Genomic Variant Classifier Tool

Lecture Notes in Networks and Systems(2018)

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摘要
The exome or genome based high throughput screening techniques are becoming a definitive criterion in the conventional clinical analysis of the genetic diseases. However, pathogenic classification of an identified variant, is still a manual and time consuming process for clinical geneticists. Thus, to facilitate the variant classification process, we have developed GeVaCT, a Java based tool that implements a classification approach based on the literature review of cardiac arrhythmia syndromes. Furthermore, the adoption of this automated knowledge engineer by the clinical geneticists will aid to build a knowledge base for the evolution of the variant classification process by use of novel machine learning approaches.
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关键词
Variant classification,Automated knowledge engineer,Genomic variant,Cardiac arrhythmia syndromes
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