Method and device for acquiring mutation sites of genes corresponding to endocrine and metabolism system
A metabolic system and gene locus technology, applied in the field of gene mutation site acquisition, can solve problems such as the limited number of mutation sites, the inability to determine the mutation status of the mutation sites at the same time, and the deviation of prediction results.
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no. 1 example
[0032] The embodiment of the present application provides a method for obtaining a gene mutation site corresponding to the endocrine and metabolic system, which is used to obtain the base mutation status of the mutation site of the gene related to the endocrine and metabolic 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 location 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 refere...
no. 2 example
[0108] This embodiment provides a device 200 for acquiring gene mutation sites corresponding to the endocrine and metabolic 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 detected wit...
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