Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions

@inproceedings{Seo2017EvaluationOE,
  title={Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions},
  author={Heewon Seo and Yoomi Park and Byung Joo Min and Myung Eui Seo and Ju Han Kim},
  booktitle={PloS one},
  year={2017}
}
The Ion Proton sequencer from Thermo Fisher accurately determines sequence variants from target regions with a rapid turnaround time at a low cost. However, misleading variant-calling errors can occur. We performed a systematic evaluation and manual curation of read-level alignments for the 675 ultrarare variants reported by the Ion Proton sequencer from 27 whole-exome sequencing data but that are not present in either the 1000 Genomes Project and the Exome Aggregation Consortium. We classified… CONTINUE READING