CN106845154B - 一种用于ffpe样本拷贝数变异检测的装置 - Google Patents
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CN108733979A (zh) * | 2017-10-30 | 2018-11-02 | 成都凡迪医疗器械有限公司 | Nipt的gc含量校准方法、装置及计算机可读存储介质 |
CN109979535B (zh) * | 2017-12-28 | 2021-03-02 | 浙江安诺优达生物科技有限公司 | 一种胚胎植入前遗传学筛查装置 |
CN109979529B (zh) * | 2017-12-28 | 2021-01-08 | 北京安诺优达医学检验实验室有限公司 | Cnv检测装置 |
CN110797088B (zh) * | 2019-10-17 | 2020-09-15 | 南京医基云医疗数据研究院有限公司 | 全基因组重测序分析及用于全基因组重测序分析的方法 |
CN111477275B (zh) * | 2020-04-02 | 2020-12-25 | 上海之江生物科技股份有限公司 | 微生物目标片段中多拷贝区域的识别方法、装置及应用 |
Citations (10)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN104133914A (zh) * | 2014-08-12 | 2014-11-05 | 厦门万基生物科技有限公司 | 一种消除高通量测序引入的gc偏差及对染色体拷贝数变异的检测方法 |
CN104560697A (zh) * | 2015-01-26 | 2015-04-29 | 上海美吉生物医药科技有限公司 | 一种基因组拷贝数不稳定性的检测装置 |
CN104662156A (zh) * | 2012-08-17 | 2015-05-27 | 美国陶氏益农公司 | 玉米非翻译区域用于植物中转基因表达的用途 |
CN105483229A (zh) * | 2015-12-21 | 2016-04-13 | 广东腾飞基因科技有限公司 | 一种检测胎儿染色体非整倍体的方法及*** |
CN105555968A (zh) * | 2013-05-24 | 2016-05-04 | 塞昆纳姆股份有限公司 | 遗传变异的非侵入性评估方法和过程 |
CN105574361A (zh) * | 2015-11-05 | 2016-05-11 | 上海序康医疗科技有限公司 | 一种检测基因组拷贝数变异的方法 |
CN105722994A (zh) * | 2013-06-17 | 2016-06-29 | 维里纳塔健康公司 | 用于确定性染色体中的拷贝数变异的方法 |
CN105760712A (zh) * | 2016-03-01 | 2016-07-13 | 西安电子科技大学 | 一种基于新一代测序的拷贝数变异检测方法 |
CN105814574A (zh) * | 2013-10-04 | 2016-07-27 | 塞昆纳姆股份有限公司 | 遗传变异的非侵入性评估的方法和过程 |
CN106156543A (zh) * | 2016-06-22 | 2016-11-23 | 厦门艾德生物医药科技股份有限公司 | 一种肿瘤ctDNA信息统计方法 |
-
2017
- 2017-02-07 CN CN201710067086.3A patent/CN106845154B/zh active Active
Patent Citations (10)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN104662156A (zh) * | 2012-08-17 | 2015-05-27 | 美国陶氏益农公司 | 玉米非翻译区域用于植物中转基因表达的用途 |
CN105555968A (zh) * | 2013-05-24 | 2016-05-04 | 塞昆纳姆股份有限公司 | 遗传变异的非侵入性评估方法和过程 |
CN105722994A (zh) * | 2013-06-17 | 2016-06-29 | 维里纳塔健康公司 | 用于确定性染色体中的拷贝数变异的方法 |
CN105814574A (zh) * | 2013-10-04 | 2016-07-27 | 塞昆纳姆股份有限公司 | 遗传变异的非侵入性评估的方法和过程 |
CN104133914A (zh) * | 2014-08-12 | 2014-11-05 | 厦门万基生物科技有限公司 | 一种消除高通量测序引入的gc偏差及对染色体拷贝数变异的检测方法 |
CN104560697A (zh) * | 2015-01-26 | 2015-04-29 | 上海美吉生物医药科技有限公司 | 一种基因组拷贝数不稳定性的检测装置 |
CN105574361A (zh) * | 2015-11-05 | 2016-05-11 | 上海序康医疗科技有限公司 | 一种检测基因组拷贝数变异的方法 |
CN105483229A (zh) * | 2015-12-21 | 2016-04-13 | 广东腾飞基因科技有限公司 | 一种检测胎儿染色体非整倍体的方法及*** |
CN105760712A (zh) * | 2016-03-01 | 2016-07-13 | 西安电子科技大学 | 一种基于新一代测序的拷贝数变异检测方法 |
CN106156543A (zh) * | 2016-06-22 | 2016-11-23 | 厦门艾德生物医药科技股份有限公司 | 一种肿瘤ctDNA信息统计方法 |
Non-Patent Citations (3)
Title |
---|
"CODEX:a normalization and copy number variation detection method for whole exome sequencing";Yuchao Jiang等;《Nucleic Acids Research》;20150123;第43卷(第6期);第1-12页 * |
"新一代测序的拷贝数变异检测算法研究与设计";李燕等;《生物信息学》;20150930;第13卷(第3期);第186-191页 * |
"苏尼特羊拷贝数变异的基因组分布特征研究";刘佳森等;《中国畜牧兽医》;20131231;第40卷(第10期);第173-178页 * |
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