JP7123975B2 - 無細胞dnaについての体細胞起源または生殖系列起源の識別 - Google Patents
無細胞dnaについての体細胞起源または生殖系列起源の識別 Download PDFInfo
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- JP7123975B2 JP7123975B2 JP2019563118A JP2019563118A JP7123975B2 JP 7123975 B2 JP7123975 B2 JP 7123975B2 JP 2019563118 A JP2019563118 A JP 2019563118A JP 2019563118 A JP2019563118 A JP 2019563118A JP 7123975 B2 JP7123975 B2 JP 7123975B2
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- C12Q1/6869—Methods for sequencing
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- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- 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
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
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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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- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/20—Sequence assembly
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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Priority Applications (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| JP2022074644A JP7513653B2 (ja) | 2017-05-16 | 2022-04-28 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
| JP2024078860A JP2024105539A (ja) | 2017-05-16 | 2024-05-14 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201762507127P | 2017-05-16 | 2017-05-16 | |
| US62/507,127 | 2017-05-16 | ||
| PCT/US2018/033038 WO2018213498A1 (en) | 2017-05-16 | 2018-05-16 | Identification of somatic or germline origin for cell-free dna |
Related Child Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2022074644A Division JP7513653B2 (ja) | 2017-05-16 | 2022-04-28 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2020521442A JP2020521442A (ja) | 2020-07-27 |
| JP2020521442A5 JP2020521442A5 (enExample) | 2021-07-26 |
| JP7123975B2 true JP7123975B2 (ja) | 2022-08-23 |
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| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2019563118A Active JP7123975B2 (ja) | 2017-05-16 | 2018-05-16 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
| JP2022074644A Active JP7513653B2 (ja) | 2017-05-16 | 2022-04-28 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
| JP2024078860A Pending JP2024105539A (ja) | 2017-05-16 | 2024-05-14 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
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| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2022074644A Active JP7513653B2 (ja) | 2017-05-16 | 2022-04-28 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
| JP2024078860A Pending JP2024105539A (ja) | 2017-05-16 | 2024-05-14 | 無細胞dnaについての体細胞起源または生殖系列起源の識別 |
Country Status (6)
| Country | Link |
|---|---|
| US (2) | US20200202224A1 (enExample) |
| EP (2) | EP4461826A3 (enExample) |
| JP (3) | JP7123975B2 (enExample) |
| CN (2) | CN110914450B (enExample) |
| ES (1) | ES2991960T3 (enExample) |
| WO (1) | WO2018213498A1 (enExample) |
Families Citing this family (21)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP2946345B1 (en) | 2013-01-17 | 2024-04-03 | Personalis, Inc. | Methods and systems for genetic analysis |
| EP4524972A3 (en) | 2013-05-10 | 2025-06-18 | Foundation Medicine, Inc. | Analysis of genetic variants |
| EP4488686A3 (en) * | 2016-04-14 | 2025-04-30 | Guardant Health, Inc. | Methods for early detection of cancer |
| EP3682035B1 (en) * | 2017-09-15 | 2025-02-05 | The Regents of the University of California | Detecting somatic single nucleotide variants from cell-free nucleic acid with application to minimal residual disease monitoring |
| US11814750B2 (en) | 2018-05-31 | 2023-11-14 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US10801064B2 (en) | 2018-05-31 | 2020-10-13 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| EP4055610A4 (en) | 2019-11-05 | 2023-11-29 | Personalis, Inc. | ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES |
| US20240004969A1 (en) * | 2020-04-17 | 2024-01-04 | Children's Hospital Los Angeles | Watermarking of genomic sequencing data |
| JP2023529838A (ja) * | 2020-06-05 | 2023-07-12 | ファウンデーション・メディシン・インコーポレイテッド | 生殖系列ゲノム配列から体細胞ゲノム配列を区別するための方法及びシステム |
| CN115497556A (zh) * | 2021-06-18 | 2022-12-20 | 广州燃石医学检验所有限公司 | 一种用于区分体细胞突变和种系突变的方法 |
| WO2023284260A1 (zh) * | 2021-07-12 | 2023-01-19 | 广州燃石医学检验所有限公司 | 基于血液测序的肿瘤内异质性的评估方法及其用于预测免疫疗法的应答 |
| CN113278706B (zh) * | 2021-07-23 | 2021-11-12 | 广州燃石医学检验所有限公司 | 一种用于区分体细胞突变和种系突变的方法 |
| CN113462768B (zh) * | 2021-07-29 | 2023-05-30 | 中国医学科学院整形外科医院 | 一种利用ddPCR检测小耳畸形患者ECR区域的拷贝数的引物及试剂盒 |
| EP4413580A4 (en) | 2021-10-05 | 2025-08-13 | Personalis Inc | PERSONALIZED TESTS FOR PERSONALIZED CANCER MONITORING |
| CN114613432B (zh) * | 2021-12-14 | 2024-10-22 | 中国科学院动物研究所 | 一种基于基因组稀有突变负荷变化和基因功能关联发现分子标志物的方法及系统 |
| US20230323449A1 (en) * | 2021-12-17 | 2023-10-12 | Twist Bioscience Corporation | Compositions and methods for detection of variants |
| US20230215513A1 (en) * | 2021-12-31 | 2023-07-06 | Sophia Genetics S.A. | Methods and systems for detecting tumor mutational burden |
| KR102544002B1 (ko) * | 2022-03-10 | 2023-06-16 | 주식회사 아이엠비디엑스 | 체세포 변이 및 생식세포 변이를 구별하는 방법 |
| CN114898802B (zh) * | 2022-07-14 | 2022-09-30 | 臻和(北京)生物科技有限公司 | 基于血浆游离dna甲基化测序数据的末端序列频率分布特征确定方法、评价方法及装置 |
| US20240071628A1 (en) * | 2022-08-24 | 2024-02-29 | Guardant Health, Inc. | Database for therapeutic interventions |
| US20250140343A1 (en) * | 2023-10-30 | 2025-05-01 | Myriad Women's Health, Inc. | Methods for improving minimal residual disease assays |
Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2015164432A1 (en) | 2014-04-21 | 2015-10-29 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| JP2015535681A (ja) | 2012-09-04 | 2015-12-17 | ガーダント ヘルス, インコーポレイテッド | まれな変異およびコピー数多型を検出するためのシステムおよび方法 |
| WO2016109452A1 (en) | 2014-12-31 | 2016-07-07 | Guardant Health , Inc. | Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results |
| WO2016127944A1 (en) | 2015-02-10 | 2016-08-18 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| WO2016149261A1 (en) | 2015-03-16 | 2016-09-22 | Personal Genome Diagnostics, Inc. | Systems and methods for analyzing nucleic acid |
Family Cites Families (11)
| Publication number | Priority date | Publication date | Assignee | Title |
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| US6582908B2 (en) | 1990-12-06 | 2003-06-24 | Affymetrix, Inc. | Oligonucleotides |
| US20030017081A1 (en) | 1994-02-10 | 2003-01-23 | Affymetrix, Inc. | Method and apparatus for imaging a sample on a device |
| US8835358B2 (en) | 2009-12-15 | 2014-09-16 | Cellular Research, Inc. | Digital counting of individual molecules by stochastic attachment of diverse labels |
| US10388403B2 (en) * | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| US10196681B2 (en) * | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US11261494B2 (en) * | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| WO2014149134A2 (en) | 2013-03-15 | 2014-09-25 | Guardant Health Inc. | Systems and methods to detect rare mutations and copy number variation |
| EP4253558B1 (en) * | 2013-03-15 | 2025-07-02 | The Board of Trustees of the Leland Stanford Junior University | Identification and use of circulating nucleic acid tumor markers |
| US20160201131A1 (en) * | 2014-10-11 | 2016-07-14 | Yan Wang | Method for Identifying Drug Resistance Related Mutations |
| EP3334834B1 (en) * | 2015-08-12 | 2020-05-13 | Circulogene Theranostics, LLC | Method of preparing cell free nucleic acid molecules by in situ amplification |
| US20170058332A1 (en) * | 2015-09-02 | 2017-03-02 | Guardant Health, Inc. | Identification of somatic mutations versus germline variants for cell-free dna variant calling applications |
-
2018
- 2018-05-16 EP EP24201910.7A patent/EP4461826A3/en active Pending
- 2018-05-16 CN CN201880047621.1A patent/CN110914450B/zh active Active
- 2018-05-16 JP JP2019563118A patent/JP7123975B2/ja active Active
- 2018-05-16 EP EP18802961.5A patent/EP3625341B1/en active Active
- 2018-05-16 WO PCT/US2018/033038 patent/WO2018213498A1/en not_active Ceased
- 2018-05-16 ES ES18802961T patent/ES2991960T3/es active Active
- 2018-05-16 CN CN202410873100.9A patent/CN118711654A/zh active Pending
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2019
- 2019-11-08 US US16/678,060 patent/US20200202224A1/en active Pending
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2022
- 2022-04-28 JP JP2022074644A patent/JP7513653B2/ja active Active
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2024
- 2024-05-14 JP JP2024078860A patent/JP2024105539A/ja active Pending
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2025
- 2025-04-02 US US19/098,448 patent/US20250292103A1/en active Pending
Patent Citations (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2015535681A (ja) | 2012-09-04 | 2015-12-17 | ガーダント ヘルス, インコーポレイテッド | まれな変異およびコピー数多型を検出するためのシステムおよび方法 |
| WO2015164432A1 (en) | 2014-04-21 | 2015-10-29 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| WO2016109452A1 (en) | 2014-12-31 | 2016-07-07 | Guardant Health , Inc. | Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results |
| WO2016127944A1 (en) | 2015-02-10 | 2016-08-18 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| WO2016149261A1 (en) | 2015-03-16 | 2016-09-22 | Personal Genome Diagnostics, Inc. | Systems and methods for analyzing nucleic acid |
Also Published As
| Publication number | Publication date |
|---|---|
| EP3625341B1 (en) | 2024-09-25 |
| CN110914450B (zh) | 2024-07-02 |
| EP4461826A3 (en) | 2025-05-14 |
| JP7513653B2 (ja) | 2024-07-09 |
| JP2020521442A (ja) | 2020-07-27 |
| EP3625341A4 (en) | 2021-05-19 |
| JP2022110013A (ja) | 2022-07-28 |
| WO2018213498A1 (en) | 2018-11-22 |
| US20200202224A1 (en) | 2020-06-25 |
| EP3625341C0 (en) | 2024-09-25 |
| ES2991960T3 (es) | 2024-12-05 |
| EP3625341A1 (en) | 2020-03-25 |
| US20250292103A1 (en) | 2025-09-18 |
| CN110914450A (zh) | 2020-03-24 |
| EP4461826A2 (en) | 2024-11-13 |
| JP2024105539A (ja) | 2024-08-06 |
| CN118711654A (zh) | 2024-09-27 |
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