publishing supplements to regular issues. Supplement proposals may be made at the request of:

• The journal editor, an editorial board member or a learned society may wish to organise a meeting, sponsorship may be sought and the proceedings published as a supplement.
• The journal editor, editorial board member or learned society may wish to commission a supplement on a particular theme or topic. Again, sponsorship may be sought.
• The BMJPG itself may have proposals for supplements where sponsorship may be necessary.
• A sponsoring organisation, often a pharmaceutical company or a charitable foundation, that wishes to arrange a meeting, the proceedings of which will be published as a supplement.

In all cases, it is vital that the journal’s integrity, independence and academic reputation is not compromised in any way.

For further information on criteria that must be fulfilled, download the supplements guidelines. When contacting us regarding a potential supplement, please include as much of the information below as possible.

• Journal in which you would like the supplement published
• Title of supplement and/or meeting on which it is based
• Date of meeting on which it is based
• Proposed table of contents with provisional article titles and proposed authors
• An indication of whether authors have agreed to participate
• Sponsor information including any relevant deadlines
• An indication of the expected length of each paper Guest Editor proposals if appropriate