Tumor mutational load detecting method, device and storage medium
A technology of mutation load and tumor, which is applied in the field of tumor detection, can solve the problems of large differences, the inability to make accurate descriptions of mutation backgrounds, and the inability to guarantee the precise removal of germline gene mutations, so as to reduce dependence, reduce manpower consumption, and reduce Calculate the effect of resource consumption
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Embodiment 1
[0084] In the following examples, the training data: 360 cases of healthy population control samples passed through Shenzhen Yuce Biotechnology Co., Ltd. YuceOne Plus chip sequencing generated single nucleotide mutation frequency data and 110 cases of healthy population control samples passed through Shenzhen Yuce Biotechnology Co., Ltd. Indel mutation frequency data generated by YuceOne Plus chip sequencing. Test data: Mutation results obtained from 11 lung cancer patient tissue samples sequenced by YuceOne Plus chip of Shenzhen Yuce Biotechnology Co., Ltd., including single nucleotide mutation frequency data and Indel mutation frequency data.
[0085] 360 healthy control samples were sequenced by the YuceOne Plus chip of Shenzhen Yuce Biotechnology Co., Ltd., and the reads obtained from the sequencing were compared with the human reference genome to obtain the comparison results in BAM format. Then use Samtools software to convert the BAM format file into a pileup format fil...
Embodiment 2
[0092] 23 cases of various cancer tissue test samples were sequenced through the YuceOne Plus chip of Shenzhen Yuce Biotechnology Co., Ltd., and the obtained single nucleotide mutation frequency data and Indel mutation frequency data were calculated by the method of the present invention. TMB, and then the same samples and The paired control samples were used to calculate TMB by whole exome double-sample sequencing method. Fit the TMB obtained by the two methods, the fitting result R-square is 0.72, the Adjusted R-square is 0.68, and the Pearson correlation coefficient is 0.85 ( Figure 6 ). Comparison with the results of 11 cases of lung cancer in Example 1 shows that the method of the present invention can also be applied to TMB detection of other cancer types.
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