HGNChelper: identification and correction of invalid gene symbols for human and mouse [version 2; peer review: 3 approved]

• Published in: F1000 research Vol. 9; p. 1493
• Main Authors: Oh, Sehyun, Abdelnabi, Jasmine, Al-Dulaimi, Ragheed, Aggarwal, Ayush, Ramos, Marcel, Davis, Sean, Riester, Markus, Waldron, Levi
• Format: Journal Article
• Language: English
• Published: England F1000 Research Limited 2020; F1000 Research Ltd
• Subjects: eng; gene symbols; HGNC; MGI; molecular biology; Software Tool; molecular biology; HGNC; gene symbols; MGI
• ISSN: 2046-1402; 2046-1402
• DOI: 10.12688/f1000research.28033.2

Gene symbols are recognizable identifiers for gene names but are unstable and error-prone due to aliasing, manual entry, and unintentional conversion by spreadsheets to date format. Official gene symbol resources such as HUGO Gene Nomenclature Committee (HGNC) for human genes and the Mouse Genome Informatics project (MGI) for mouse genes provide authoritative sources of valid, aliased, and outdated symbols, but lack a programmatic interface and correction of symbols converted by spreadsheets. We present HGNChelper, an R package that identifies known aliases and outdated gene symbols based on the HGNC human and MGI mouse gene symbol databases, in addition to common mislabeling introduced by spreadsheets, and provides corrections where possible. HGNChelper identified invalid gene symbols in the most recent Molecular Signatures Database (MSigDB 7.0) and in platform annotation files of the Gene Expression Omnibus, with prevalence ranging from ~3% in recent platforms to 30-40% in the earliest platforms from 2002-03. HGNChelper is installable from CRAN.