The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

@article{Shashi2014TheUO,
  title={The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders},
  author={Vandana Shashi and Allyn McConkie-Rosell and Bruce Rosell and Kelly Schoch and Kasturi Vellore and Marie A. McDonald and Yong-Hui Jiang and Pingxing Xie and Anna C. Need and David B Goldstein},
  journal={Genetics in Medicine},
  year={2014},
  volume={16},
  pages={176-182}
}
Purpose:The purpose of this study was to assess the diagnostic yield of the traditional, comprehensive clinical evaluation and targeted genetic testing, within a general genetics clinic. These data are critically needed to develop clinically and economically grounded diagnostic algorithms that consider presenting phenotype, traditional genetics testing, and the emerging role of next-generation sequencing (whole-exome/genome sequencing).Methods:We retrospectively analyzed a cohort of 500… CONTINUE READING

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