Prepare manuscripts with the following sequence: Title, Abstract, Keywords, Introduction, Methods, Results, Discussion, Conclusion, Acknowledgments, Funding, Conflicts of Interest, Data Availability, and References. Titles should define the hereditary condition or genetic mechanism studied and avoid broad non-specific phrasing.

Abstracts should summarize study design, cohort characteristics, primary results, and clinical implications in concise language. Keywords should include disease names, gene symbols where relevant, and diagnostic method terms to improve retrieval in search systems.

Use consistent terminology for variants, genes, and phenotype descriptors throughout the manuscript. Define abbreviations at first use and avoid unexplained shorthand that can delay review or create interpretation errors.

Methods sections should describe recruitment, inclusion and exclusion criteria, sample handling, sequencing or assay workflow, variant calling pipelines, and interpretation criteria. If ACMG style rules or internal classification systems are used, provide rule definitions and threshold logic.

For bioinformatics analyses, report software names, versions, database references, and core parameters. If custom scripts were used, provide repository links or supplementary code excerpts that allow independent validation.

Clinical studies should specify consent procedures, ethics committee approvals, and governance for family member data. Explain whether results were confirmed by orthogonal testing and how uncertain findings were handled.

Figures must include clear legends, units, and definitions of all symbols and abbreviations. Variant diagrams, pedigree charts, and workflow schematics should be readable in both PDF and HTML formats.

Supplementary files should be named logically and referenced in the main text. Include data dictionaries, phenotype codebooks, and protocol details where relevant to interpretation.

If external repositories are used, provide accession numbers and persistent links. Confirm that repository metadata aligns with manuscript terminology to reduce discoverability gaps.

Manuscripts involving human participants must include ethics approval identifiers and a statement describing informed consent processes. For family-based studies, describe how consent and privacy were handled across related participants.

Remove direct identifiers and minimize re-identification risk in tables and supplementary files. When full sharing is not possible, provide controlled access pathways and clear governance conditions.

Any potential conflicts of interest, commercial relationships, or patent positions linked to diagnostic assays or therapeutic approaches must be disclosed explicitly.

Submit a structured response document that addresses each reviewer comment. Indicate exact manuscript locations for all changes and provide technical rationale when recommendations are not adopted.

Major revisions should include updated figures, refreshed statistics where requested, and revised interpretation text that reflects reviewer concerns. If additional validation is not feasible, explain limitations transparently.

Maintain version control across files and ensure that revised supplementary materials are synchronized with the main manuscript.

During proofing, verify author names, affiliations, variant identifiers, and reference formatting. Minor textual corrections are accepted at this stage; major data changes require editorial approval.

Authors retain rights under the selected open license and may share published versions with DOI citation. Metadata deposits and indexing support are initiated during production to improve immediate discoverability.

For policy and submission questions, contact [email protected] with manuscript ID and topic for fastest routing.

Reviewers frequently request cohort definition clarity, variant filtering logic, validation details, and explanation of uncertain classifications. Anticipate these questions by documenting exclusion logic, quality thresholds, and interpretation boundaries in the methods section.

Where negative findings are central, explain analytical sensitivity and study power so conclusions are interpretable. For family studies, define pedigree selection criteria and potential ascertainment bias. Transparent limits improve manuscript credibility even when evidence is mixed.

For complex studies involving cross-border data governance, multi-family consent structures, or unusual variant evidence frameworks, contact [email protected] before submission. Early clarification helps avoid avoidable processing delays and ensures your manuscript is routed to the right editorial expertise from the start.

Ensure that gene symbols, transcript references, and variant nomenclature are consistent in abstract, main text, figures, and supplementary files. Discrepancies in identifiers can cause review delays and reduce confidence in result interpretation.

Phenotype descriptions should use clear clinical terms with structured definitions where available. If multiple classification systems are used, map them explicitly so external researchers can interpret findings correctly.

For studies with longitudinal follow-up, distinguish baseline from follow-up observations clearly in tables and legends.

Before upload, verify internal consistency across title, abstract, tables, figures, supplementary files, and declarations. Ensure all identifiers, cohort numbers, and key result values match exactly across sections. This final check reduces reviewer confusion and shortens editorial turnaround for complex hereditary manuscripts.