biobouncer

MaRDI QIDQ7371849CRANFDO

Authors Samuel Bharti

Last update 3 September 2026

Copyright license MIT license, File License

Software version identifier 0.1.4

Description

Gene symbols, ontology terms, variant formats, and database accessions are validated through one small application programming interface (API), either offline against identifier patterns and bundled snapshots or live against a source web service. Results are designed to match those of the companion 'Python' package for the same inputs. Input order and length are preserved, and errors are reported explicitly rather than as a silent failure. Identifier patterns follow the registry and nomenclature described in Hoyt et al. (2022) <doi:10.1038/s41597-022-01807-3> and den Dunnen et al. (2016) <doi:10.1002/humu.22981>.

Cites work

• HGVS Recommendations for the Description of Sequence Variants: 2016 Update
• Unifying the identification of biomedical entities with the Bioregistry

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