Hello gnomAD team,
When investigating missense variants in a gene using gnomAD v4, both UK Biobank (UKB) and non-UK Biobank (non-UKB) allele frequency data are available for many populations. For certain filtering criteria (e.g., rare disease variant curation or ACMG guidelines), would it be appropriate to simply report the higher observed allele frequency (“GroupMax”) between the two sources for each ancestry? Is this approach recommended—or are there potential pitfalls or more statistically robust alternatives for allele frequency reporting, especially for populations where sample sizes or representativeness differ substantially between UKB and non-UKB?
Any clarification or references to current best practices would be greatly appreciated!
Thank you,
RN