High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.

@article{Risgaard2013HighPO,
  title={High prevalence of genetic variants previously associated with Brugada syndrome in new exome data.},
  author={Bjarke Risgaard and Reza Jabbari and Lena Refsgaard and Anders Gaarsdal Holst and Stig Hauns\o and A Sadjadieh and Bo Gregers Winkel and Morten Salling Olesen and Jacob Tfelt-Hansen},
  journal={Clinical genetics},
  year={2013},
  volume={84 5},
  pages={489-95}
}
More than 300 variants in 12 genes have been associated with Brugada syndrome (BrS) which has a prevalence ranging between 1:2000 and 1:100,000. Until recently, there has been little knowledge regarding the distribution of genetic variations in the general population. This problem was partly solved, when exome data from the NHLI GO Exome Sequencing Project (ESP) was published. In this study, we aimed to report the prevalence of previously BrS-associated variants in the ESP population. We… CONTINUE READING

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In ESP , we identified 38 of 355 ( 10% ) variants , distributed on 272 heterozygote carriers and two homozygote carriers .
In ESP , we identified 38 of 355 ( 10% ) variants , distributed on 272 heterozygote carriers and two homozygote carriers .
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