CN115244188A - 用于鉴定和定量核酸序列突变、表达、剪接变体、易位、拷贝数或甲基化变化的标记物 - Google Patents

用于鉴定和定量核酸序列突变、表达、剪接变体、易位、拷贝数或甲基化变化的标记物 Download PDF

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CN115244188A
CN115244188A CN202080048135.9A CN202080048135A CN115244188A CN 115244188 A CN115244188 A CN 115244188A CN 202080048135 A CN202080048135 A CN 202080048135A CN 115244188 A CN115244188 A CN 115244188A
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chain reaction
polymerase chain
nucleic acid
sequence
primer
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F·巴拉尼
M·D·巴科洛德
J·黄
A·H·米尔扎
P·B·菲恩伯格
S·F·贾迪纳
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Cornell University
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    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/178—Oligonucleotides characterized by their use miRNA, siRNA or ncRNA

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CN202080048135.9A 2019-05-03 2020-05-01 用于鉴定和定量核酸序列突变、表达、剪接变体、易位、拷贝数或甲基化变化的标记物 Pending CN115244188A (zh)

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US201962843032P 2019-05-03 2019-05-03
US62/843,032 2019-05-03
PCT/US2020/031044 WO2020227100A1 (en) 2019-05-03 2020-05-01 Markers for identifying and quantifying of nucleic acid sequence mutation, expression, splice variant, translocation, copy number, or methylation changes

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JP (2) JP2022530920A (enExample)
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AU (1) AU2020268885A1 (enExample)
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Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN117305312A (zh) * 2023-10-19 2023-12-29 西南大学 一个家蚕专一取食桑叶的决定基因Zfh3及其应用
CN118986863A (zh) * 2024-10-18 2024-11-22 四川新泌学生物科技有限公司 一种外阴用外泌体凝胶及其制备方法

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3127329A1 (en) 2019-01-24 2020-07-30 Mayo Foundation For Medical Education And Research Detecting endometrial cancer
US11702704B2 (en) 2019-10-31 2023-07-18 Mayo Foundation For Medical Education And Research Detecting ovarian cancer
EP4267763B1 (en) * 2020-12-24 2025-07-23 Life Technologies Corporation Compositions and methods for highly sensitive detection of target sequences in multiplex reactions
CA3211005A1 (en) * 2021-03-05 2022-09-09 Mayo Foundation For Medical Education And Research Detecting cervical cancer
WO2022246000A1 (en) * 2021-05-19 2022-11-24 City Of Hope Compositions and methods for determining dna methylation level in cancer
WO2023017001A1 (en) * 2021-08-09 2023-02-16 Epigenomics Ag Improved methods for detecting colorectal cancer
CA3268032A1 (en) * 2022-09-23 2024-03-28 Flagship Pioneering Innovations Vi, Llc NUCLEIC ACID AMPLIFICATION PROCESSES
WO2024154075A1 (en) * 2023-01-18 2024-07-25 Pixelgen Technologies Ab Gap-fill ligation and primer extension reactions employing exonuclease-resistant or capture moiety means
AU2024263920A1 (en) * 2023-04-24 2025-11-13 Saga Diagnostics Ab Detection of variants
WO2024259135A1 (en) 2023-06-13 2024-12-19 Intellia Therapeutics, Inc. Assays for analysis of ribonucleic acid (rna) molecules
US20250223652A1 (en) * 2024-01-05 2025-07-10 Harbinger Health, Inc. Tiered testing for high risk populations

Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103014155A (zh) * 2007-02-21 2013-04-03 奥斯陆大学医院Hf 新型癌症标记物
WO2015023285A1 (en) * 2013-08-15 2015-02-19 Xia Xueliang James Biomarkers for use in colorectal cancer
CN107002145A (zh) * 2014-10-08 2017-08-01 康奈尔大学 用于使用针对遗留预防的组合核酸酶、连接反应和聚合酶反应鉴定和相对定量核酸序列表达、剪接变体、易位、拷贝数或甲基化变化的方法
CN107667119A (zh) * 2015-05-12 2018-02-06 豪夫迈·罗氏有限公司 用于癌症的治疗和诊断方法
CN108350504A (zh) * 2015-06-24 2018-07-31 Ucl商业有限公司 膀胱癌的诊断方法
WO2019068082A1 (en) * 2017-09-29 2019-04-04 Arizona Board Of Regents On Behalf Of The University Of Arizona Dna methylation biomarkers for cancer diagnosing

Family Cites Families (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ATE342378T1 (de) * 1999-03-19 2006-11-15 Cornell Res Foundation Inc Verfahren das auf den gekoppelten reactionen der polymerase-kettenreaktion (pcr)-verdauung mit restriktionsenzymen und ligasenachweis basiert
EP2386654A1 (en) * 2005-05-02 2011-11-16 University of Southern California DNA Methylation markers associated with the CpG island methylator phenotype (cimp) in human colorectal cancer
SG11201404899VA (en) * 2012-02-14 2014-10-30 Univ Cornell Method for relative quantification of nucleic acid sequence, expression, or copy changes, using combined nuclease, ligation, and polymerase reactions
SI4056712T1 (sl) * 2012-09-20 2024-10-30 The Chinese University Of Hong Kong Neinvazivno določanje metiloma tumorja iz plazme
US10030272B2 (en) * 2015-02-27 2018-07-24 Mayo Foundation For Medical Education And Research Detecting gastrointestinal neoplasms
US10829804B2 (en) * 2015-03-23 2020-11-10 The University Of North Carolina At Chapel Hill Method for identification and enumeration of nucleic acid sequences, expression, splice variant, translocation, copy, or DNA methylation changes using combined nuclease, ligase, polymerase, terminal transferase, and sequencing reactions
WO2018087129A1 (en) * 2016-11-08 2018-05-17 Region Nordjylland, Aalborg University Hospital Colorectal cancer methylation markers

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103014155A (zh) * 2007-02-21 2013-04-03 奥斯陆大学医院Hf 新型癌症标记物
WO2015023285A1 (en) * 2013-08-15 2015-02-19 Xia Xueliang James Biomarkers for use in colorectal cancer
CN107002145A (zh) * 2014-10-08 2017-08-01 康奈尔大学 用于使用针对遗留预防的组合核酸酶、连接反应和聚合酶反应鉴定和相对定量核酸序列表达、剪接变体、易位、拷贝数或甲基化变化的方法
CN107667119A (zh) * 2015-05-12 2018-02-06 豪夫迈·罗氏有限公司 用于癌症的治疗和诊断方法
CN108350504A (zh) * 2015-06-24 2018-07-31 Ucl商业有限公司 膀胱癌的诊断方法
WO2019068082A1 (en) * 2017-09-29 2019-04-04 Arizona Board Of Regents On Behalf Of The University Of Arizona Dna methylation biomarkers for cancer diagnosing

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
LINYAN CHEN等: "Prognostic value of circulating cell-free DNA in patients with pancreatic cancer: A systemic review and meta-analysis", GENE, vol. 679, 30 December 2018 (2018-12-30), pages 328 - 334 *

Cited By (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN117305312A (zh) * 2023-10-19 2023-12-29 西南大学 一个家蚕专一取食桑叶的决定基因Zfh3及其应用
CN117305312B (zh) * 2023-10-19 2024-08-20 西南大学 一个家蚕专一取食桑叶的决定基因Zfh3及其应用
CN118986863A (zh) * 2024-10-18 2024-11-22 四川新泌学生物科技有限公司 一种外阴用外泌体凝胶及其制备方法

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SG11202112246UA (en) 2021-12-30
WO2020227100A8 (en) 2022-01-13
BR112021022084A2 (pt) 2022-02-08
EP3963095A1 (en) 2022-03-09
AU2020268885A1 (en) 2021-12-02
CA3135726A1 (en) 2020-11-12
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US20220243263A1 (en) 2022-08-04
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