P441: Universal erroneous variant naming errors in Genetics in Medicine submissions emphasize the critical need for technical reviewing in genomics publications

Introduction: Accurate and consistent use of genomic variant nomenclature is essential for gene–disease association studies, discovery research, and clinical diagnostics. The Human Genome Variation Society (HGVS) and the International System for Human Cytogenomic Nomenclature (ISCN) provide internationally accepted standards for describing human genomic variants. However, adoption and enforcement of these standards in scientific publications remain inconsistent. Lack of adherence to standardized nomenclature introduces ambiguity, hinders variant findability, and impairs the reproducibility of clinical interpretations. To address these challenges, Genetics in Medicine (GIM) and Genetics in Medicine Open (GIMO) have established a technical editing team. The team developed and implemented a technical peer-review process underpinned by standardized editorial protocols and developed revised author guidelines. The peer-review process and updated guidelines were designed to improve adherence to nomenclature standards across submitted manuscripts. Methods: A systematic review was conducted by the team on a range of manuscripts submitted to GIM and GIMO over a two-year period. Each manuscript was assessed using a standardized rubric and severity scoring system based on HGVS, ISCN, and the journal’s authorship guidelines. Nomenclature deviations were categorized by type, frequency, and potential impact on variant interpretation or findability. To evaluate the practical consequences of these deviations, selected variants published with incorrect or incomplete nomenclature were searched across three open-source variant databases and search tools using the original published syntax. Searches were then repeated with corrected HGVS-compliant nomenclature. Comparative analyses were carried out to determine how much nomenclature accuracy affects the retrievability of variants. Results: All manuscripts reviewed (n=100%) demonstrated at least one instance of non-compliance with current HGVS or ISCN standards. The majority contained multiple errors expected to substantially reduce the probability of variant detection in standard database queries. Common issues included omission of reference sequences, incomplete genomic coordinate notation, use of legacy gene symbols, and inconsistent representation of copy number variants. Variant findability tests revealed substantial differences among databases, with incorrect nomenclature leading to missed retrievals or inaccurate variant matches. Even when submissions were corrected, differences between database search algorithms and the presence of erroneous variant nomenclature in external published works introduced additional variability in terms of the results returned. Conclusion: These findings demonstrate that non-compliance with genomic nomenclature standards is widespread and impairs variant findability and interpretation. Current author instructions alone are insufficient to ensure adherence. Implementation of dedicated technical peer-review review within editorial pipelines is essential to improve data integrity and reproducibility in the genomic literature. Broader adoption of standardized editorial procedures and education for authors will strengthen the reliability of published variant data, ultimately supporting more accurate genomic diagnosis and research translation.