Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions
Clin Chem. 2026 Mar 7:hvag010. doi: 10.1093/clinchem/hvag010. Online ahead of print. ABSTRACT BACKGROUND: Accurate descriptions of human genomic variants are crucial for gene-disease association, discovery, and clinical diagnosis. Although standardized genomic nomenclature, expertly curated and promulgated by the Human Genome Variation Society and the International Standing Committee on Human Cytogenomic Nomenclature, is strongly encouraged in … Read more