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

Yue Hu; Yunfei Bai

doi:doi:10.11648/j.sd.20180602.18

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

Yue Hu, Yunfei Bai

Published in Science Discovery (Volume 6, Issue 2)

Received: 20 June 2018 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.

Published in	Science Discovery (Volume 6, Issue 2)
DOI	10.11648/j.sd.20180602.18
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), 2018. Published by Science Publishing Group

Keywords

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

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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://article.sciencepublishinggroup.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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TY  - JOUR
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
DO  - 10.11648/j.sd.20180602.18
T2  - Science Discovery
JF  - Science Discovery
JO  - Science Discovery
SP  - 124
EP  - 129
PB  - Science Publishing Group
SN  - 2331-0650
UR  - https://doi.org/10.11648/j.sd.20180602.18
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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Author Information

Yue Hu

Biological Sciences & Medical Engineering, Southeast University, Nanjing, China
Yunfei Bai

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

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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

Copy | Download

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://article.sciencepublishinggroup.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}
}

Copy | Download

TY  - JOUR
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
DO  - 10.11648/j.sd.20180602.18
T2  - Science Discovery
JF  - Science Discovery
JO  - Science Discovery
SP  - 124
EP  - 129
PB  - Science Publishing Group
SN  - 2331-0650
UR  - https://doi.org/10.11648/j.sd.20180602.18
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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