Evaluation processing method for probability of influence of gene mutation sites on splicing

The invention discloses a method for evaluating and processing the possibility that a gene mutation site affects splicing, and the method comprises the following steps: importing a mutation site to be detected into analysis software to obtain splicing possibility data of the mutation site; configuri...

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Bibliographische Detailangaben
Hauptverfasser: LIANG MENGMENG, XU ZHOUHENG, LIU JING
Format: Patent
Sprache:chi ; eng
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Zusammenfassung:The invention discloses a method for evaluating and processing the possibility that a gene mutation site affects splicing, and the method comprises the following steps: importing a mutation site to be detected into analysis software to obtain splicing possibility data of the mutation site; configuring a weight factor corresponding to each analysis software; configuring a weight factor for analysis software, establishing an evaluation model, calculating a total score of feasibility, and giving the feasibility judgment; performing a mini-gene experiment on the to-be-detected mutation site to obtain an experiment result; and evaluating the splicing influence possibility of the mutation site to be detected according to the feasibility judgment until the feasibility judgment and the experimental result have no deviation. According to the method, different literatures and databases are integrated, the weight factors of the scoring items are optimized step by step, the splicing possibility of the mutation sites is e