A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines
Science Discovery
Volume 6, Issue 2, April 2018, Pages: 124-129
Received: Jun. 20, 2018; Published: Jun. 22, 2018
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Authors
Yue Hu, Biological Sciences & Medical Engineering, Southeast University, Nanjing, China
Yunfei Bai, Biological Sciences & Medical Engineering, Southeast University, Nanjing, China
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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.
Keywords
Sequence Variants in Cancer, Standards and Guidelines, Next-Generation Sequencing, Somatic Variants Classification
To cite this article
Yue Hu, Yunfei Bai, A Tool for the Interpretation of Sequence Variants in Cancer Based on the Standard and Guidelines, Science Discovery. Vol. 6, No. 2, 2018, pp. 124-129. doi: 10.11648/j.sd.20180602.18
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