The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders

@article{Wadhwa2018TheAO,
  title={The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders},
  author={Raoul R. Wadhwa and Deborah Y. Park and M. Natowicz},
  journal={American Journal of Medical Genetics Part A},
  year={2018},
  volume={176},
  pages={2704 - 2709}
}
  • Raoul R. Wadhwa, Deborah Y. Park, M. Natowicz
  • Published 2018
  • Computer Science, Medicine
  • American Journal of Medical Genetics Part A
  • The increasing use of next‐generation sequencing, especially clinical exome sequencing, has revealed that individuals having two coexisting genetic conditions are not uncommon occurrences. This pilot study evaluates the efficacy of two methodologically distinct computational differential diagnosis generating tools—FindZebra and SimulConsult—in identifying multiple genetic conditions in a single patient. Clinical query terms were generated for each of 15 monogenic disorders that were effective… CONTINUE READING

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