![一种鉴定肿瘤纯度样本的模型构建方法及应用](/CN/2019/1/186/images/201910933916.jpg)
基本信息:
- 专利标题: 一种鉴定肿瘤纯度样本的模型构建方法及应用
- 专利标题(英):Model construction method for identifying tumour purity sample and application thereof
- 申请号:CN201910933916.5 申请日:2019-09-29
- 公开(公告)号:CN110808081A 公开(公告)日:2020-02-18
- 发明人: 黄毅 , 易鑫 , 林浩翔 , 刘久成 , 吴玲清
- 申请人: 深圳吉因加医学检验实验室
- 申请人地址: 广东省深圳市坪山区坑梓街道中兴路14号5栋1-2层
- 专利权人: 深圳吉因加医学检验实验室
- 当前专利权人: 深圳吉因加医学检验实验室
- 当前专利权人地址: 广东省深圳市坪山区坑梓街道中兴路14号5栋1-2层
- 代理机构: 北京三聚阳光知识产权代理有限公司
- 代理人: 张琳琳
- 主分类号: G16B5/00
- IPC分类号: G16B5/00 ; G16B20/20
The invention belongs to the field of tumor purity detection, and especially relates to a model construction method for identifying a tumour purity sample and application thereof. The method comprisesthe steps of: based on targeted capture sequencing data of a tumor sample with known tumor purity, acquiring index data including a somatic cell copy number variation amplitude, heterozygote germlinemononucleotide variation and a somatic cell allele variation fraction; and associating the index data with the tumor purity of the tumor sample with known purity to construct an identification model.In the method, somatic mutation and germ cell variation are combined, the index data such as the somatic cell copy number variation amplitude, the heterozygote germline mononucleotide variation, themodel constructed by integrating the index data such as the somatic cell allele variation fraction and the like is used to solve the problem that the purity of tumors is difficult to identify due to few mutation sites in interval chip capture sequencing such as panel sequencing is solved, low-purity samples can be accurately identified, multiple cross confirmation among different indexes is achieved, and the reliability is high.
公开/授权文献:
- CN110808081B 一种鉴定肿瘤纯度样本的模型构建方法及应用 公开/授权日:2022-07-08