Carrier frequency of autosomal recessive genetic conditions in diverse populations: lessons learned from the Genome Aggregation Database

An equitable approach by the American College of Medical Genetics and Genomics (ACMG) has recently recommended carrier screening for genes associated with moderate to severe autosomal recessive conditions with a carrier frequency of ≥1/200 in the Genome Aggregation Database exomes (gnomADv2.0.2). We analyzed carrier frequencies in gnomADv3.1.1 genomes representing diverse populations. ClinVar data on 35,996 pathogenic/likely pathogenic variants in 419 genes were used to estimate the gnomAD...