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A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines

Received: 20 June 2018    Accepted:     Published: 22 June 2018
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Abstract

With the application and development of next generation sequencing technology, tumor genome sequencing has become widely available in clinical and research setting. Many groups have published germline variant interpretation and classification systems or tools for use in clinical laboratory reporting. However, interpretation and classification for somatic variants remains plenty of challenges. The meaning of tumor somatic variants for the process of the cancers is uncertain. Based on the standards and guidelines for the interpretation and reporting of sequence variants in cancer,and combined with other evaluation systems and tools, we developed a set of somatic mutation evaluation tools, to automatically apply the part of standards and guidelines, and provide the help for the researchers and clinical scientists.

DOI 10.11648/j.sd.20180602.18
Published in Science Discovery (Volume 6, Issue 2, April 2018)
Page(s) 124-129
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2024. Published by Science Publishing Group

Keywords

Sequence Variants in Cancer, Standards and Guidelines, Next-Generation Sequencing, Somatic Variants Classification

References
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Author Information
  • Biological Sciences & Medical Engineering, Southeast University, Nanjing, China

  • Biological Sciences & Medical Engineering, Southeast University, Nanjing, China

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  • APA Style

    Yue Hu, Yunfei Bai. (2018). A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines. Science Discovery, 6(2), 124-129. https://doi.org/10.11648/j.sd.20180602.18

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    ACS Style

    Yue Hu; Yunfei Bai. A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines. Sci. Discov. 2018, 6(2), 124-129. doi: 10.11648/j.sd.20180602.18

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    AMA Style

    Yue Hu, Yunfei Bai. A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines. Sci Discov. 2018;6(2):124-129. doi: 10.11648/j.sd.20180602.18

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  • @article{10.11648/j.sd.20180602.18,
      author = {Yue Hu and Yunfei Bai},
      title = {A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines},
      journal = {Science Discovery},
      volume = {6},
      number = {2},
      pages = {124-129},
      doi = {10.11648/j.sd.20180602.18},
      url = {https://doi.org/10.11648/j.sd.20180602.18},
      eprint = {https://download.sciencepg.com/pdf/10.11648.j.sd.20180602.18},
      abstract = {With the application and development of next generation sequencing technology, tumor genome sequencing has become widely available in clinical and research setting. Many groups have published germline variant interpretation and classification systems or tools for use in clinical laboratory reporting. However, interpretation and classification for somatic variants remains plenty of challenges. The meaning of tumor somatic variants for the process of the cancers is uncertain. Based on the standards and guidelines for the interpretation and reporting of sequence variants in cancer,and combined with other evaluation systems and tools, we developed a set of somatic mutation evaluation tools, to automatically apply the part of standards and guidelines, and provide the help for the researchers and clinical scientists.},
     year = {2018}
    }
    

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    T1  - A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines
    AU  - Yue Hu
    AU  - Yunfei Bai
    Y1  - 2018/06/22
    PY  - 2018
    N1  - https://doi.org/10.11648/j.sd.20180602.18
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    JO  - Science Discovery
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    AB  - With the application and development of next generation sequencing technology, tumor genome sequencing has become widely available in clinical and research setting. Many groups have published germline variant interpretation and classification systems or tools for use in clinical laboratory reporting. However, interpretation and classification for somatic variants remains plenty of challenges. The meaning of tumor somatic variants for the process of the cancers is uncertain. Based on the standards and guidelines for the interpretation and reporting of sequence variants in cancer,and combined with other evaluation systems and tools, we developed a set of somatic mutation evaluation tools, to automatically apply the part of standards and guidelines, and provide the help for the researchers and clinical scientists.
    VL  - 6
    IS  - 2
    ER  - 

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