Source of gnomAD data for small variants on GRCh38

Implementation for Emedgene pipeline version < 34.0:

gnomAD data for GRCh38 exists for genomes only for version 3.1.

gnomAD exome data is only available for GRCh37 on previous versions.

In order to retain the wealth of exome data for our GRCh38 customers, Emedgene's GRCh38 small variant gnomAD data combines the following:

• Liftover of GRCh37 exome data from gnomAD v2 to GRCh38

• GRCh38 genome data from gnomAD v3

Known limitation:

This implementation contains some duplicate variants between v2 and v3.

Implementation for Emedgene pipeline version > 34.0:

gnomAD has since released gnomAD v3.1.2 (non-v2) which will includes only v3 variants that are not present in v2 and will solve the duplication issue. Emedgene will support this version starting in Emedgene pipeline 34.0.