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Article

Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database.

Clinical genetics - 1 Aug 2022

Schmitz Matthew J, Aarabi Mahmoud, Bashar Ali, Rajkovic Aleksandar, Gregg Anthony R, Yatsenko Svetlana A

Abstract excerpt

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...

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PMID: 35532184
DOI: 10.1111/cge.14148

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