36. Gene Normalizer: A tool to resolve genetic ambiguity through data harmonization

Gene symbols, maintained by gene naming authorities such as HGNC, are error-prone when used as identifiers for describing genes in databases and biomedical literature. Gene symbols are subject to changes over time, and may conflict with community aliases for gene loci, leading to potential errors. We investigated the scale of this issue by evaluating the gene symbols and aliases of two authoritative gene sets: NCBI Gene and HGNC. We found 3,940 gene records (2.3%) containing aliases that identically matched the primary symbol of another gene record.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research