gnomAD filters

These filters can be added to filter chains to detect rare gene variants for specific population groups in the software. The filters are derived from the genome aggregation database (gnomAD) database. The specific filters are:

  • gnomAD AAF (African Population Allele Frequency) (2)

  • gnomAD AJAF (Ashkenazi Jewish Population Allele Frequency) (2)

  • gnomAD EAAF (East Asian Population Allele Frequency (2)

  • gnomAD EFAF (European Finnish Population Allele Frequency) (2)

  • gnomAD FEM (Female Population Allele Frequency) (2)

  • gnomAD FNFAF (European Non-Finnish Population Allele Frequency) (2)

  • gnomAD GAF(African Population Allele Frequency) (2)

  • gnomAD LAF (Latino Population Allele Frequency) (2)

  • gnomAD MAF (male Population Allele Frequency) (2)

  • gnomAD OAF (Other Population Allele Frequency) (2)

  • gnomAD SAAF (South Asian Population Allele Frequency) (2)

Filter conditions include the ability to set a range from 0.0 to 1.0. In addition, the range boundary values can be included or excluded, and unannotated variants can be included or excluded in filtered analysis results.

The filter detects rare gene variant results that align with the gnomAD database, which can be included or excluded from filtered analysis results.