Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics

@inproceedings{Jurgens2015AssessmentOI,
  title={Assessment of incidental findings in 232 whole exome sequences from the Baylor-Hopkins Center for Mendelian Genomics},
  author={Julie Jurgens and Hua Ling and Kurt N. Hetrick and Elizabeth K. Pugh and François Schiettecatte and Kimberly Doheny and Ada Hamosh and Dimitri Avramopoulos and David Valle and Nara Lygia de Macena Sobreira},
  booktitle={Genetics in Medicine},
  year={2015}
}
Purpose:In March 2013 the American College of Medical Genetics and Genomics published a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants detected incidentally by clinical sequencing be reported to patients. As an initial step in determining the practical consequences of this recommendation in the research setting, we searched for variants in these genes in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.Methods:We identified… CONTINUE READING

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