Gene copy number amplification detection method and device, and readable medium

The invention discloses a gene copy number amplification detection method and device, and a readable medium. An amplification negative sample set and an amplification positive sample set are used as training sets, a result of a second independent detection method is used as a standard, a data statis...

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Bibliographische Detailangaben
Hauptverfasser: ZHENG LIMOU, WANG JIANQING, CHEN XUEJUN, DONG HUA, YANG SHUANG, ZHENG FANGKE, SHI YIN
Format: Patent
Sprache:chi ; eng
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Zusammenfassung:The invention discloses a gene copy number amplification detection method and device, and a readable medium. An amplification negative sample set and an amplification positive sample set are used as training sets, a result of a second independent detection method is used as a standard, a data statistical result of a small panel is used as a characteristic value, an XGBOOST model is constructed, and gene amplification state prediction is carried out. The copy number of the gene predicted to be amplified is corrected, a function relationship between the original copy number of the gene and the result of the second independent detection method is established by adopting a linear regression method, then the original copy number of the amplified gene is substituted into the function relationship, and the corrected copy number is calculated. The situation of multi-gene co-amplification and possible experimental deviation are fully considered, the situation of gene copy number amplification can be effectively detect