論文

国際誌
2014年8月8日

SUGAR: graphical user interface-based data refiner for high-throughput DNA sequencing.

BMC genomics
  • Yukuto Sato
  • ,
  • Kaname Kojima
  • ,
  • Naoki Nariai
  • ,
  • Yumi Yamaguchi-Kabata
  • ,
  • Yosuke Kawai
  • ,
  • Mamoru Takahashi
  • ,
  • Takahiro Mimori
  • ,
  • Masao Nagasaki

15
開始ページ
664
終了ページ
664
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1186/1471-2164-15-664

BACKGROUND: Next-generation sequencers (NGSs) have become one of the main tools for current biology. To obtain useful insights from the NGS data, it is essential to control low-quality portions of the data affected by technical errors such as air bubbles in sequencing fluidics. RESULTS: We develop a software SUGAR (subtile-based GUI-assisted refiner) which can handle ultra-high-throughput data with user-friendly graphical user interface (GUI) and interactive analysis capability. The SUGAR generates high-resolution quality heatmaps of the flowcell, enabling users to find possible signals of technical errors during the sequencing. The sequencing data generated from the error-affected regions of a flowcell can be selectively removed by automated analysis or GUI-assisted operations implemented in the SUGAR. The automated data-cleaning function based on sequence read quality (Phred) scores was applied to a public whole human genome sequencing data and we proved the overall mapping quality was improved. CONCLUSION: The detailed data evaluation and cleaning enabled by SUGAR would reduce technical problems in sequence read mapping, improving subsequent variant analysis that require high-quality sequence data and mapping results. Therefore, the software will be especially useful to control the quality of variant calls to the low population cells, e.g., cancers, in a sample with technical errors of sequencing procedures.

リンク情報
DOI
https://doi.org/10.1186/1471-2164-15-664
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/25103311
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133631
ID情報
  • DOI : 10.1186/1471-2164-15-664
  • PubMed ID : 25103311
  • PubMed Central 記事ID : PMC4133631

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