Method and device for acquiring mutation site of corresponding gene of urogenital system
A reproductive system and gene locus technology, applied in the field of mutation site acquisition, can solve the problems of inability to simultaneously determine mutation status, limited number of mutation sites, biased prediction results, etc.
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[0032] The embodiment of the present application provides a method for obtaining mutation sites of genes corresponding to the urinary and reproductive system, which is used to obtain the base mutation status of the mutation sites of genes related to the urinary and reproductive system in the gene to be tested. See figure 2 , the method includes:
[0033] Step S110: Compare multiple short sequences of the gene to be tested with the reference genome to obtain preliminary mutation site information of the gene to be tested, and the preliminary mutation site information includes mutation bases of multiple preliminary mutation sites And the position information of each preliminary mutation site.
[0034] First, multiple short sequences of the gene to be tested are obtained, which can be output through a second-generation sequencing platform. Align the short sequence of the gene to be tested with the reference genome. For example, if the gene to be tested is a human gene, the ref...
no. 2 example
[0108] This embodiment provides a device 200 for acquiring mutation sites of genes corresponding to the urinary and reproductive systems. Please refer to Figure 4 , the device 200 includes:
[0109] The comparison module 210 is used to compare the data of multiple short sequences of the gene to be tested with the reference genome to obtain preliminary variation site information of the gene to be tested, and the preliminary variation site information includes a plurality of preliminary variation sites The mutated bases and the position information of each preliminary mutated site.
[0110] The filtering module 220 is used to delete the variable sites that do not meet the preset retention conditions among the multiple preliminary variable sites according to the preliminary variable site information, and delete the variable sites in the gene to be tested obtained after deletion as the detection point.
[0111] The comparison module 230 is used to compare the site to be tested ...
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