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Actionable genomic variants in 6045 participants from the Qatar Genome Program

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Version 2 2023-03-20, 11:05
Version 1 2023-03-16, 06:23
journal contribution
revised on 2023-03-20, 11:04 and posted on 2023-03-20, 11:05 authored by Amal Elfatih, Borbala Mifsud, Najeeb Syed, Ramin Badii, Hamdi Mbarek, Fatemeh Abbaszadeh, The Qatar Genome Program Research Consortium, Xavier Estivill

In a clinical setting, DNA sequencing can uncover findings unrelated to the purpose of genetic evaluation. The American College of Medical Genetics and Genomics (ACMG) recommends the evaluation and reporting of 59 genes from clinic genomic sequencing. While the prevalence of secondary findings is available from large population studies, these data lack Arab and other Middle Eastern populations. The Qatar Genome Program (QGP) generates whole-genome sequencing (WGS) data and combines it with phenotypic information to create a comprehensive database for studying the Qatari and wider Arab and Middle Eastern populations at the molecular level. This study identified and analyzed medically actionable variants in the 59 ACMG genes using WGS data from 6045 QGP participants. Our results identified a total of 60 pathogenic and likely pathogenic variants in 25 ACMG genes in 141 unique individuals. Overall, 2.3% of the QGP sequenced participants carried a pathogenic or likely pathogenic variant in one of the 59 ACMG genes. We evaluated the QGP phenotype-genotype association of additional nonpathogenic ACMG variants. These variants were found in patients from the Hamad Medical Corporation or reported incidental findings data in Qatar. We found a significant phenotype association for two variants, c.313+3A>C in LDLR, and c.58C>T (p.Gln20*) in the TPM1.

Other Information

Published in: Human Mutation
License: http://creativecommons.org/licenses/by-nc/4.0/
See article on publisher's website: http://dx.doi.org/10.1002/humu.24278

History

Language

  • English

Publisher

Wiley

Publication Year

  • 2021

Institution affiliated with

  • Hamad Bin Khalifa University
  • Sidra Medical and Research Center
  • Hamad Medical Corporation
  • Qatar Foundation for Education Science and Community Development

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