Positioning a Rare-Disease Genomics Study for a Scopus Q1 Journal

The work was defined as a research investigation rather than a clinical diagnostic report. The question, pedigree logic and phenotype terminology were clarified, and conclusions were aligned with the evidence, with candidate variants remaining appropriately classified.

Read quality control, alignment, variant calling, annotation, filtering thresholds and software versions were documented, while clinical features were standardised and connected systematically with gene-disease evidence.

Population, computational, segregation and literature evidence were organised under recognised classification criteria, and variants confirmed by an independent method were distinguished from findings requiring further laboratory validation.

Consent, family privacy, incidental findings, controlled data sharing and limitations on identifiable genomic information were clarified, and additional phenotype comparisons were reported without disclosing family identities.

Candidate journals were shortlisted by genetics and genomics scope, article type, readership, recent sequencing studies, editorial expectations and publication cost. Scopus coverage and source quartile were checked at the time of selection, and the final target matched the study's rare-disease discovery focus.

The variant-filtering figure was redesigned so each exclusion step and remaining candidate count could be audited, claims of pathogenicity were revised to match the available classification evidence, and a structured response letter linked every reviewer request to a manuscript, figure, table or supplementary-file revision.