Standardized nomenclature and open science in Human Genomics
Vasilis Vasiliou, Kirill Veselkov, Elspeth A. Bruford, Juergen Reichardt
Abstract
[Extract] Two recent papers have highlighted the vital importance of using standardized nomenclature in reporting data, especially when this is of clinical relevance. Higgins et al. [1] have drawn attention to the crucial matter of the appropriate nomenclature of DNA variants in scientific publications. It is critical that DNA variants can be identified unambiguously. And Fujiyoshi et al. [2] have called for gene products to be referenced using the approved gene symbol for the encoding gene, along with an appropriate database ID (HGNC ID, with UniProt ID where required, see Table 1 for resources for vertebrate genes). Confusion can impede data sharing and scientific progress, as well as potentially result in patient harm.