CN113257346A - Method for evaluating HRD score based on low-depth WGS - Google Patents
Method for evaluating HRD score based on low-depth WGS Download PDFInfo
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- CN113257346A CN113257346A CN202110716079.8A CN202110716079A CN113257346A CN 113257346 A CN113257346 A CN 113257346A CN 202110716079 A CN202110716079 A CN 202110716079A CN 113257346 A CN113257346 A CN 113257346A
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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CN202210674201.4A CN114999568B (en) | 2021-06-28 | 2021-06-28 | Calculation method of telomere allele imbalance TAI |
CN202110716079.8A CN113257346B (en) | 2021-06-28 | 2021-06-28 | Method for evaluating HRD score based on low-depth WGS |
CN202111154180.5A CN113948151B (en) | 2021-06-28 | 2021-06-28 | Processing method of low-depth WGS (WGS) offline data |
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CN202210674201.4A Division CN114999568B (en) | 2021-06-28 | 2021-06-28 | Calculation method of telomere allele imbalance TAI |
CN202111154180.5A Division CN113948151B (en) | 2021-06-28 | 2021-06-28 | Processing method of low-depth WGS (WGS) offline data |
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CN202111154180.5A Active CN113948151B (en) | 2021-06-28 | 2021-06-28 | Processing method of low-depth WGS (WGS) offline data |
CN202210674201.4A Active CN114999568B (en) | 2021-06-28 | 2021-06-28 | Calculation method of telomere allele imbalance TAI |
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CN202210674201.4A Active CN114999568B (en) | 2021-06-28 | 2021-06-28 | Calculation method of telomere allele imbalance TAI |
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Cited By (5)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN114067909A (en) * | 2021-11-23 | 2022-02-18 | 深圳基因家科技有限公司 | Method, device and storage medium for correcting homologous recombination defect score |
CN114242170A (en) * | 2021-12-21 | 2022-03-25 | 深圳吉因加医学检验实验室 | Method and device for evaluating homologous recombination repair defects and storage medium |
CN114300053A (en) * | 2021-12-29 | 2022-04-08 | 苏州绘真医学检验有限公司 | Homologous recombination defective gene analysis method |
CN115862733A (en) * | 2023-02-27 | 2023-03-28 | 广州嘉检医学检测有限公司 | Method for detecting heterozygosity loss based on medium-depth whole genome next generation sequencing |
CN115985399A (en) * | 2023-03-20 | 2023-04-18 | 广州迈景基因医学科技有限公司 | HRD panel site selection optimization method and system for high-throughput sequencing |
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CN111883211A (en) * | 2020-08-07 | 2020-11-03 | 张哲� | Gene scar for representing HRD homologous recombination repair defect and identification method |
CN112410423A (en) * | 2020-11-03 | 2021-02-26 | 南京世和基因生物技术股份有限公司 | Marker for deletion of homologous recombination, detection method and detection system |
CN112802548A (en) * | 2021-01-07 | 2021-05-14 | 深圳吉因加医学检验实验室 | Method for predicting allele-specific copy number variation of single-sample whole genome |
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EP3080292B1 (en) * | 2013-12-09 | 2022-02-02 | Institut Curie | Methods for detecting inactivation of the homologous recombination pathway (brca1/2) in human tumors |
EP3180447B1 (en) * | 2014-08-15 | 2020-03-11 | Myriad Genetics, Inc. | Methods and materials for assessing homologous recombination deficiency |
WO2016118726A2 (en) * | 2015-01-21 | 2016-07-28 | Sangamo Biosciences, Inc. | Methods and compositions for identification of highly specific nucleases |
CN105986011B (en) * | 2015-01-30 | 2019-10-15 | 深圳华大基因研究院 | A kind of detection method of loss of heterozygosity |
CN107287285A (en) * | 2017-03-28 | 2017-10-24 | 上海至本生物科技有限公司 | It is a kind of to predict the method that homologous recombination absent assignment and patient respond to treatment of cancer |
CN111676277B (en) * | 2020-08-12 | 2020-12-15 | 臻和(北京)生物科技有限公司 | Method and kit for determining unstable genome based on second-generation sequencing technology |
CN112164420B (en) * | 2020-09-07 | 2021-07-20 | 厦门艾德生物医药科技股份有限公司 | Method for establishing genome scar model |
CN112397145A (en) * | 2020-11-19 | 2021-02-23 | 河南省肿瘤医院 | HRD (high resolution display) score calculation method based on chip detection |
CN112669906B (en) * | 2020-11-25 | 2021-09-28 | 深圳华大基因股份有限公司 | Detection method, device, terminal device and computer-readable storage medium for measuring genome instability |
CN112226495B (en) * | 2020-12-18 | 2021-03-16 | 北京迈基诺基因科技股份有限公司 | Method for detecting DNA homologous recombination abnormality and application thereof |
CN112820351A (en) * | 2021-03-01 | 2021-05-18 | 江苏医联生物科技有限公司 | Method for detecting mutation and HRD (high resolution contrast) score guiding medication of tumor patient |
CN112980834B (en) * | 2021-04-22 | 2021-08-17 | 菁良基因科技(深圳)有限公司 | Homologous recombination defect repair reference product and preparation method and kit thereof |
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2021
- 2021-06-28 CN CN202110716079.8A patent/CN113257346B/en active Active
- 2021-06-28 CN CN202111154180.5A patent/CN113948151B/en active Active
- 2021-06-28 CN CN202210674201.4A patent/CN114999568B/en active Active
Patent Citations (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN111883211A (en) * | 2020-08-07 | 2020-11-03 | 张哲� | Gene scar for representing HRD homologous recombination repair defect and identification method |
CN112410423A (en) * | 2020-11-03 | 2021-02-26 | 南京世和基因生物技术股份有限公司 | Marker for deletion of homologous recombination, detection method and detection system |
CN112802548A (en) * | 2021-01-07 | 2021-05-14 | 深圳吉因加医学检验实验室 | Method for predicting allele-specific copy number variation of single-sample whole genome |
Non-Patent Citations (3)
Title |
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EECKHOUTTE A.等: "ShallowHRD: detection of homologous recombination deficiency from shallow whole genome sequencing", 《BIOINFORMATICS》 * |
POORNIMA VIJAYAN 等: "A brief overview of homologous recombination deficiency testing in cancers for the "Next-Generation" pathologist", 《JOURNAL OF PATHOLOGY OF NEPAL》 * |
XAVIER M.DE LUCA等: "Using whole-genome sequencing data to derive the homologous recombination deficiency scores", 《NPJ BREAST CANCER》 * |
Cited By (6)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN114067909A (en) * | 2021-11-23 | 2022-02-18 | 深圳基因家科技有限公司 | Method, device and storage medium for correcting homologous recombination defect score |
CN114067909B (en) * | 2021-11-23 | 2022-08-30 | 北京吉因加医学检验实验室有限公司 | Method, device and storage medium for correcting homologous recombination defect score |
CN114242170A (en) * | 2021-12-21 | 2022-03-25 | 深圳吉因加医学检验实验室 | Method and device for evaluating homologous recombination repair defects and storage medium |
CN114300053A (en) * | 2021-12-29 | 2022-04-08 | 苏州绘真医学检验有限公司 | Homologous recombination defective gene analysis method |
CN115862733A (en) * | 2023-02-27 | 2023-03-28 | 广州嘉检医学检测有限公司 | Method for detecting heterozygosity loss based on medium-depth whole genome next generation sequencing |
CN115985399A (en) * | 2023-03-20 | 2023-04-18 | 广州迈景基因医学科技有限公司 | HRD panel site selection optimization method and system for high-throughput sequencing |
Also Published As
Publication number | Publication date |
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CN113948151A (en) | 2022-01-18 |
CN113257346B (en) | 2021-10-19 |
CN114999568A (en) | 2022-09-02 |
CN113948151B (en) | 2022-07-05 |
CN114999568B (en) | 2023-04-18 |
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Inventor after: Lou Feng Inventor after: Wang Xiaojia Inventor after: Liu Kai Inventor after: Cao Wenming Inventor after: Zhang Mengmeng Inventor after: Guo Jing Inventor after: Sun Hong Inventor after: Cao Shanbai Inventor before: Lou Feng Inventor before: Liu Kai Inventor before: Zhang Mengmeng Inventor before: Guo Jing Inventor before: Sun Hong Inventor before: Cao Shanbai |
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Effective date of registration: 20230605 Address after: 102600 1601, floor 16, building 5, yard 18, Kechuang 13th Street, Beijing Economic and Technological Development Zone, Daxing District, Beijing Patentee after: Beijing Xiangxin Biotechnology Co.,Ltd. Patentee after: Tianjin Xiangxin Biotechnology Co.,Ltd. Patentee after: Tianjin Xiangxin Medical Instrument Co.,Ltd. Patentee after: ZHEJIANG CANCER Hospital Address before: 102600 1601, floor 16, building 5, yard 18, Kechuang 13th Street, Beijing Economic and Technological Development Zone, Daxing District, Beijing Patentee before: Beijing Xiangxin Biotechnology Co.,Ltd. Patentee before: Tianjin Xiangxin Biotechnology Co.,Ltd. Patentee before: Tianjin Xiangxin Medical Instrument Co.,Ltd. |