JP2024512627A - 核酸メチル化分析を介して癌を検出するための方法およびシステム - Google Patents

核酸メチル化分析を介して癌を検出するための方法およびシステム Download PDF

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JP2024512627A
JP2024512627A JP2023559736A JP2023559736A JP2024512627A JP 2024512627 A JP2024512627 A JP 2024512627A JP 2023559736 A JP2023559736 A JP 2023559736A JP 2023559736 A JP2023559736 A JP 2023559736A JP 2024512627 A JP2024512627 A JP 2024512627A
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cancer
genomic regions
methylation
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panel
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マハジャン，シヴァニ
グールド，ビリー
ウルズ，ピーター
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フリーノム ホールディングス，インク．
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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
    • 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
    • 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
    • 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
    • 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
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • 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

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  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
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  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
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  • Data Mining & Analysis (AREA)
  • Analytical Chemistry (AREA)
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  • Genetics & Genomics (AREA)
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  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
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  • Wood Science & Technology (AREA)
  • Biomedical Technology (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Software Systems (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Evolutionary Computation (AREA)
  • Oncology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Hospice & Palliative Care (AREA)
  • Primary Health Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2023559736A 2021-03-26 2022-03-24 核酸メチル化分析を介して癌を検出するための方法およびシステム Pending JP2024512627A (ja)

Applications Claiming Priority (3)

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US202163166641P 2021-03-26 2021-03-26
US63/166,641 2021-03-26
PCT/US2022/021662 WO2022204358A1 (en) 2021-03-26 2022-03-24 Methods and systems for detecting cancer via nucleic acid methylation analysis

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JP2024512627A true JP2024512627A (ja) 2024-03-19
JP2024512627A5 JP2024512627A5 (https=) 2025-03-17
JPWO2022204358A5 JPWO2022204358A5 (https=) 2025-03-17

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US (2) US20230178181A1 (https=)
EP (1) EP4314322A4 (https=)
JP (1) JP2024512627A (https=)
KR (1) KR20230162662A (https=)
CN (1) CN117413072A (https=)
AU (1) AU2022245306A1 (https=)
CA (1) CA3213101A1 (https=)
WO (1) WO2022204358A1 (https=)

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WO2019060716A1 (en) 2017-09-25 2019-03-28 Freenome Holdings, Inc. SAMPLE EXTRACTION METHODS AND SYSTEMS
AU2020283042B2 (en) 2019-05-31 2026-02-19 Freenome Holdings, Inc. Methods and systems for high-depth sequencing of methylated nucleic acid
CA3178302A1 (en) 2020-03-31 2021-10-07 Freenome Holdings, Inc. Methods and systems for detecting colorectal cancer via nucleic acid methylation analysis
WO2021228418A1 (en) 2020-05-15 2021-11-18 Universal Diagnostics, S.L. Methods and systems for identifying methylation biomarkers
WO2022076237A1 (en) 2020-10-05 2022-04-14 Freenome Holdings, Inc. Markers for the early detection of colon cell proliferative disorders
AU2021409465A1 (en) 2020-12-21 2023-08-03 Freenome Holdings, Inc. Markers for the early detection of colon cell proliferative disorders
WO2024096536A1 (ko) * 2022-10-31 2024-05-10 주식회사 지씨지놈 폐암 진단용 dna 메틸화 마커 및 이의 용도
JP2025539719A (ja) * 2022-10-31 2025-12-09 ジーシー ゲノム コーポレーション 肝癌診断用ｄｎａメチル化マーカー及びその用途
JP2025539741A (ja) * 2022-11-16 2025-12-09 グレイル インコーポレイテッド モデルベースの特徴化及び分類の最適化
US12606872B2 (en) 2022-11-16 2026-04-21 Universal Diagnostics, S.A. Methods for stratification and early detection of advanced adenoma and/or colorectal cancer using DNA methylation markers
WO2025128926A1 (en) * 2023-12-13 2025-06-19 Amazon Technologies, Inc. Methods of identifying and treating individuals with elevated cancer risk
US20250223652A1 (en) * 2024-01-05 2025-07-10 Harbinger Health, Inc. Tiered testing for high risk populations
CN117904313B (zh) * 2024-01-18 2024-12-24 四川大学 一种基于酶转化法从精液或精斑中推断年龄的方法及复合体系和引物组合
CN117935909B (zh) * 2024-01-26 2024-10-01 哈尔滨工业大学 基于电信号与序列融合的第三代测序dna甲基化检测方法
WO2025207830A1 (en) * 2024-03-27 2025-10-02 Freenome Holdings, Inc. Methods and systems for inferring gene expression using cell-free dna fragments
US20250372202A1 (en) * 2024-05-28 2025-12-04 Nec Laboratories America, Inc. Learning interdependent biomarkers of disease progression for medical decision making
WO2025251032A1 (en) * 2024-05-31 2025-12-04 Helio Health Inc. Liver cancer methylation markers and machine models
CN118588172B (zh) * 2024-06-07 2025-01-17 首都医科大学附属北京积水潭医院 用于监测多发性骨髓瘤微小残留病的计算机装置
CN118888009B (zh) * 2024-09-27 2024-12-20 安徽安龙基因科技有限公司 一种肝癌检测系统、试剂盒及其应用
CN120148626A (zh) * 2025-02-21 2025-06-13 上海小荷医学检验实验室有限公司 用于肿瘤检测的方法、装置、设备和程序产品

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US20200005899A1 (en) * 2018-06-01 2020-01-02 Grail, Inc. Convolutional neural network systems and methods for data classification

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WO2018057888A1 (en) * 2016-09-23 2018-03-29 Driver, Inc. Integrated systems and methods for automated processing and analysis of biological samples, clinical information processing and clinical trial matching

Patent Citations (2)

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WO2019195268A2 (en) * 2018-04-02 2019-10-10 Grail, Inc. Methylation markers and targeted methylation probe panels
US20200005899A1 (en) * 2018-06-01 2020-01-02 Grail, Inc. Convolutional neural network systems and methods for data classification

Non-Patent Citations (3)

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L LIU, ET AL.: "Targeted methylation sequencing of plasma cell-free DNA for cancer detection and classification", ANNALS OF ONCOLOGY [ONLINE], vol. 29, no. 6, JPN6026000606, 9 April 2018 (2018-04-09), pages 1445 - 1453, ISSN: 0005770587 *
WARWICK J LOCKE, ET AL.: "DNA Methylation Cancer Biomarkers: Translation to the Clinic", FRONTIERS IN GENETICS [ONLINE], vol. Vol. 10, Article 1150, JPN6026000605, 14 November 2019 (2019-11-14), pages 1 - 22, ISSN: 0005770588 *

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EP4314322A1 (en) 2024-02-07
CN117413072A (zh) 2024-01-16
US20230178181A1 (en) 2023-06-08
US20240084397A1 (en) 2024-03-14
AU2022245306A1 (en) 2023-10-12
WO2022204358A1 (en) 2022-09-29
KR20230162662A (ko) 2023-11-28
EP4314322A4 (en) 2025-05-21
CA3213101A1 (en) 2022-09-29

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