首页>
外国专利>
METHOD FOR DETECTING STRUCTURAL VARIATION OF GENOME BASED ON MULTIPLE REFERENCE GENOME AND APPARATUS FOR DETECTING STRUCTURAL VARIATION
METHOD FOR DETECTING STRUCTURAL VARIATION OF GENOME BASED ON MULTIPLE REFERENCE GENOME AND APPARATUS FOR DETECTING STRUCTURAL VARIATION
展开▼
机译：基于多重参考基因组和结构变异检测装置的基因组结构变异检测方法
展开▼
页面导航
摘要
著录项
相似文献
摘要
According to the present invention, a method for detecting a structural variation of a genome based on a multiple reference genome comprises the steps of: receiving, by a computer device, sample sequence data; comparing, by the computer device, multiple reference genomic data and the sample sequence data to determine at least one k-mer read that is not present in the multiple reference genome among reads of the sample sequence data; mapping, by the computer device, the at least one k-mer read to standard reference genomic data to determine a candidate region and a breakpoint for a structural variation; and predicting, by the computer device, a structural variation type for the sample sequence data based on the breakpoint and a sequence mapping pattern according to the mapping result.;COPYRIGHT KIPO 2020
展开▼
