Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease

@inproceedings{Newey2017UtilityOP,
  title={Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease},
  author={Paul J. Newey and Jonathan N. Berg and Kaixin Zhou and Colin N A Palmer and Rajesh V Thakker},
  booktitle={Journal of the Endocrine Society},
  year={2017}
}
Context Genetic testing is increasingly used for clinical diagnosis, although variant interpretation presents a major challenge because of high background rates of rare coding-region variation, which may contribute to inaccurate estimates of variant pathogenicity and disease penetrance. Objective To use the Exome Aggregation Consortium (ExAC) data set to determine the background population frequencies of rare germline coding-region variants in genes associated with hereditary endocrine… CONTINUE READING
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