- Reviewer guidance
- Single-blind by default
- Open access · CC BY 4.0
For Reviewers
Peer reviewers evaluate manuscripts submitted to the Journal of Hereditary Diseases for validity, rigor and clarity, and advise the editors on whether the conclusions are supported by the evidence. This page sets out what the journal asks of reviewers, from the invitation to the final report.
Responding to an invitation
Expertise
Accept when the manuscript falls within your expertise, or tell the editor which parts you can assess, such as the clinical description, the laboratory methods or the bioinformatic analysis.
Conflicts of interest
Decline, or consult the editor, if you have a competing interest such as recent collaboration with an author, a shared institution, a personal relationship or a financial interest in the work.
Availability
Each invitation states the date by which the report is requested. Accept when you can meet it, and tell the editorial office promptly if you need more time.
Reply
Accept or decline promptly. When declining, suggestions of independent alternative reviewers are welcome.
Confidentiality, files and AI tools
Manuscripts under review are confidential documents. Reviewers do not share them, discuss them with others, or contact the authors, and consult a colleague only with the editor's permission. Patient, family and genetic information in a manuscript is handled with particular care.
Single-blind by default; double-blind review is available on request. For double-blind manuscripts, reviewers must not attempt to identify the authors.
After submitting the review, reviewers should securely delete downloaded manuscript files and must not retain or use unpublished material.
Reviewers must obtain journal permission before using AI to assist with a review. Any permitted use must be disclosed, and confidential manuscript content must not be uploaded where confidentiality cannot be assured.
What to assess
Questions apply where applicable to the study design and article type. A reviewer may assess only part of a manuscript, such as the statistical analysis, if the editor is told.
| Aspect | Questions to consider |
|---|---|
| Relevance | Does the manuscript address a question about inherited disease within the journal's Aims and Scope, and is its contribution clear? |
| Study design | Is the design appropriate to the question, for example a family, cohort, case-control, cross-sectional, trial, functional, qualitative, modeling or evidence-synthesis design? |
| Methods and analysis | Are recruitment, sample handling, assays or sequencing workflows, and statistical or qualitative analysis described in enough detail to be evaluated, where applicable? |
| Variant evidence | Where variants are reported, is the evidence for the interpretation and classification clear, are findings confirmed where appropriate, and are uncertain findings handled transparently? |
| Results | Are the findings presented clearly and consistently with the data, tables, pedigrees and figures? |
| Interpretation | Are the conclusions proportionate to the evidence, with limitations, confounders and alternative explanations discussed? |
| Ethics and reporting | Are ethics approval and informed consent, or a waiver documented by the ethics committee, reported where applicable? Is the relevant reporting guideline, such as CONSORT, STROBE, STREGA, PRISMA, CARE, STARD or ARRIVE, followed where applicable, and does empirical research include a data-availability statement? |
| Presentation | Do the title and abstract reflect the content accurately, and are the writing, tables and figures clear? |
Points of emphasis by article type
Expectations follow the format of the manuscript. Structure, hypotheses and statistical analysis are assessed where they apply.
| Article type | Emphasis |
|---|---|
| Original Research | The research question, design, analysis, and whether the conclusions follow from the results. |
| Review | Coverage of the relevant evidence, balance, accuracy of the synthesis and clarity of the conclusions. |
| Systematic Review and Meta-Analysis | Protocol or registration where available, search strategy, study selection, risk-of-bias assessment, synthesis methods and PRISMA reporting. |
| Case Report or Case Series | Completeness of the clinical and genetic account, relevance to existing knowledge, consent, and CARE reporting where applicable. |
| Brief Communication | A focused finding reported with sufficient methods to judge it. |
| Editorial or Commentary | Clarity and support of the argument, use of evidence, and relevance to current questions in inherited disease. |
| Letter to the Editor | Pertinence to published work, and accuracy of its claims. |
Structure of the report
Comments to authors are specific, constructive and courteous. Reviewers make a recommendation; the editor makes the decision.
Editorial decisions are based on scope, scientific quality, methodological rigor, ethical compliance, reporting quality, and relevance to the journal.
- Summary. The manuscript's question, approach and main claims, in a few sentences.
- Overall assessment. Strengths of the work and whether the conclusions are supported.
- Major points. Issues of design, analysis or interpretation that affect the conclusions, numbered for reference, with the evidence or clarification that would resolve each.
- Minor points. Clarity, presentation, references and other corrections.
- Confidential comments to the editor. Concerns about ethics, overlap with other work or competing interests.
- Recommendation. Accept, minor revision, major revision or reject.
Joining as a reviewer
Researchers and clinicians with expertise in inherited disease are welcome to join the journal's reviewer panel. Apply online or write to the editorial office at info@openaccesspub.org with your areas of expertise.
Reviewing confers no advantage in the review of the reviewer's own submissions.