Article
Evaluation of exome variants using the Ion Proton Platform to sequence error-prone regions.
PloS one - 1 Jan 2017
Seo Heewon, Park Yoomi, Min Byung Joo, Seo Myung Eui, Kim Ju Han
Abstract excerpt
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...
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