BR112021022879A2 - Sistemas e métodos para avaliação de fração tumoral - Google Patents

Sistemas e métodos para avaliação de fração tumoral

Info

Publication number
BR112021022879A2
BR112021022879A2 BR112021022879A BR112021022879A BR112021022879A2 BR 112021022879 A2 BR112021022879 A2 BR 112021022879A2 BR 112021022879 A BR112021022879 A BR 112021022879A BR 112021022879 A BR112021022879 A BR 112021022879A BR 112021022879 A2 BR112021022879 A2 BR 112021022879A2
Authority
BR
Brazil
Prior art keywords
methods
tumor fraction
systems
sample
metric
Prior art date
Application number
BR112021022879A
Other languages
English (en)
Inventor
Bernard Fendler
D Hughes Jason
Steven Roels
Original Assignee
Found Medicine Inc
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 Found Medicine Inc filed Critical Found Medicine Inc
Publication of BR112021022879A2 publication Critical patent/BR112021022879A2/pt

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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
    • 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
    • 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
    • C12Q2600/112—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
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Medical Informatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Organic Chemistry (AREA)
  • Data Mining & Analysis (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Pathology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Public Health (AREA)
  • Epidemiology (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Evolutionary Computation (AREA)
  • Software Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Microbiology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Primary Health Care (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

sistemas e métodos para avaliação de fração tumoral. a presente invenção refere-se a, pelo menos em parte, métodos para determinar uma fração tumoral de uma amostra de um indivíduo. os métodos podem incluir, por exemplo, adquirir um valor para uma variável alvo associada a um intervalo subgenômico na amostra; determinar, a partir da variável alvo, uma métrica de certeza; acessar uma relação determinada entre uma métrica de certeza armazenada e uma fração tumoral armazenada; e determinar, com referência à métrica de certeza e à relação determinada, a fração tumoral da amostra.
BR112021022879A 2019-05-20 2020-05-20 Sistemas e métodos para avaliação de fração tumoral BR112021022879A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201962850474P 2019-05-20 2019-05-20
PCT/US2020/033821 WO2020236941A1 (en) 2019-05-20 2020-05-20 Systems and methods for evaluating tumor fraction

Publications (1)

Publication Number Publication Date
BR112021022879A2 true BR112021022879A2 (pt) 2022-03-22

Family

ID=73458622

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112021022879A BR112021022879A2 (pt) 2019-05-20 2020-05-20 Sistemas e métodos para avaliação de fração tumoral

Country Status (11)

Country Link
US (1) US20220243279A1 (pt)
EP (1) EP3973530A4 (pt)
JP (1) JP2022533137A (pt)
KR (1) KR20220011140A (pt)
CN (1) CN114026646A (pt)
AU (1) AU2020279752A1 (pt)
BR (1) BR112021022879A2 (pt)
CA (1) CA3140066A1 (pt)
IL (1) IL288182A (pt)
SG (1) SG11202111947PA (pt)
WO (1) WO2020236941A1 (pt)

Families Citing this family (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP4256075A4 (en) * 2020-12-03 2024-10-23 Found Medicine Inc TREE-BASED MODEL FOR SELECTING TREATMENTS AND DETERMINING EXPECTED TREATMENT OUTCOMES
EP4359569A1 (en) * 2021-06-22 2024-05-01 Foundation Medicine, Inc. Systems and methods for evaluating tumor fraction
EP4374376A1 (en) * 2021-07-23 2024-05-29 Foundation Medicine, Inc. Methods for determining variant frequency and monitoring disease progression
CN118103916A (zh) * 2021-10-08 2024-05-28 基金会医学公司 用于检测和去除针对拷贝数改变调用的污染的方法和系统
EP4437122A1 (en) * 2021-11-23 2024-10-02 Foundation Medicine, Inc. Methods and systems for reporting clinically-actionable potential germline pathogenic variant sequences
WO2023107869A1 (en) 2021-12-08 2023-06-15 Foundation Medicine, Inc. Methods and systems for highlighting clinical information in diagnostic reports
CN114530200B (zh) * 2022-03-18 2022-09-23 北京阅微基因技术股份有限公司 基于计算snp熵值的混合样本鉴定方法
WO2024015973A1 (en) * 2022-07-15 2024-01-18 Foundation Medicine, Inc. Methods and systems for determining circulating tumor dna fraction in a patient sample
WO2024081859A2 (en) * 2022-10-14 2024-04-18 Foundation Medicine, Inc. Methods and systems for performing genomic variant calls based on identified off-target sequence reads
WO2024112967A1 (en) * 2022-11-27 2024-05-30 The University Of Chicago Methods for treating cancer with immunotherapy

Family Cites Families (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110301854A1 (en) * 2010-06-08 2011-12-08 Curry Bo U Method of Determining Allele-Specific Copy Number of a SNP
EP2875149B1 (en) * 2012-07-20 2019-12-04 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
WO2015164432A1 (en) * 2014-04-21 2015-10-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
HUE058263T2 (hu) * 2015-02-10 2022-07-28 Univ Hong Kong Chinese Mutációk detektálása rákszûrési és magzatelemzési célból
CA3067419A1 (en) * 2017-06-20 2018-12-27 Illumina, Inc. Methods and systems for decomposition and quantification of dna mixtures from multiple contributors of known or unknown genotypes

Also Published As

Publication number Publication date
JP2022533137A (ja) 2022-07-21
AU2020279752A1 (en) 2022-01-06
EP3973530A1 (en) 2022-03-30
CA3140066A1 (en) 2020-11-26
CN114026646A (zh) 2022-02-08
US20220243279A1 (en) 2022-08-04
SG11202111947PA (en) 2021-12-30
WO2020236941A1 (en) 2020-11-26
EP3973530A4 (en) 2023-08-02
KR20220011140A (ko) 2022-01-27
IL288182A (en) 2022-01-01

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