JP7466519B2 - 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム - Google Patents

腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム Download PDF

Info

Publication number
JP7466519B2
JP7466519B2 JP2021503558A JP2021503558A JP7466519B2 JP 7466519 B2 JP7466519 B2 JP 7466519B2 JP 2021503558 A JP2021503558 A JP 2021503558A JP 2021503558 A JP2021503558 A JP 2021503558A JP 7466519 B2 JP7466519 B2 JP 7466519B2
Authority
JP
Japan
Prior art keywords
nucleic acid
mutation
sample
sequencing
tmb
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Active
Application number
JP2021503558A
Other languages
English (en)
Japanese (ja)
Other versions
JP2021531775A (ja
JP2021531775A5 (enExample
Inventor
ケイティ ジュリア クイン,
エレナ ヘルマン,
ダーリヤ チュドヴァ,
ヘルミー エルトーキー,
ジャスティン アイ. オーデガード,
スティーブン フェアクロー,
エリーン シャム,
アリエル ジャイモビッチ,
Original Assignee
ガーダント ヘルス, インコーポレイテッド
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by ガーダント ヘルス, インコーポレイテッド filed Critical ガーダント ヘルス, インコーポレイテッド
Publication of JP2021531775A publication Critical patent/JP2021531775A/ja
Publication of JP2021531775A5 publication Critical patent/JP2021531775A5/ja
Priority to JP2024009403A priority Critical patent/JP2024032860A/ja
Application granted granted Critical
Publication of JP7466519B2 publication Critical patent/JP7466519B2/ja
Priority to JP2026052372A priority patent/JP2026108784A/ja
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • 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
    • G16B20/50—Mutagenesis
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K45/00—Medicinal preparations containing active ingredients not provided for in groups A61K31/00 - A61K41/00
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P35/00—Antineoplastic agents
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • G16B20/10—Ploidy or copy number detection
    • 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
    • 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
    • G16B20/40—Population genetics; Linkage disequilibrium
    • 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
    • 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
    • C12Q2537/165—Mathematical modelling, e.g. logarithm, ratio
    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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
    • C12Q2600/112—Disease subtyping, staging or classification
    • 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
    • C12Q2600/118—Prognosis of disease development
    • 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
    • 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
    • C12Q2600/158—Expression markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Ecology (AREA)
  • Physiology (AREA)
  • Epidemiology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2021503558A 2018-07-23 2019-07-22 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム Active JP7466519B2 (ja)

Priority Applications (2)

Application Number Priority Date Filing Date Title
JP2024009403A JP2024032860A (ja) 2018-07-23 2024-01-25 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム
JP2026052372A JP2026108784A (ja) 2018-07-23 2026-03-26 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム

Applications Claiming Priority (9)

Application Number Priority Date Filing Date Title
US201862702280P 2018-07-23 2018-07-23
US62/702,280 2018-07-23
US201862741770P 2018-10-05 2018-10-05
US62/741,770 2018-10-05
US201862782894P 2018-12-20 2018-12-20
US62/782,894 2018-12-20
US201962824246P 2019-03-26 2019-03-26
US62/824,246 2019-03-26
PCT/US2019/042882 WO2020023420A2 (en) 2018-07-23 2019-07-22 Methods and systems for adjusting tumor mutational burden by tumor fraction and coverage

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2024009403A Division JP2024032860A (ja) 2018-07-23 2024-01-25 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム

Publications (3)

Publication Number Publication Date
JP2021531775A JP2021531775A (ja) 2021-11-25
JP2021531775A5 JP2021531775A5 (enExample) 2022-08-01
JP7466519B2 true JP7466519B2 (ja) 2024-04-12

Family

ID=67659956

Family Applications (3)

Application Number Title Priority Date Filing Date
JP2021503558A Active JP7466519B2 (ja) 2018-07-23 2019-07-22 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム
JP2024009403A Withdrawn JP2024032860A (ja) 2018-07-23 2024-01-25 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム
JP2026052372A Pending JP2026108784A (ja) 2018-07-23 2026-03-26 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム

Family Applications After (2)

Application Number Title Priority Date Filing Date
JP2024009403A Withdrawn JP2024032860A (ja) 2018-07-23 2024-01-25 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム
JP2026052372A Pending JP2026108784A (ja) 2018-07-23 2026-03-26 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム

Country Status (9)

Country Link
US (4) US11118234B2 (enExample)
EP (1) EP3827100B1 (enExample)
JP (3) JP7466519B2 (enExample)
KR (1) KR20210038577A (enExample)
CN (2) CN120193081A (enExample)
AU (1) AU2019310041B2 (enExample)
CA (1) CA3107983A1 (enExample)
SG (1) SG11202100344WA (enExample)
WO (1) WO2020023420A2 (enExample)

Families Citing this family (66)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US12655483B2 (en) 2010-05-18 2026-06-16 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
JP6153874B2 (ja) 2011-02-09 2017-06-28 ナテラ, インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
EP4428863A3 (en) 2015-05-11 2024-12-11 Natera, Inc. Methods and compositions for determining ploidy
JP7280044B2 (ja) 2016-04-15 2023-05-23 ナテラ, インコーポレイテッド 肺癌の検出方法
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
KR20250047324A (ko) 2017-08-07 2025-04-03 더 존스 홉킨스 유니버시티 암을 평가하고 치료하기 위한 방법 및 재료
WO2019118926A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
EP3737773B1 (en) 2018-01-12 2023-04-12 Natera, Inc. Novel primers and uses thereof
DK3781714T3 (da) 2018-04-14 2026-03-30 Natera Inc Fremgangsmåder til cancerpåvisning og -overvågning ved personlig påvisning af cirkulerende tumor-dna
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN120193081A (zh) 2018-07-23 2025-06-24 夸登特健康公司 用于通过肿瘤分数和覆盖率调整肿瘤突变负荷的方法和系统
US20200258601A1 (en) * 2018-10-17 2020-08-13 Tempus Labs Targeted-panel tumor mutational burden calculation systems and methods
ES3069978T3 (en) 2018-10-17 2026-06-11 Tempus Ai Inc Data based cancer research and treatment systems and methods
US10395772B1 (en) 2018-10-17 2019-08-27 Tempus Labs Mobile supplementation, extraction, and analysis of health records
US10957433B2 (en) 2018-12-03 2021-03-23 Tempus Labs, Inc. Clinical concept identification, extraction, and prediction system and related methods
EP4567131A3 (en) * 2019-01-31 2025-09-03 Guardant Health, Inc. Compositions and methods for isolating cell-free dna
US11705226B2 (en) 2019-09-19 2023-07-18 Tempus Labs, Inc. Data based cancer research and treatment systems and methods
JP7638963B2 (ja) 2019-08-22 2025-03-04 テンパス・エーアイ・インコーポレイテッド 高次元時系列薬剤データからの教師なし学習および治療ラインの予測
US20230223105A1 (en) * 2020-02-27 2023-07-13 Foundation Medicine, Inc. Mitigation of statistical bias in genetic sampling
GB202003669D0 (en) * 2020-03-13 2020-04-29 Univ Oxford Innovation Ltd Method for identifying neo-antigens
WO2021194837A1 (en) * 2020-03-26 2021-09-30 Memorial Sloan Kettering Cancer Center Systems and methods for distinguishing pathological mutations from clonal hematopoietic mutations in plasma cell-free dna by fragment size analysis
CN111402952A (zh) * 2020-03-27 2020-07-10 深圳裕策生物科技有限公司 一种检测肿瘤异质性程度的方法及系统
WO2021202752A1 (en) * 2020-03-31 2021-10-07 Guardant Health, Inc. Determining tumor fraction for a sample based on methyl binding domain calibration data
CN112116956B (zh) * 2020-09-29 2024-04-19 深圳裕策生物科技有限公司 一种基于二代测序的肿瘤单样本tmb检测方法及装置
KR20230156364A (ko) * 2021-03-05 2023-11-14 가던트 헬쓰, 인크. 분자 반응을 분석하기 위한 방법 및 관련 측면
WO2022262569A1 (zh) * 2021-06-18 2022-12-22 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
WO2022271730A1 (en) * 2021-06-21 2022-12-29 Guardant Health, Inc. Methods and compositions for copy-number informed tissue-of-origin analysis
EP4359569A4 (en) * 2021-06-22 2025-02-26 Foundation Medicine, Inc. Systems and methods for evaluating tumor fraction
WO2023023402A2 (en) * 2021-08-20 2023-02-23 Guardant Health, Inc. Methods for simultaneous molecular and sample barcoding
US20250003008A1 (en) * 2021-11-05 2025-01-02 The Johns Hopkins University Methods for treatment of cancer
EP4430614A4 (en) * 2021-11-12 2025-12-17 Found Medicine Inc Circulating tumor DNA fraction and uses thereof
CN114155911A (zh) * 2021-12-08 2022-03-08 深圳基因家科技有限公司 一种矫正肿瘤突变负荷的方法及系统
JP2025502843A (ja) * 2022-01-04 2025-01-28 ナテラ, インコーポレイテッド がん検出及びモニタリングのための方法
US20250095771A1 (en) * 2022-01-18 2025-03-20 NEC Laboratories Europe GmbH Methods of vaccine design
EP4567129A3 (en) 2022-02-02 2025-08-13 Guardant Health, Inc. Multifunctional primers for paired sequencing reads
CN114596918B (zh) * 2022-03-11 2023-03-24 苏州吉因加生物医学工程有限公司 一种检测突变的方法及装置
CN116200490B (zh) * 2022-07-25 2025-05-16 慧算基因科技(上海)有限公司 一种实体瘤微小病灶残留检测panel的筛选方法
CN115404275B (zh) * 2022-08-17 2023-07-11 中山大学·深圳 一种基于纳米孔测序技术评估肿瘤纯度的方法
WO2024112643A1 (en) * 2022-11-21 2024-05-30 Foundation Medicine, Inc. Fragmentomics based identification of tumor-specific copy number alteration states in liquid biopsy
KR20250154498A (ko) * 2023-03-13 2025-10-28 그레일, 인코포레이티드 백혈구 오염 검출
WO2024215498A1 (en) * 2023-04-12 2024-10-17 Foundation Medicine, Inc. Method for detecting patients with systematically under-estimated tumor mutational burden who may benefit from immunotherapy
WO2024238750A2 (en) * 2023-05-17 2024-11-21 Foundation Medicine, Inc. Clonal hematopoiesis burden as a biomarker for immune checkpoint inhibitor response
KR20260059609A (ko) * 2023-08-30 2026-04-30 그레일, 인코포레이티드 종양 분율 추정에서 이상치 대립유전자 분율을 갖는 변이의 식별 및 배제
US20250084469A1 (en) 2023-09-12 2025-03-13 Guardant Health, Inc. Methods for analyzing nucleic acids using sequence read family size distribution
EP4781415A1 (en) 2023-09-19 2026-07-29 Guardant Health, Inc. Detecting the presence of a tumor based on methylation status of cell-free nucleic acid molecules
WO2025076452A1 (en) 2023-10-06 2025-04-10 Guardant Health, Inc. Detecting tumor-related information based on methylation status of cell-free nucleic acid molecules
WO2025096757A1 (en) 2023-11-01 2025-05-08 Sana Biotechnology, Inc. Hypoimmunogenic cd22-targeted car t cells for the treatment of relapsed and/or refractory b cell lymphomas
AU2024375196A1 (en) * 2023-11-10 2026-05-28 Caris Mpi, Inc. Accurate detection of origin of cell-free nucleic acids
WO2025122662A1 (en) * 2023-12-04 2025-06-12 Tempus Ai, Inc. Systems and methods for detecting somatic variants derived from circulating tumor nucleic acids
WO2025208044A1 (en) 2024-03-28 2025-10-02 Guardant Health, Inc. Methods for cancer detection using molecular patterns
US12467087B1 (en) 2024-06-25 2025-11-11 Guardant Health, Inc. Sequencing methods with partitioning
WO2026087504A1 (en) * 2024-10-22 2026-04-30 Fundación Pública Galega De Investigación Biomédica Galicia Sur (Fpgibgs) Method for predicting the response of patients suffering from lung cancer to a treatment with anti-pd1 or anti-pdl1 immunotherapy
WO2026090570A1 (en) 2024-10-24 2026-04-30 Guardant Health, Inc. Detecting the presence of a biological condition based on a nucleic acid sample data analysis
WO2026096358A1 (en) 2024-10-28 2026-05-07 Guardant Health, Inc. Screening approaches for high cancer risk individuals
WO2026136560A1 (en) 2024-12-17 2026-06-25 Guardant Health, Inc. Methods for cfdna methylation data modeling using transformer neural network architecture

Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030219765A1 (en) 2000-03-23 2003-11-27 Jose Costa Methods for evaluating cancer risk
US20050282196A1 (en) 2004-04-30 2005-12-22 Jose Costa Methods and compositions for cancer diagnosis
US20140296081A1 (en) 2013-03-15 2014-10-02 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating tumor markers
WO2017151524A1 (en) 2016-02-29 2017-09-08 Foundation Medicine, Inc. Methods and systems for evaluating tumor mutational burden
JP2018507682A (ja) 2014-12-31 2018-03-22 ガーダント ヘルス, インコーポレイテッド 疾患細胞不均一性を示す疾患の検出および処置、ならびに通信試験結果のためのシステムおよび方法
JP2018512048A (ja) 2015-02-10 2018-05-10 ザ チャイニーズ ユニバーシティ オブ ホンコン 癌スクリーニング及び胎児分析のための変異検出

Family Cites Families (52)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
ATE226983T1 (de) 1994-08-19 2002-11-15 Pe Corp Ny Gekoppeltes ampflikation- und ligationverfahren
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
GB9626815D0 (en) 1996-12-23 1997-02-12 Cemu Bioteknik Ab Method of sequencing DNA
US6969488B2 (en) 1998-05-22 2005-11-29 Solexa, Inc. System and apparatus for sequential processing of analytes
AR021833A1 (es) 1998-09-30 2002-08-07 Applied Research Systems Metodos de amplificacion y secuenciacion de acido nucleico
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
US7501245B2 (en) 1999-06-28 2009-03-10 Helicos Biosciences Corp. Methods and apparatuses for analyzing polynucleotide sequences
WO2001023610A2 (en) 1999-09-29 2001-04-05 Solexa Ltd. Polynucleotide sequencing
US20020110538A1 (en) 1999-12-28 2002-08-15 Health Research, Inc. Methods and products for tumor immunotherapy using cytokines
EP2100971A3 (en) 2000-07-07 2009-11-25 Visigen Biotechnologies, Inc. Real-time sequence determination
ATE449186T1 (de) 2001-11-28 2009-12-15 Applied Biosystems Llc Zusammensetzungen und verfahren zur selektiven nukleinsäureisolierung
US7169560B2 (en) 2003-11-12 2007-01-30 Helicos Biosciences Corporation Short cycle methods for sequencing polynucleotides
US7170050B2 (en) 2004-09-17 2007-01-30 Pacific Biosciences Of California, Inc. Apparatus and methods for optical analysis of molecules
US7315019B2 (en) 2004-09-17 2008-01-01 Pacific Biosciences Of California, Inc. Arrays of optical confinements and uses thereof
US7482120B2 (en) 2005-01-28 2009-01-27 Helicos Biosciences Corporation Methods and compositions for improving fidelity in a nucleic acid synthesis reaction
US7282337B1 (en) 2006-04-14 2007-10-16 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
EP3225697A3 (en) 2010-12-30 2017-11-22 Foundation Medicine, Inc. Optimization of multigene analysis of tumor samples
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
PL2893040T3 (pl) 2012-09-04 2019-05-31 Guardant Health Inc Sposoby wykrywania rzadkich mutacji i wariantu liczby kopii
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US9805407B2 (en) 2013-01-25 2017-10-31 Illumina, Inc. Methods and systems for using a cloud computing environment to configure and sell a biological sample preparation cartridge and share related data
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2014262481A1 (en) 2013-05-10 2015-11-26 Foundation Medicine, Inc. Analysis of genetic variants
ES2873850T3 (es) 2013-08-19 2021-11-04 Abbott Molecular Inc Bibliotecas de secuenciación de próxima generación
SG11201605432RA (en) 2014-01-02 2016-07-28 Sloan Kettering Inst Cancer Determinants of cancer response to immunotherapy
US20150292033A1 (en) 2014-04-10 2015-10-15 Dana-Farber Cancer Institute, Inc. Method of determining cancer prognosis
WO2016040901A1 (en) * 2014-09-12 2016-03-17 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acids
KR20170080697A (ko) 2014-11-13 2017-07-10 더 존스 홉킨스 유니버시티 관문 차단 및 미소부수체 불안정성
MA40737A (fr) 2014-11-21 2017-07-04 Memorial Sloan Kettering Cancer Center Déterminants de la réponse d'un cancer à une immunothérapie par blocage de pd-1
WO2016145578A1 (en) 2015-03-13 2016-09-22 Syz Cell Therapy Co. Methods of cancer treatment using activated t cells
CN108352463A (zh) * 2015-10-28 2018-07-31 大日本印刷株式会社 电池用包装材料、电池、电池用包装材料的制造方法和铝合金箔
US10364468B2 (en) 2016-01-13 2019-07-30 Seven Bridges Genomics Inc. Systems and methods for analyzing circulating tumor DNA
US11725247B2 (en) 2016-02-29 2023-08-15 Foundation Medicine, Inc. Methods of treating cancer
WO2017151502A1 (en) 2016-02-29 2017-09-08 Genentech, Inc. Therapeutic and diagnostic methods for cancer
TWI822521B (zh) 2016-05-13 2023-11-11 美商再生元醫藥公司 藉由投予pd-1抑制劑治療皮膚癌之方法
US10711312B2 (en) * 2016-07-12 2020-07-14 The Regents Of The University Of California Methods for immunotherapy-based treatment and assessment of cancer
US10294518B2 (en) 2016-09-16 2019-05-21 Fluxion Biosciences, Inc. Methods and systems for ultra-sensitive detection of genomic alterations
KR102804118B1 (ko) 2016-10-06 2025-05-09 제넨테크, 인크. 암에 대한 치료 및 진단 방법
IL302912A (en) 2016-12-22 2023-07-01 Guardant Health Inc Methods and systems for analyzing nucleic acid molecules
WO2018183817A2 (en) 2017-03-31 2018-10-04 Medimmune, Llc Tumor burden as measured by cell free dna
AU2018304458B2 (en) 2017-07-21 2021-12-09 Foundation Medicine, Inc. Therapeutic and diagnostic methods for cancer
KR20240157126A (ko) 2017-09-20 2024-10-31 가던트 헬쓰, 인크. 체세포 및 생식세포계열 변이체를 구별하기 위한 방법 및 시스템
EP3704268B1 (en) 2017-11-03 2025-01-22 Guardant Health, Inc. Normalizing tumor mutation burden
EP4589059A3 (en) 2017-12-01 2025-12-10 Personal Genome Diagnostics, Inc. Process for microsatellite instability detection
EP3788173B1 (en) 2018-05-03 2023-11-29 F. Hoffmann-La Roche AG Surrogate marker and method for tumor mutation burden measurement
US20190385700A1 (en) 2018-06-04 2019-12-19 Guardant Health, Inc. METHODS AND SYSTEMS FOR DETERMINING The CELLULAR ORIGIN OF CELL-FREE NUCLEIC ACIDS
CN120193081A (zh) 2018-07-23 2025-06-24 夸登特健康公司 用于通过肿瘤分数和覆盖率调整肿瘤突变负荷的方法和系统
US20200258601A1 (en) 2018-10-17 2020-08-13 Tempus Labs Targeted-panel tumor mutational burden calculation systems and methods

Patent Citations (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20030219765A1 (en) 2000-03-23 2003-11-27 Jose Costa Methods for evaluating cancer risk
US20050282196A1 (en) 2004-04-30 2005-12-22 Jose Costa Methods and compositions for cancer diagnosis
US20140296081A1 (en) 2013-03-15 2014-10-02 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating tumor markers
JP2018507682A (ja) 2014-12-31 2018-03-22 ガーダント ヘルス, インコーポレイテッド 疾患細胞不均一性を示す疾患の検出および処置、ならびに通信試験結果のためのシステムおよび方法
JP2018512048A (ja) 2015-02-10 2018-05-10 ザ チャイニーズ ユニバーシティ オブ ホンコン 癌スクリーニング及び胎児分析のための変異検出
WO2017151524A1 (en) 2016-02-29 2017-09-08 Foundation Medicine, Inc. Methods and systems for evaluating tumor mutational burden

Also Published As

Publication number Publication date
EP3827100B1 (en) 2026-07-01
US20260125769A1 (en) 2026-05-07
CA3107983A1 (en) 2020-01-30
US20250250644A1 (en) 2025-08-07
WO2020023420A2 (en) 2020-01-30
US11118234B2 (en) 2021-09-14
JP2024032860A (ja) 2024-03-12
JP2021531775A (ja) 2021-11-25
KR20210038577A (ko) 2021-04-07
WO2020023420A3 (en) 2020-02-27
AU2019310041B2 (en) 2025-11-20
JP2026108784A (ja) 2026-06-30
US20200370129A1 (en) 2020-11-26
SG11202100344WA (en) 2021-02-25
US20220098671A1 (en) 2022-03-31
CN112752854A (zh) 2021-05-04
EP3827100A2 (en) 2021-06-02
CN120193081A (zh) 2025-06-24
US12291751B2 (en) 2025-05-06
AU2019310041A1 (en) 2021-02-04
CN112752854B (zh) 2025-03-18

Similar Documents

Publication Publication Date Title
JP2024032860A (ja) 腫瘍遺伝子変異量を腫瘍割合およびカバレッジによって調整するための方法およびシステム
JP7699261B2 (ja) 無細胞dnaにおけるマイクロサテライト不安定性の検出
JP2026012397A (ja) セルフリー核酸の細胞起源を決定するための方法およびシステム
US20220411876A1 (en) Methods and related aspects for analyzing molecular response
CN117063239A (zh) 用于分析分子响应的方法和相关方面

Legal Events

Date Code Title Description
A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20220722

A621 Written request for application examination

Free format text: JAPANESE INTERMEDIATE CODE: A621

Effective date: 20220722

A977 Report on retrieval

Free format text: JAPANESE INTERMEDIATE CODE: A971007

Effective date: 20230628

A131 Notification of reasons for refusal

Free format text: JAPANESE INTERMEDIATE CODE: A131

Effective date: 20230725

A601 Written request for extension of time

Free format text: JAPANESE INTERMEDIATE CODE: A601

Effective date: 20231023

A521 Request for written amendment filed

Free format text: JAPANESE INTERMEDIATE CODE: A523

Effective date: 20240125

TRDD Decision of grant or rejection written
A01 Written decision to grant a patent or to grant a registration (utility model)

Free format text: JAPANESE INTERMEDIATE CODE: A01

Effective date: 20240329

A61 First payment of annual fees (during grant procedure)

Free format text: JAPANESE INTERMEDIATE CODE: A61

Effective date: 20240402

R150 Certificate of patent or registration of utility model

Ref document number: 7466519

Country of ref document: JP

Free format text: JAPANESE INTERMEDIATE CODE: R150