CA3008651A1 - Methods to determine tumor gene copy number by analysis of cell-free dna - Google Patents
Methods to determine tumor gene copy number by analysis of cell-free dna Download PDFInfo
- Publication number
- CA3008651A1 CA3008651A1 CA3008651A CA3008651A CA3008651A1 CA 3008651 A1 CA3008651 A1 CA 3008651A1 CA 3008651 A CA3008651 A CA 3008651A CA 3008651 A CA3008651 A CA 3008651A CA 3008651 A1 CA3008651 A1 CA 3008651A1
- Authority
- CA
- Canada
- Prior art keywords
- genetic loci
- data set
- genetic
- sequencing
- baselining
- 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.)
- Pending
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Classifications
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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
-
- 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
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- 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
- C12Q1/6869—Methods for sequencing
- C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
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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
- G16B20/10—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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- 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
- G16B30/10—Sequence alignment; Homology search
-
- 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
- G16B99/00—Subject matter not provided for in other groups of this subclass
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Organic Chemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Evolutionary Biology (AREA)
- Immunology (AREA)
- Molecular Biology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Pathology (AREA)
- Hospice & Palliative Care (AREA)
- Oncology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Algebra (AREA)
- General Physics & Mathematics (AREA)
- Mathematical Analysis (AREA)
- Mathematical Optimization (AREA)
- Mathematical Physics (AREA)
- Pure & Applied Mathematics (AREA)
- Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201562269051P | 2015-12-17 | 2015-12-17 | |
| US62/269,051 | 2015-12-17 | ||
| PCT/US2016/067356 WO2017106768A1 (en) | 2015-12-17 | 2016-12-16 | Methods to determine tumor gene copy number by analysis of cell-free dna |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| CA3008651A1 true CA3008651A1 (en) | 2017-06-22 |
Family
ID=59057742
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA3008651A Pending CA3008651A1 (en) | 2015-12-17 | 2016-12-16 | Methods to determine tumor gene copy number by analysis of cell-free dna |
Country Status (7)
| Country | Link |
|---|---|
| US (3) | US20170240973A1 (enExample) |
| EP (1) | EP3390668A4 (enExample) |
| JP (3) | JP2019507585A (enExample) |
| CN (2) | CN108603228B (enExample) |
| CA (1) | CA3008651A1 (enExample) |
| SG (1) | SG11201805119QA (enExample) |
| WO (1) | WO2017106768A1 (enExample) |
Families Citing this family (38)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| ES2986436T3 (es) | 2011-04-15 | 2024-11-11 | Univ Johns Hopkins | Sistema de secuenciación segura |
| US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
| ES2886507T5 (es) | 2012-10-29 | 2024-11-15 | Univ Johns Hopkins | Prueba de Papanicolaou para cánceres de ovario y de endometrio |
| EP3766986B1 (en) | 2014-12-31 | 2022-06-01 | Guardant Health, Inc. | Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results |
| US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| US11286531B2 (en) | 2015-08-11 | 2022-03-29 | The Johns Hopkins University | Assaying ovarian cyst fluid |
| US20190287645A1 (en) * | 2016-07-06 | 2019-09-19 | Guardant Health, Inc. | Methods for fragmentome profiling of cell-free nucleic acids |
| EP3461274B1 (en) | 2016-09-30 | 2020-11-04 | Guardant Health, Inc. | Methods for multi-resolution analysis of cell-free nucleic acids |
| US9850523B1 (en) | 2016-09-30 | 2017-12-26 | Guardant Health, Inc. | Methods for multi-resolution analysis of cell-free nucleic acids |
| US12100483B2 (en) | 2016-12-22 | 2024-09-24 | Grail, Llc | Base coverage normalization and use thereof in detecting copy number variation |
| CN111868260B (zh) | 2017-08-07 | 2025-02-21 | 约翰斯霍普金斯大学 | 用于评估和治疗癌症的方法和材料 |
| 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 |
| DE202019005627U1 (de) | 2018-04-02 | 2021-05-31 | Grail, Inc. | Methylierungsmarker und gezielte Methylierungssondenpanels |
| AU2019277698A1 (en) | 2018-06-01 | 2020-11-19 | Grail, Llc | Convolutional neural network systems and methods for data classification |
| WO2020069350A1 (en) | 2018-09-27 | 2020-04-02 | Grail, Inc. | Methylation markers and targeted methylation probe panel |
| WO2020092807A1 (en) * | 2018-10-31 | 2020-05-07 | Guardant Health, Inc. | Methods, compositions and systems for calibrating epigenetic partitioning assays |
| CN110232951B (zh) * | 2018-12-06 | 2023-08-01 | 苏州金唯智生物科技有限公司 | 判断测序数据饱和的方法、计算机可读介质和应用 |
| US11581062B2 (en) | 2018-12-10 | 2023-02-14 | Grail, Llc | Systems and methods for classifying patients with respect to multiple cancer classes |
| WO2020160414A1 (en) | 2019-01-31 | 2020-08-06 | Guardant Health, Inc. | Compositions and methods for isolating cell-free dna |
| WO2020186024A1 (en) * | 2019-03-13 | 2020-09-17 | Grail, Inc. | Systems and methods for enriching for cancer-derived fragments using fragment size |
| US12497662B2 (en) | 2019-04-16 | 2025-12-16 | Grail, Inc. | Systems and methods for tumor fraction estimation from small variants |
| EP4041888A4 (en) | 2019-10-11 | 2023-11-01 | Guardant Health, Inc. | USE OF CELLULAR BACTERIAL NUCLEIC ACIDS FOR CANCER DETECTION |
| EP4103748A4 (en) | 2020-02-14 | 2024-03-13 | The Johns Hopkins University | METHOD AND MATERIALS FOR ASSESSING NUCLEIC ACIDS |
| US11211147B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing |
| US11475981B2 (en) | 2020-02-18 | 2022-10-18 | Tempus Labs, Inc. | Methods and systems for dynamic variant thresholding in a liquid biopsy assay |
| US11211144B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Methods and systems for refining copy number variation in a liquid biopsy assay |
| EP4111455A1 (en) * | 2020-02-28 | 2023-01-04 | Grail, LLC | Systems and methods for calling variants using methylation sequencing data |
| WO2023282916A1 (en) | 2021-07-09 | 2023-01-12 | Guardant Health, Inc. | Methods of detecting genomic rearrangements using cell free nucleic acids |
| EP4179111B1 (en) | 2020-07-10 | 2024-04-03 | Guardant Health, Inc. | Methods of detecting genomic rearrangements using cell free nucleic acids |
| EP4205126A1 (en) | 2020-08-25 | 2023-07-05 | Guardant Health, Inc. | Methods and systems for predicting an origin of a variant |
| EP4305200A1 (en) | 2021-03-09 | 2024-01-17 | Guardant Health, Inc. | Detecting the presence of a tumor based on off-target polynucleotide sequencing data |
| EP4388091A2 (en) | 2021-08-20 | 2024-06-26 | Guardant Health, Inc. | Methods for simultaneous molecular and sample barcoding |
| EP4567129A3 (en) | 2022-02-02 | 2025-08-13 | Guardant Health, Inc. | Multifunctional primers for paired sequencing reads |
| US20240052419A1 (en) * | 2022-08-10 | 2024-02-15 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
| WO2024233502A1 (en) | 2023-05-05 | 2024-11-14 | Guardant Health, Inc. | Cell-free dna blood-based test for cancer screening |
| WO2025207817A1 (en) | 2024-03-26 | 2025-10-02 | Guardant Health, Inc. | Method of determining the likelihood of a disease by combining biomarkers and imaging |
| US12467087B1 (en) | 2024-06-25 | 2025-11-11 | Guardant Health, Inc. | Sequencing methods with partitioning |
| WO2026006432A2 (en) | 2024-06-25 | 2026-01-02 | Guardant Health, Inc. | Sequencing methods with partitioning |
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| US20170240973A1 (en) | 2017-08-24 |
| CN117174167A (zh) | 2023-12-05 |
| CN108603228B (zh) | 2023-09-01 |
| JP2023126874A (ja) | 2023-09-12 |
| EP3390668A1 (en) | 2018-10-24 |
| US20200140960A1 (en) | 2020-05-07 |
| WO2017106768A1 (en) | 2017-06-22 |
| EP3390668A4 (en) | 2020-04-01 |
| US20220356527A1 (en) | 2022-11-10 |
| US11242569B2 (en) | 2022-02-08 |
| SG11201805119QA (en) | 2018-07-30 |
| JP7802731B2 (ja) | 2026-01-20 |
| JP2021101732A (ja) | 2021-07-15 |
| CN108603228A (zh) | 2018-09-28 |
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