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Reference population databases are an essential tool in variant and geneinterpretation. Their use guides the identification of pathogenic variantsamidst the sea of benign variation present in every human genome, and supportsthe discovery of new disease-gene relationships. The Genome AggregationDatabase (gnomAD) is currently the largest and most widely used publiclyavailable collection of population variation from harmonized sequencing data.The data is available through the online gnomAD browser(https://gnomad.broadinstitute.org/) that enables rapid and intuitive variantanalysis. This review provides guidance on the content of the gnomAD browser,and its usage for variant and gene interpretation. We introduce key featuresincluding allele frequency, per-base expression levels, constraint scores, andvariant co-occurrence, alongside guidance on how to use these in analysis, witha focus on the interpretation of candidate variants and novel genes in raredisease.

Variant interpretation using population databases: Lessons from gnomAD