CN112289376A - 一种检测体细胞突变的方法及装置 - Google Patents
一种检测体细胞突变的方法及装置 Download PDFInfo
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序号 | 突变指标 | 只要满足以下其中一个指标就被过滤 |
1 | FET | <20 |
2 | NALLE | >1 |
3 | HP | >7 |
4 | SCS | >0.86 |
5 | MQRankSum | <1e-3 |
6 | FS | >30 |
7 | ReadPosRankSum | <1e-3 |
8 | MBQV | <20 |
9 | MPOS | <5 |
10 | MQ | <30 |
11 | AD | 肿瘤样本:>4;对照样本:<3 |
12 | DP | >20 |
13 | AF | 肿瘤样本:>0.02;对照样本:<0.01 |
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Cited By (4)
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CN113257347A (zh) * | 2021-05-14 | 2021-08-13 | 温州谱希医学检验实验室有限公司 | 注释后的突变检测结果文件的数据处理方法及相关设备 |
CN113674802A (zh) * | 2021-08-20 | 2021-11-19 | 深圳吉因加医学检验实验室 | 一种基于甲基化测序数据进行变异检测的方法及装置 |
CN114067908A (zh) * | 2021-11-23 | 2022-02-18 | 深圳基因家科技有限公司 | 一种评估单样本同源重组缺陷的方法、装置和存储介质 |
CN116312776A (zh) * | 2022-12-08 | 2023-06-23 | 上海生物制品研究所有限责任公司 | 一种检测差异化rna编辑位点的方法 |
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CN110846411A (zh) * | 2019-11-21 | 2020-02-28 | 上海仁东医学检验所有限公司 | 一种基于二代测序的单独肿瘤样本区分基因突变类型的方法 |
CN111755072A (zh) * | 2020-08-04 | 2020-10-09 | 深圳吉因加医学检验实验室 | 一种同时检测甲基化水平、基因组变异和插入片段的方法及装置 |
Cited By (5)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN113257347A (zh) * | 2021-05-14 | 2021-08-13 | 温州谱希医学检验实验室有限公司 | 注释后的突变检测结果文件的数据处理方法及相关设备 |
CN113674802A (zh) * | 2021-08-20 | 2021-11-19 | 深圳吉因加医学检验实验室 | 一种基于甲基化测序数据进行变异检测的方法及装置 |
CN114067908A (zh) * | 2021-11-23 | 2022-02-18 | 深圳基因家科技有限公司 | 一种评估单样本同源重组缺陷的方法、装置和存储介质 |
CN116312776A (zh) * | 2022-12-08 | 2023-06-23 | 上海生物制品研究所有限责任公司 | 一种检测差异化rna编辑位点的方法 |
CN116312776B (zh) * | 2022-12-08 | 2024-01-19 | 上海生物制品研究所有限责任公司 | 一种检测差异化rna编辑位点的方法 |
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