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Detecting method for disease markers of NGS data

2025-06-17 22:172550下载
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The present invention is characterized by selecting disease mutation markers based on a comparison and analysis method (allelic power difference, allelic depth tangent difference, allelic depth difference, geometric allelic difference, statistical allelic difference, and allelic imbalance ratio) and a weighted score for a locus function and creating a disease mutation marker rank by using a continuous variable itself used for a single nucleotide variant (SNV) calling in order to improve a biomarker search and excavation power, thereby improving compared to a conventional method the sensitivity of excavation of genome biomarkers corresponding to various cancers, drug-resistant cancers, rare diseases, chronic diseases, a risk of disease to a normal person, a phenotype, etc. by reverse classification.


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