figshare
Browse
spadaHC.zip (2.16 MB)

SpadaHC source code

Download (2.16 MB)
software
posted on 2024-02-29, 11:04 authored by José Marcos Moreno-CabreraJosé Marcos Moreno-Cabrera

SpadaHC is a web-based database for sharing variants in hereditary cancer genes in the Spanish population. Contributing laboratories can share variant classifications and variants from individuals in VCF format. The platform supports flexible dataset submissions, automatic pseudo-anonymization, VCF quality control, open-restricted access, variant normalization, and liftover between genome builds. Users can explore and search data, receive automatic discrepancy notifications, and access SpadaHC population frequencies based on several criteria.

SpadaHC is available at https://spadahc.ciberisciii.es/

History

Usage metrics

    Categories

    Licence

    Exports

    RefWorks
    BibTeX
    Ref. manager
    Endnote
    DataCite
    NLM
    DC