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Cited by 18

The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.

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

Schmitz, Matthew J., Aarabi, Mahmoud, Bashar, Ali, Rajkovic, Aleksandar, Gregg, Anthony R., Yatsenko, Svetlana A.·2022·Clinical Genetics
DOI 10.1111/cge.14148
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Abstract

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 frequency of heterozygous carriers. We found that ninety‐two genes had a carrier frequency of ≥1/200, of which 63 were shared between v3.1.1 and v2.0.2 and 29 were new in v3.1.1. Addition of new populations (Amish, Finnish and Middle Eastern) increased the number of new genes with a carrier frequency of ≥1/200 to 71. Changes in carrier frequencies were attributed to new gnomAD populations, different sample sizes, new ClinVar data, and technical differences between exomes and genomes. This study highlights the dynamic changes in carrier frequencies due to new datasets from diverse populations and provides updated carrier frequencies based on the combined data from 184 352 genomes and exomes in gnomAD. We recommend a periodic review for inclusion of new population data to update carrier screening panels in the future.

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Crossref · 10.1111/cge.14148

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Metadata

Authors
Schmitz, M. J., Aarabi, M., Bashar, A., Rajkovic, A., Gregg, A. R., & Yatsenko, S. A.
Affiliations
  • Temerty Faculty of Medicine University of Toronto Toronto Ontario Canada
  • UPMC Medical Genetics & Genomics Laboratories UPMC Magee‐Womens Hospital Pittsburgh Pennsylvania USA
  • Faculty of Science York University Toronto Ontario Canada
  • Departments of Pathology and Obstetrics, Gynecology and Reproductive Sciences University of California San Francisco San Francisco California USA
  • Department of Obstetrics and Gynecology Prisma Health Columbia South Carolina USA
Venue
Clinical Genetics
Publisher
Wiley
Published
2022-05-20
Volume
102
Issue
2
Pages
87-97
ISSN
  • 0009-9163
  • 1399-0004
DOI
10.1111/cge.14148
Cited by
18
References
27
Language
en
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)

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CoChat. (2026). Citation check: Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database. https://app.cochat.ai/papers/10.1111/cge.14148
The paper
Schmitz, M. J., Aarabi, M., Bashar, A., Rajkovic, A., Gregg, A. R., & Yatsenko, S. A. (2022). Carrier frequency of autosomal recessive genetic conditions in diverse populations: Lessons learned from the genome aggregation database. Clinical Genetics. https://doi.org/10.1111/cge.14148

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.