发明名称 METHOD AND SYSTEM FOR TESTING FUSION GENE
摘要 Disclosed is a method for testing fusion gene. The method comprises: aligning pair-end sequencing data to a whole-genome reference sequence to obtain the first PE group data, the first SE group data, and the first unmap group data; aligning the first unmap group data to a transcript reference sequence to obtain the second SE group data and the second unmap group data; aligning the second unmap group data to a transcript reference sequence to obtain the third unmap group data; estimating insertsize to obtain the proportion of the pair-ends sequenced; merging the SE group data; obtaining a primary candidate set and a fusiongene pair candidate set by combining PE data relation; aligning the half-unmap data to the merging gene sequence of the candidate set to obtain a potential region of a gene fusion breakpoint where the half-unmap locates; obtaining useful-unmap data; fusion simulating the fusion-gene pair candidate set to obtain a fusion sequence being used as a reference sequence and being aligned to the useful-unmap data to obtain fusion gene information. The present invention also provides a system for testing the fusion gene in a sample to be tested.
申请公布号 WO2013097257(A1) 申请公布日期 2013.07.04
申请号 WO2011CN85216 申请日期 2011.12.31
申请人 BGI SHENZHEN CO., LIMITED;BGI SHENZHEN;JIA, WENLONG;QIU, KUNLONG;GUO, GUANGWU;HE, MINGHUI;WANG, JUN;WANG, JIAN;YANG, HUANMING 发明人 JIA, WENLONG;QIU, KUNLONG;GUO, GUANGWU;HE, MINGHUI;WANG, JUN;WANG, JIAN;YANG, HUANMING
分类号 C12Q1/68 主分类号 C12Q1/68
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