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Article

Strategies for identification of somatic variants using the Ion Torrent deep targeted sequencing platform.

BMC bioinformatics - 4 Jan 2018

Deshpande Aditya, Lang Wenhua, McDowell Tina, Sivakumar Smruthy, Zhang Jiexin, Wang Jing, San Lucas F Anthony, Fowler Jerry, Kadara Humam, Scheet Paul

Abstract excerpt

BACKGROUND: 'Next-generation' (NGS) sequencing has wide application in medical genetics, including the detection of somatic variation in cancer. The Ion Torrent-based (IONT) platform is among NGS technologies employed in clinical, research and diagnostic settings. However, identifying mutations from IONT deep sequencing with high confidence has remained a challenge. We compared various computational...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29301485
DOI: 10.1186/s12859-017-1991-3
PMCID: PMC5753459

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