CA3069754A1 - Cancer detection and classification using methylome analysis - Google Patents
Cancer detection and classification using methylome analysis Download PDFInfo
- Publication number
- CA3069754A1 CA3069754A1 CA3069754A CA3069754A CA3069754A1 CA 3069754 A1 CA3069754 A1 CA 3069754A1 CA 3069754 A CA3069754 A CA 3069754A CA 3069754 A CA3069754 A CA 3069754A CA 3069754 A1 CA3069754 A1 CA 3069754A1
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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
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- 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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- 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
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6804—Nucleic acid analysis using immunogens
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- C—CHEMISTRY; METALLURGY
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- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6869—Methods for sequencing
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- G—PHYSICS
- G06—COMPUTING OR CALCULATING; COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F18/00—Pattern recognition
- G06F18/20—Analysing
- G06F18/24—Classification techniques
- G06F18/241—Classification techniques relating to the classification model, e.g. parametric or non-parametric approaches
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- G—PHYSICS
- G06—COMPUTING OR CALCULATING; COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N20/00—Machine learning
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- G—PHYSICS
- G06—COMPUTING OR CALCULATING; COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/02—Neural networks
- G06N3/08—Learning methods
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- 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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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- 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
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- 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
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
- G16B5/20—Probabilistic models
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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
- C12Q2522/00—Reaction characterised by the use of non-enzymatic proteins
- C12Q2522/10—Nucleic acid binding proteins
-
- 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
- C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
- C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
- C12Q2537/164—Methylation detection other then bisulfite or methylation sensitive restriction endonucleases
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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
- C12Q2600/154—Methylation markers
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/20—Sequence assembly
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- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Physics & Mathematics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- Immunology (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- General Engineering & Computer Science (AREA)
- Theoretical Computer Science (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Medical Informatics (AREA)
- Pathology (AREA)
- Data Mining & Analysis (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Software Systems (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Computation (AREA)
- Artificial Intelligence (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Hospice & Palliative Care (AREA)
- Oncology (AREA)
- General Physics & Mathematics (AREA)
- Bioethics (AREA)
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Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201762531527P | 2017-07-12 | 2017-07-12 | |
| US62/531,527 | 2017-07-12 | ||
| PCT/CA2018/000141 WO2019010564A1 (en) | 2017-07-12 | 2018-07-11 | DETECTION AND CLASSIFICATION OF CANCER USING METHYLOME ANALYSIS |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3069754A1 true CA3069754A1 (en) | 2019-01-17 |
Family
ID=65000926
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA3069754A Pending CA3069754A1 (en) | 2017-07-12 | 2018-07-11 | Cancer detection and classification using methylome analysis |
Country Status (8)
| Country | Link |
|---|---|
| US (2) | US12031184B2 (https=) |
| EP (1) | EP3652741A4 (https=) |
| JP (2) | JP2020537487A (https=) |
| KR (2) | KR102628878B1 (https=) |
| CN (2) | CN118600004A (https=) |
| BR (1) | BR112020000681A2 (https=) |
| CA (1) | CA3069754A1 (https=) |
| WO (1) | WO2019010564A1 (https=) |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN115376616A (zh) * | 2022-10-24 | 2022-11-22 | 臻和(北京)生物科技有限公司 | 一种基于cfDNA多组学的多分类方法及装置 |
Families Citing this family (29)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| KR102522067B1 (ko) * | 2016-05-03 | 2023-04-13 | 유니버시티 헬스 네트워크 | 무-세포 메틸화된 dna의 포획 방법 및 이의 이용 |
| MX2019007444A (es) | 2016-12-22 | 2019-08-16 | Guardant Health Inc | Metodos y sistemas para analisis de moleculas de acido nucleico. |
| US12227737B2 (en) * | 2017-07-12 | 2025-02-18 | University Health Network | Cancer detection and classification using methylome analysis |
| BR112020000681A2 (pt) | 2017-07-12 | 2020-07-14 | University Health Network | detecção e classificação de cancro utilizando análise de metilome |
| US12428684B2 (en) * | 2018-07-05 | 2025-09-30 | Active Genomes Expressed Diagnostics Corp | Methods for detecting and treating a tumorigenic phenotype of the liver |
| CN109097439A (zh) * | 2018-09-04 | 2018-12-28 | 上海交通大学 | 一种检测少量样品全基因组dna甲基化的方法 |
| US11891653B2 (en) | 2019-09-30 | 2024-02-06 | Guardant Health, Inc. | Compositions and methods for analyzing cell-free DNA in methylation partitioning assays |
| CN114868191A (zh) * | 2019-10-11 | 2022-08-05 | 格瑞尔有限责任公司 | 利用起源组织阈值的癌症分类 |
| CN115087744A (zh) * | 2019-11-06 | 2022-09-20 | 大学健康网络 | 用于无细胞MeDIP测序的合成加标对照及其使用方法 |
| EP4617375A3 (en) * | 2019-11-26 | 2025-10-29 | Guardant Health, Inc. | Methods, compositions and systems for improving the binding of methylated polynucleotides |
| WO2021119471A1 (en) * | 2019-12-13 | 2021-06-17 | Grail, Inc. | Cancer classification using patch convolutional neural networks |
| CN111154846A (zh) * | 2020-01-13 | 2020-05-15 | 四川大学华西医院 | 一种甲基化核酸的检测方法 |
| CN119193839A (zh) * | 2020-05-09 | 2024-12-27 | 广州燃石医学检验所有限公司 | 癌症预后方法 |
| US12592321B2 (en) * | 2020-06-19 | 2026-03-31 | University Health Network | Cancer detection and classification using methylome analysis |
| CA3182321A1 (en) * | 2020-06-19 | 2021-12-23 | Scott BRATMAN | Multimodal analysis of circulating tumor nucleic acid molecules |
| AU2021292311A1 (en) * | 2020-06-20 | 2023-02-16 | Grail, Llc | Detection and classification of human papillomavirus associated cancers |
| JP2023547620A (ja) | 2020-10-23 | 2023-11-13 | ガーダント ヘルス, インコーポレイテッド | 分配および塩基変換を使用してdnaを解析するための組成物および方法 |
| CN112382342A (zh) * | 2020-11-24 | 2021-02-19 | 山西三友和智慧信息技术股份有限公司 | 一种基于集成特征选择的癌症甲基化数据分类方法 |
| CN112820407B (zh) * | 2021-01-08 | 2022-06-17 | 清华大学 | 利用血浆游离核酸检测癌症的深度学习方法和系统 |
| CN116762132B (zh) * | 2021-01-14 | 2026-03-31 | 深圳华大生命科学研究院 | 基于游离dna的疾病预测模型及其构建方法和应用 |
| CN114507737A (zh) * | 2022-03-22 | 2022-05-17 | 杭州医学院 | 一种石棉相关疾病甲基化标记物的检测引物组合、试剂盒及扩增子测序文库的构建方法 |
| KR102491322B1 (ko) * | 2022-03-29 | 2023-01-27 | 주식회사 아이엠비디엑스 | 암 진단을 위한 다중 분석 예측 모델의 제조 방법 |
| CN119604623A (zh) * | 2022-05-25 | 2025-03-11 | 阿黛拉公司 | 用于无细胞核酸处理的方法和系统 |
| CN115274124B (zh) * | 2022-07-22 | 2023-11-14 | 江苏先声医学诊断有限公司 | 一种基于数据驱动的肿瘤早筛靶向Panel和分类模型的动态优化方法 |
| WO2024025831A1 (en) * | 2022-07-25 | 2024-02-01 | Grail, Llc | Sample contamination detection of contaminated fragments with cpg-snp contamination markers |
| CN115132273B (zh) * | 2022-08-01 | 2023-07-28 | 广州燃石医学检验所有限公司 | 一种肿瘤形成风险与肿瘤组织来源的评估方法及系统 |
| CN117766028B (zh) * | 2022-09-16 | 2025-03-11 | 深圳吉因加医学检验实验室 | 一种基于甲基化差异预测样本来源的方法及装置 |
| WO2024091028A1 (ko) * | 2022-10-28 | 2024-05-02 | 주식회사 클리노믹스 | Cell-free dna를 이용한 건강 및 질병관리 시스템 및 방법 |
| CN121569344A (zh) * | 2023-07-14 | 2026-02-24 | 夸登特健康公司 | 使用来自液体活检的dna甲基化对结肠直肠肿瘤进行分类 |
Family Cites Families (17)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2004524030A (ja) | 2001-02-23 | 2004-08-12 | ザ ジョンズ ホプキンス ユニバーシティー スクール オブ メディシン | 膵臓がんにおけるメチル化の異なる配列 |
| US6818762B2 (en) | 2001-05-25 | 2004-11-16 | Maine Molecular Quality Controls, Inc. | Compositions and methods relating to nucleic acid reference standards |
| CN102308212A (zh) * | 2008-12-04 | 2012-01-04 | 加利福尼亚大学董事会 | 用于确定前列腺癌诊断和预后的材料和方法 |
| EP2514836B1 (en) | 2011-04-19 | 2016-06-29 | Max-Planck-Gesellschaft zur Förderung der Wissenschaften e.V. | Prostate cancer markers |
| US9732390B2 (en) | 2012-09-20 | 2017-08-15 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
| SI4056712T1 (sl) | 2012-09-20 | 2024-10-30 | The Chinese University Of Hong Kong | Neinvazivno določanje metiloma tumorja iz plazme |
| JP6681841B2 (ja) | 2014-05-09 | 2020-04-15 | ライフコーデックス アーゲー | 特別な細胞タイプに由来するdnaの検出とそれに関連する方法 |
| TWI813141B (zh) * | 2014-07-18 | 2023-08-21 | 香港中文大學 | Dna混合物中之組織甲基化模式分析 |
| WO2016094330A2 (en) * | 2014-12-08 | 2016-06-16 | 20/20 Genesystems, Inc | Methods and machine learning systems for predicting the liklihood or risk of having cancer |
| US9984201B2 (en) | 2015-01-18 | 2018-05-29 | Youhealth Biotech, Limited | Method and system for determining cancer status |
| DE102015009187B3 (de) | 2015-07-16 | 2016-10-13 | Dimo Dietrich | Verfahren zur Bestimmung einer Mutation in genomischer DNA, Verwendung des Verfahrens und Kit zur Durchführung des Verfahrens |
| WO2017100356A1 (en) | 2015-12-07 | 2017-06-15 | Data4Cure, Inc. | A method and system for ontology-based dynamic learning and knowledge integration from measurement data and text |
| KR102522067B1 (ko) | 2016-05-03 | 2023-04-13 | 유니버시티 헬스 네트워크 | 무-세포 메틸화된 dna의 포획 방법 및 이의 이용 |
| CN110168099B (zh) | 2016-06-07 | 2024-06-07 | 加利福尼亚大学董事会 | 用于疾病和病症分析的无细胞dna甲基化模式 |
| US12227737B2 (en) | 2017-07-12 | 2025-02-18 | University Health Network | Cancer detection and classification using methylome analysis |
| BR112020000681A2 (pt) | 2017-07-12 | 2020-07-14 | University Health Network | detecção e classificação de cancro utilizando análise de metilome |
| US20210156863A1 (en) | 2017-11-03 | 2021-05-27 | University Health Network | Cancer detection, classification, prognostication, therapy prediction and therapy monitoring using methylome analysis |
-
2018
- 2018-07-11 BR BR112020000681-5A patent/BR112020000681A2/pt not_active Application Discontinuation
- 2018-07-11 CN CN202410710233.4A patent/CN118600004A/zh active Pending
- 2018-07-11 CN CN201880059089.5A patent/CN111094590A/zh active Pending
- 2018-07-11 KR KR1020207004066A patent/KR102628878B1/ko active Active
- 2018-07-11 US US16/630,299 patent/US12031184B2/en active Active
- 2018-07-11 JP JP2020501564A patent/JP2020537487A/ja active Pending
- 2018-07-11 WO PCT/CA2018/000141 patent/WO2019010564A1/en not_active Ceased
- 2018-07-11 KR KR1020247002257A patent/KR102930572B1/ko active Active
- 2018-07-11 EP EP18832886.8A patent/EP3652741A4/en active Pending
- 2018-07-11 CA CA3069754A patent/CA3069754A1/en active Pending
-
2022
- 2022-02-09 US US17/668,314 patent/US20220251665A1/en not_active Abandoned
-
2023
- 2023-07-21 JP JP2023119203A patent/JP2023139162A/ja active Pending
Cited By (2)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN115376616A (zh) * | 2022-10-24 | 2022-11-22 | 臻和(北京)生物科技有限公司 | 一种基于cfDNA多组学的多分类方法及装置 |
| CN115376616B (zh) * | 2022-10-24 | 2023-04-28 | 臻和(北京)生物科技有限公司 | 一种基于cfDNA多组学的多分类方法及装置 |
Also Published As
| Publication number | Publication date |
|---|---|
| EP3652741A1 (en) | 2020-05-20 |
| KR102628878B1 (ko) | 2024-01-23 |
| US20200308651A1 (en) | 2020-10-01 |
| US20220251665A1 (en) | 2022-08-11 |
| CN118600004A (zh) | 2024-09-06 |
| JP2020537487A (ja) | 2020-12-24 |
| EP3652741A4 (en) | 2021-04-21 |
| WO2019010564A1 (en) | 2019-01-17 |
| JP2023139162A (ja) | 2023-10-03 |
| KR102930572B1 (ko) | 2026-02-24 |
| US12031184B2 (en) | 2024-07-09 |
| BR112020000681A2 (pt) | 2020-07-14 |
| KR20240018667A (ko) | 2024-02-13 |
| KR20200032127A (ko) | 2020-03-25 |
| CN111094590A (zh) | 2020-05-01 |
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