Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data.

@article{Cheng2014DetectionOM,
  title={Detection of mutations in myeloid malignancies through paired-sample analysis of microdroplet-PCR deep sequencing data.},
  author={Donavan T. Cheng and Janice C Cheng and Talia N Mitchell and Aijazuddin Syed and Ahmet Zehir and Nana Yaa T Mensah and Alifya Oultache and Kh{\'e}doudja Nafa and Ross L. Levine and Maria E. Arcila and Michael F. Berger and Cyrus V. Hedvat},
  journal={The Journal of molecular diagnostics : JMD},
  year={2014},
  volume={16 5},
  pages={504-518}
}
Amplicon-based methods for targeted resequencing of cancer genes have gained traction in the clinic as a strategy for molecular diagnostic testing. An 847-amplicon panel was designed with the RainDance DeepSeq system, covering most exons of 28 genes relevant to acute myeloid leukemia and myeloproliferative neoplasms. We developed a paired-sample analysis pipeline for variant calling and sought to assess its sensitivity and specificity relative to a set of samples with previously identified… CONTINUE READING
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