- For authors
- Peer reviewed
- Open access · CC BY 4.0
Instructions for Authors
How to prepare and submit a manuscript to the Journal of Hereditary Diseases: submission routes, article types, manuscript structure, reporting standards, ethics statements and fees.
Submission routes
- Primary route
ManuscriptZone
The publisher's online submission and review system. Register or sign in, choose the Journal of Hereditary Diseases and upload the manuscript files.
- Alternative route
Simple manuscript submission form
A single-page form that opens with the Journal of Hereditary Diseases selected.
- Assisted route: editorial email
[email protected]
For authors who are unable to use either online route. Send the manuscript files with a cover letter to the editorial office.
Authors must use only one submission route for the same manuscript.
Article types
JHD publishes the article types below. Requirements depend on the format: hypotheses, outcomes, power calculations and a Methods and Results structure apply where the design calls for them. The scope of each type is set out in the Aims and Scope.
Original Research
Empirical clinical, laboratory, computational and population studies of inherited disease, including genotype-phenotype, natural-history, diagnostic, therapeutic and counseling studies.
- Abstract
- Structured: Background, Methods, Results, Conclusions.
- Main text
- Introduction, Methods, Results, Discussion, Conclusions. State the research question and, where applicable, the hypotheses, primary and secondary outcomes and the sample-size rationale. Describe recruitment and inclusion criteria, sample handling, the assay or sequencing workflow, variant-calling and interpretation criteria, and how uncertain findings were handled.
- Reporting
- The guideline for the design, for example STROBE, STREGA for genetic association studies, STARD or CONSORT.
Review
Topical syntheses of the evidence on hereditary disorders, their mechanisms, diagnosis or management.
- Abstract
- Brief, unstructured, or structured as suits the review.
- Main text
- Introduction; thematic sections with descriptive headings; conclusions and open questions. Describe how the literature was identified and selected.
- Reporting
- Reference the evidence for each claim; PRISMA-ScR for scoping reviews.
Systematic Review and Meta-Analysis
Systematic syntheses of evidence on a defined question about inherited disease, with or without meta-analysis.
- Abstract
- Structured.
- Main text
- Introduction; Methods (eligibility criteria, information sources and the full search strategy, study selection, data extraction, risk-of-bias assessment and synthesis); Results with a flow diagram; Discussion. Give the protocol registration, for example in PROSPERO, where applicable.
- Reporting
- PRISMA 2020; PRISMA-ScR for scoping reviews.
Case Report or Case Series
An individual patient, a family or a short series with a lesson for diagnosis, management or understanding of an inherited condition, including reports of new variants and genotype-phenotype findings. Family and trio studies are submitted in this type.
- Abstract
- Brief, unstructured.
- Main text
- Introduction; case presentation, with a pedigree and timeline where useful; genetic findings, with the gene, transcript, variant and classification; discussion of the relevance to existing knowledge. Hypotheses and power calculations do not apply.
- Reporting
- CARE. Consent for publication from the patient or a legal guardian, or a waiver documented by the ethics committee, where applicable; identifying details removed.
Brief Communication
A concise report of a focused or preliminary genetic or diagnostic finding.
- Abstract
- Brief, structured.
- Main text
- A condensed Introduction, Methods, Results and Discussion centered on the main finding.
- Reporting
- As for Original Research, where applicable.
Editorial or Commentary
An evidence-based perspective on current research, clinical practice or policy in inherited disease, or on a published article.
- Abstract
- Brief, unstructured.
- Main text
- Free structure with descriptive headings; claims supported by cited evidence and conclusions proportionate to it. Methods and Results sections are not required.
- Reporting
- Reference the evidence for each claim.
Letter to the Editor
A brief response to an article published in JHD, or a short observation relevant to inherited disease.
- Abstract
- None.
- Main text
- Short text without section headings and with a small number of references. A letter about a published article cites it in full, and its authors may be invited to reply.
- Reporting
- Reference the article or evidence discussed.
Length. There are no fixed length limits for any article type; manuscripts should be concise and proportionate to their content.
Choosing a type. Where a manuscript sits between types, choose the closest type and explain the choice in the cover letter; the editors confirm the classification. A family or trio study is classified as a Case Report or Case Series, and a scoping review as a Review or a Systematic Review and Meta-Analysis.
Preparing the manuscript
These requirements apply to every article type. The structure of the main text follows the guidance for the type above.
- Files
- The main text as an editable word-processing file (for example, Microsoft Word), with figures, tables that cannot be edited in the text, and supplementary material supplied as separate files.
- Title page
- A concise, informative title that names the condition or genetic mechanism studied; full names, affiliations and ORCID iDs (recommended) of all authors; and the corresponding author's contact details.
- Double-blind review
- For double-blind review, remove author names, affiliations, acknowledgments, funding details, institution names, and other identifying information from the reviewer manuscript. Provide identifying information separately in the title-page file or submission form.
- Abstract
- As set for the article type. Structured abstracts use the headings Background, Methods, Results and Conclusions.
- Keywords
- A short list of specific, searchable terms, including disease names, gene symbols where relevant and diagnostic method terms.
- Statistics
- Describe statistical methods in enough detail for replication; report effect estimates with confidence intervals, give exact p-values where statistical tests are used, and name the software and version. Describe sample-size rationale and correction for multiple testing where applicable. For prediction models, report training and test separation and validation.
- Declarations
- Author contributions (CRediT), funding, conflicts of interest, ethics approval and consent where applicable, data availability and any use of AI tools.
- Cover letter
- States the article type and the relevance of the work to inherited disease, confirms that the manuscript is not under consideration elsewhere, discloses any earlier report of the same patients, families or variants, and notes any preprint and any request for double-blind review.
- Language
- Clear English, with abbreviations defined at first use.
Genetic data and nomenclature
Consistent notation lets readers and databases interpret variants without ambiguity.
- Genes and variants
- Use official gene symbols (HGNC) and describe variants with Human Genome Variation Society (HGVS) nomenclature, giving the reference sequence or transcript and the genome build.
- Classification
- State the criteria used to classify variants, for example the ACMG/AMP standards, and explain how uncertain findings were handled. Provide rule definitions where an internal system is used.
- Confirmation
- Report whether results were confirmed by an independent method and how segregation in the family was assessed.
- Bioinformatics
- Report software names and versions, database references and core parameters. For custom scripts, provide a repository link or supplementary code that allows independent validation.
- Pedigrees
- Draw pedigrees with standard symbols and a legend, readable in both PDF and HTML, and remove information that could identify family members.
- Deposits
- Deposit sequence data and, where possible, variant interpretations in a recognized repository, and give accession numbers and persistent links. See Data Archiving and Permissions.
Reporting guidelines
Report the study following the guideline that matches its design and upload the completed checklist as a supplementary file, where applicable. The guidelines are available from the EQUATOR Network.
| Study design | Guideline |
|---|---|
| Randomized trials | CONSORT |
| Observational studies (cohort, case-control, cross-sectional) | STROBE |
| Genetic association studies | STREGA |
| Systematic reviews and meta-analyses | PRISMA 2020 |
| Scoping reviews | PRISMA-ScR |
| Diagnostic accuracy studies | STARD |
| Prediction models | TRIPOD |
| Qualitative research | SRQR or COREQ |
| Case reports | CARE |
| Animal research | ARRIVE 2.0 |
References, tables and figures
- Reference style
- Numbered in order of first citation. List the first five authors, then et al., and give a DOI or stable URL where one exists. Authors are responsible for the accuracy of references. The examples below show the format only; replace the placeholder text (author, journal and DOI) with the details of the cited work.
- Tables
- Numbered consecutively, each with a descriptive title; abbreviations and symbols explained in a footnote.
- Figures
- High resolution (at least 300 dpi) in TIFF, EPS, PNG or high-quality JPEG, with a caption for each figure, a legend defining symbols and abbreviations, and text that remains legible after reduction.
- Supplementary files
- Numbered (for example, Supplementary Table S1), cited in the text and listed with short titles at the end of the manuscript. They are published as supplied, so they must be final and free of participant identifiers.
- Reused material
- Written permission from the copyright holder to reproduce or adapt published figures, tables or text, unless the material is already available under a license that permits reuse; the source is cited in the legend.
- Journal article
- Author AA, Author BB, Author CC, Author DD, Author EE, et al. (Year) Title of the article. Journal Name. Volume(Issue):pages. DOI: 10.xxxx/xxxxx
- Book
- Author AA, Author BB (Year) Title of the Book. Edition. Place of publication: Publisher.
- Report or webpage
- Organization Name (Year) Title of the report or page. URL (accessed Month Day, Year)
- Dataset
- Author AA, Author BB (Year) Title of the dataset. Version. Repository Name. DOI or accession number
- Preprint
- Author AA, Author BB (Year) Title of the preprint. Preprint Server Name [Preprint]. DOI: 10.xxxx/xxxxx
- Trial registration
- Sponsor or Principal Investigator (Year) Title of the trial. Registry Name. Registration number. Registered Month Day, Year. URL
Ethics and declarations
Each manuscript includes the statements below that apply to it. The full policies are set out in the Editorial Policies.
Human participants and families
The name of the approving ethics committee or institutional review board and the approval reference number, and confirmation of informed consent, or a waiver documented by the ethics committee, where applicable. Family studies describe how consent and privacy were handled across related participants.
Clinical trials
Interventional clinical trials must be registered in an accepted public trial registry at or before the first participant provides consent for enrollment. The registry name, registration number, and registration date must be reported in the manuscript.
Case reports and images
Informed consent for publication from the patient or a legal guardian, or a waiver documented by the ethics committee, where applicable, with identifying details removed.
Animal research
Approval from the institutional animal care and use committee or animal ethics committee with its reference number, compliance with animal-welfare regulations and the 3Rs, and reporting in line with the ARRIVE guidelines.
Conflicts of interest and funding
All financial and non-financial interests of every author, including commercial relationships and patents linked to assays or therapies, each source of funding and the role of the funder.
Data availability
Every empirical research manuscript must include a data-availability statement. It explains where the data can be found or the conditions for access.
Use of AI tools
Any use of AI tools in writing, analysis or figure preparation, with the tool named and its use described. AI tools are not listed as authors.
Peer review and decisions
All submissions undergo initial editorial screening, including similarity screening. Manuscripts that meet the journal's scope and minimum requirements proceed to independent peer review.
Single-blind by default; double-blind review is available on request.
Manuscripts that proceed to external peer review are normally evaluated by at least two independent subject-matter experts. Editorial decisions are based on scope, scientific quality, methodological rigor, ethical compliance, reporting quality, and relevance to the journal.
Revised manuscripts are accompanied by a point-by-point response to the reviewers' comments, with the location of each change in the manuscript. After acceptance, authors check the proofs, including author names, affiliations, variant descriptions and references, and the article is published open access under CC BY 4.0.
Fees
The article processing charge depends on the article type, from USD 350 for a Letter to the Editor to USD 2,100 for a Systematic Review and Meta-Analysis. Each amount is listed on the Article Processing Charges page.
The article processing charge is payable only after acceptance; withdrawal after submission is subject to the journal's withdrawal policy.
Fee-relief inquiries are considered case by case; contact the editorial office before or at submission.
Final checklist
A fuller checklist and the submission routes are on the Submit a Manuscript page.
- The manuscript addresses a question in which an inherited or genetic contribution to disease is central and uses one of the article types above.
- The title page, abstract, keywords and main text follow the guidance for the article type.
- For double-blind review, the reviewer manuscript is anonymized and identifying information is in the title-page file.
- Ethics approval, consent or waiver, and trial registration are reported where applicable, and pedigrees and images carry no identifying information.
- Variants are described with HGVS nomenclature and the classification criteria are stated.
- The completed reporting checklist, the data-availability statement and the declarations are included.
- References, tables, figures and supplementary files follow the formats above.
Contact the editorial office
Questions about scope, ethics or submission can be sent to [email protected].