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Splicing Related Genetic Variants Analysis
Poster Title: Splicing Related Genetic Variants Analysis
Submitted on 02 Aug 2021
Author(s): Lisa George
Poster Views: 146
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Poster Information
Abstract: Although mutation detection using genomic DNA can detect mutations in splicing core elements, mutations that lead to abnormal splicing may be missed. For example, many mutations (including nonsense mutations, missense mutations, and synonymous mutations) may cause abnormal RNA splicing by changing the regulatory sequence. These mutations may also exert pathogenic effects by affecting RNA splicing. Therefore, it is very important to quickly and effectively find and confirm abnormal splicing mutations.Summary: With the rapid development of artificial intelligence, artificial intelligence method models have also been used in splicing related genetic variants analysis so as to speeds up the identification and analysis of splicing mutations. References: abuse »
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