MX2024001256A - Metodos para la deteccion de cambios de copia genomica en muestras de adn. - Google Patents

Metodos para la deteccion de cambios de copia genomica en muestras de adn.

Info

Publication number
MX2024001256A
MX2024001256A MX2024001256A MX2024001256A MX2024001256A MX 2024001256 A MX2024001256 A MX 2024001256A MX 2024001256 A MX2024001256 A MX 2024001256A MX 2024001256 A MX2024001256 A MX 2024001256A MX 2024001256 A MX2024001256 A MX 2024001256A
Authority
MX
Mexico
Prior art keywords
methods
detection
dna samples
genomic copy
copy changes
Prior art date
Application number
MX2024001256A
Other languages
English (en)
Inventor
Christopher K Raymond
Lee P Lim
Jennifer Hernandez
Original Assignee
Resolution Bioscience 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 Resolution Bioscience Inc filed Critical Resolution Bioscience Inc
Publication of MX2024001256A publication Critical patent/MX2024001256A/es

Links

Classifications

    • 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
    • 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
    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/686—Polymerase chain reaction [PCR]
    • 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
    • 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
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/10—Gene or protein expression profiling; Expression-ratio estimation or normalisation
    • 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
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6851—Quantitative amplification
    • 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
    • C12Q2523/00—Reactions characterised by treatment of reaction samples
    • C12Q2523/30—Characterised by physical treatment
    • C12Q2523/301—Sonication
    • 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
    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/191—Modifications characterised by incorporating an adaptor
    • 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
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/114—Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step
    • 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
    • C12Q2563/00—Nucleic acid detection characterized by the use of physical, structural and functional properties
    • C12Q2563/159—Microreactors, e.g. emulsion PCR or sequencing, droplet PCR, microcapsules, i.e. non-liquid containers with a range of different permeability's for different reaction components
    • 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
    • C12Q2563/00—Nucleic acid detection characterized by the use of physical, structural and functional properties
    • C12Q2563/179—Nucleic acid detection characterized by the use of physical, structural and functional properties the label being a nucleic acid
    • 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
    • C40—COMBINATORIAL TECHNOLOGY
    • C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B40/00—Libraries per se, e.g. arrays, mixtures
    • C40B40/04—Libraries containing only organic compounds
    • C40B40/06—Libraries containing nucleotides or polynucleotides, or derivatives thereof
    • C40B40/08—Libraries containing RNA or DNA which encodes proteins, e.g. gene libraries
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2570/00—Omics, e.g. proteomics, glycomics or lipidomics; Methods of analysis focusing on the entire complement of classes of biological molecules or subsets thereof, i.e. focusing on proteomes, glycomes or lipidomes
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/70—Mechanisms involved in disease identification
    • G01N2800/7023—(Hyper)proliferation
    • G01N2800/7028—Cancer

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pathology (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Physiology (AREA)
  • Ecology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

La presente invención se refiere a composiciones y métodos útiles para la detección de un cambio mutacional, SNP, translocación, inversión, deleción, cambio del número de copias u otra variación genética dentro de una muestra de ADN genómico celular o ADN libre de células (cfADN). En algunas modalidades, las composiciones y métodos de la presente invención proporcionan un nivel de resolución extremadamente alto que es particularmente útil en la detección de variaciones del número de copias en una pequeña fracción del cfADN total de una muestra biológica (por ejemplo, sangre).
MX2024001256A 2016-08-25 2019-02-21 Metodos para la deteccion de cambios de copia genomica en muestras de adn. MX2024001256A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201662379593P 2016-08-25 2016-08-25
US201762481538P 2017-04-04 2017-04-04

Publications (1)

Publication Number Publication Date
MX2024001256A true MX2024001256A (es) 2024-02-15

Family

ID=61245331

Family Applications (2)

Application Number Title Priority Date Filing Date
MX2019002093A MX2019002093A (es) 2016-08-25 2017-08-24 Métodos para la detección de cambios de copia genómica en muestras de adn.
MX2024001256A MX2024001256A (es) 2016-08-25 2019-02-21 Metodos para la deteccion de cambios de copia genomica en muestras de adn.

Family Applications Before (1)

Application Number Title Priority Date Filing Date
MX2019002093A MX2019002093A (es) 2016-08-25 2017-08-24 Métodos para la detección de cambios de copia genómica en muestras de adn.

Country Status (13)

Country Link
US (2) US11319594B2 (es)
EP (1) EP3504347A4 (es)
JP (4) JP7217224B2 (es)
KR (2) KR20230035431A (es)
CN (2) CN117286217A (es)
AU (2) AU2017315769B2 (es)
BR (1) BR112019003704A2 (es)
CA (1) CA3034649A1 (es)
IL (2) IL312894A (es)
MX (2) MX2019002093A (es)
RU (1) RU2019108294A (es)
SG (1) SG11201901371XA (es)
WO (1) WO2018039463A1 (es)

Families Citing this family (19)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3561072A1 (en) 2012-12-10 2019-10-30 Resolution Bioscience, Inc. Methods for targeted genomic analysis
ES2856598T3 (es) 2015-11-11 2021-09-27 Resolution Bioscience Inc Construcción de alta eficiencia de bibliotecas de ADN
RU2019108294A (ru) * 2016-08-25 2020-09-25 Резолюшн Байосайенс, Инк. Способы обнаружения изменений количества геномных копий в образцах днк
US11767562B2 (en) 2018-03-08 2023-09-26 St. John's University Circulating serum cell-free DNA biomarkers and methods
CA3094717A1 (en) 2018-04-02 2019-10-10 Grail, Inc. Methylation markers and targeted methylation probe panels
CN113286881A (zh) 2018-09-27 2021-08-20 格里尔公司 甲基化标记和标靶甲基化探针板
CN111118610A (zh) * 2018-10-31 2020-05-08 深圳华大基因股份有限公司 用于基因突变高深度测序的基因芯片及其制备方法和应用
CN112930407A (zh) * 2018-11-02 2021-06-08 加利福尼亚大学董事会 使用非人类核酸诊断和治疗癌症的方法
JP2022544626A (ja) * 2019-08-19 2022-10-19 グリーン クロス ゲノム コーポレーション 核酸断片間距離情報を用いた染色体異常検出方法
KR102452413B1 (ko) * 2019-08-19 2022-10-11 주식회사 지씨지놈 핵산 단편간 거리 정보를 이용한 염색체 이상 검출 방법
KR102184277B1 (ko) * 2020-01-16 2020-11-30 성균관대학교산학협력단 초음파 진단 및 dna 검사 일체형 ai 자가 건강 관리 장치 및 이를 이용한 원격 의료 진단 방법
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
CN113496760B (zh) * 2020-04-01 2024-01-12 深圳华大基因科技服务有限公司 基于第三代测序的多倍体基因组组装方法和装置
CN113113085B (zh) * 2021-03-15 2022-08-19 杭州杰毅生物技术有限公司 基于智能宏基因组测序数据肿瘤检测的分析系统及方法
GB202108237D0 (en) * 2021-06-09 2021-07-21 Univ London Cancer methods
CN114649094B (zh) * 2022-03-30 2022-11-15 广东省人民医院 一种基于核磁共振的乳腺癌多参数临床决策辅助装置
JP2024531424A (ja) 2022-08-04 2024-08-29 エルジー エナジー ソリューション リミテッド バッテリーパック

Family Cites Families (105)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5591582A (en) 1985-07-23 1997-01-07 The Board Of Rijks Universiteit Leiden Methods for detecting activated RAS oncogenes
US5888731A (en) 1995-08-30 1999-03-30 Visible Genetics Inc. Method for identification of mutations using ligation of multiple oligonucleotide probes
US5972618A (en) 1997-08-28 1999-10-26 Bloch; Will Detection of mutations in nucleic acids by chemical cleavage
US6480791B1 (en) 1998-10-28 2002-11-12 Michael P. Strathmann Parallel methods for genomic analysis
US6812341B1 (en) 2001-05-11 2004-11-02 Ambion, Inc. High efficiency mRNA isolation methods and compositions
AU2002365028A1 (en) 2001-07-17 2003-06-30 Stratagene Methods for detection of a target nucleic acid using multi-subunit probes
AU2002322518A1 (en) 2001-08-31 2003-03-18 Rosetta Inpharmactis Llc Methods for preparing nucleic acid samples
US7361821B2 (en) 2002-09-20 2008-04-22 Intel Corporation Controlled alignment of nanobarcodes encoding specific information for scanning probe microscopy (SPM) reading
AU2003284420A1 (en) 2002-12-11 2004-06-30 Keio University Method of constructing assigned molecule and library comprising the same and method of using the same
TW200506052A (en) 2003-05-07 2005-02-16 Takara Bio Inc Method of analyzing DNA region
US7393665B2 (en) 2005-02-10 2008-07-01 Population Genetics Technologies Ltd Methods and compositions for tagging and identifying polynucleotides
AU2006269820B2 (en) 2005-07-07 2012-01-19 Athlomics Pty Ltd Polynucleotide marker genes and their expression, for diagnosis of endotoxemia
GB0522310D0 (en) 2005-11-01 2005-12-07 Solexa Ltd Methods of preparing libraries of template polynucleotides
EP1989318B1 (en) 2006-01-06 2014-07-30 Agilent Technologies, Inc. Reaction buffer composition for nucleic acid replication with packed dna polymerases
WO2007087312A2 (en) 2006-01-23 2007-08-02 Population Genetics Technologies Ltd. Molecular counting
US8383338B2 (en) 2006-04-24 2013-02-26 Roche Nimblegen, Inc. Methods and systems for uniform enrichment of genomic regions
US7754429B2 (en) 2006-10-06 2010-07-13 Illumina Cambridge Limited Method for pair-wise sequencing a plurity of target polynucleotides
WO2008045158A1 (en) 2006-10-10 2008-04-17 Illumina, Inc. Compositions and methods for representational selection of nucleic acids fro complex mixtures using hybridization
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
WO2009023676A1 (en) 2007-08-12 2009-02-19 Integrated Dna Technologies, Inc. Microarray system with improved sequence specificity
US9388457B2 (en) 2007-09-14 2016-07-12 Affymetrix, Inc. Locus specific amplification using array probes
CA2707901C (en) 2007-12-05 2015-09-15 Complete Genomics, Inc. Efficient base determination in sequencing reactions
WO2009091798A1 (en) 2008-01-16 2009-07-23 Helicos Biosciences Corporation Quantitative genetic analysis
US8202691B2 (en) 2008-01-25 2012-06-19 Illumina, Inc. Uniform fragmentation of DNA using binding proteins
WO2011025477A1 (en) 2009-08-25 2011-03-03 Illumina, Inc. Methods for selecting and amplifying polynucleotides
US8383345B2 (en) 2008-09-12 2013-02-26 University Of Washington Sequence tag directed subassembly of short sequencing reads into long sequencing reads
US8728764B2 (en) 2008-10-02 2014-05-20 Illumina Cambridge Limited Nucleic acid sample enrichment for sequencing applications
WO2010068856A1 (en) 2008-12-11 2010-06-17 Trustees Of Boston University Isolation of rna
KR101829182B1 (ko) 2009-04-02 2018-03-29 플루이다임 코포레이션 표적 핵산의 바코딩을 위한 멀티 프라이머 증폭 방법
US9085798B2 (en) 2009-04-30 2015-07-21 Prognosys Biosciences, Inc. Nucleic acid constructs and methods of use
US20110003301A1 (en) 2009-05-08 2011-01-06 Life Technologies Corporation Methods for detecting genetic variations in dna samples
US9315857B2 (en) 2009-12-15 2016-04-19 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse label-tags
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US10378064B1 (en) 2010-04-16 2019-08-13 Chronix Biomedical Analyzing circulating nucleic acids to identify a biomarker representative of cancer presented by a patient population
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US8828688B2 (en) 2010-05-27 2014-09-09 Affymetrix, Inc. Multiplex amplification methods
CN103119439A (zh) 2010-06-08 2013-05-22 纽亘技术公司 用于多重测序的方法和组合物
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
IN2013MN00522A (es) 2010-09-24 2015-05-29 Univ Leland Stanford Junior
EP2646579B1 (en) 2010-11-30 2017-06-14 The Chinese University Of Hong Kong Detection of genetic or molecular aberrations associated with cancer
KR20140024270A (ko) 2010-12-30 2014-02-28 파운데이션 메디신 인코포레이티드 종양 샘플의 다유전자 분석의 최적화
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
CN103797129B (zh) 2011-04-12 2016-08-17 维里纳塔健康公司 使用多态计数来解析基因组分数
US9476095B2 (en) 2011-04-15 2016-10-25 The Johns Hopkins University Safe sequencing system
WO2013056178A2 (en) 2011-10-14 2013-04-18 Foundation Medicine, Inc. Novel estrogen receptor mutations and uses thereof
CN103103624B (zh) 2011-11-15 2014-12-31 深圳华大基因科技服务有限公司 高通量测序文库的构建方法及其应用
US10227587B2 (en) 2012-01-10 2019-03-12 Berry Genomics Co., Ltd. Method for constructing a plasma DNA sequencing library
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
DK2828218T3 (da) 2012-03-20 2020-11-02 Univ Washington Through Its Center For Commercialization Methods of lowering the error rate of massively parallel dna sequencing using duplex consensus sequencing
US20130288915A1 (en) 2012-04-27 2013-10-31 Htg Molecular Diagnostics, Inc. Compositions and methods for alk molecular testing
EP2855707B1 (en) 2012-05-31 2017-07-12 Board Of Regents, The University Of Texas System Method for accurate sequencing of dna
SG10201610861XA (en) 2012-07-03 2017-02-27 Integrated Dna Tech Inc Tm-enhanced blocking oligonucleotides and baits for improved target enrichment and reduced off-target selection
ES2742285T3 (es) 2012-07-31 2020-02-13 Novartis Ag Marcadores asociados con la sensibilidad a inhibidores del doble minuto humano 2 (MDM2)
EP4119676A1 (en) 2012-08-03 2023-01-18 Foundation Medicine, Inc. Human papilloma virus as predictor of cancer prognosis
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
CA2883901C (en) 2012-09-04 2023-04-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
CA2886605A1 (en) 2012-09-28 2014-04-03 Cepheid Two-primer pcr for microrna multiplex assay
US10482994B2 (en) * 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2887094C (en) 2012-10-04 2021-09-07 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20150291953A1 (en) 2012-11-02 2015-10-15 Enzymatics Inc. Methods and kits for nucleic acid sample preparation for sequencing
CA2890207A1 (en) 2012-11-05 2014-05-08 Foundation Medicine, Inc. Novel ntrk1 fusion molecules and uses thereof
EP3561072A1 (en) 2012-12-10 2019-10-30 Resolution Bioscience, Inc. Methods for targeted genomic analysis
WO2014093825A1 (en) 2012-12-14 2014-06-19 Chronix Biomedical Personalized biomarkers for cancer
US11158425B2 (en) 2013-01-05 2021-10-26 Foundation Medicine, Inc. System and method for managing genomic information
WO2014116881A1 (en) * 2013-01-23 2014-07-31 Reproductive Genetics And Technology Solutions, Llc Compositions and methods for genetic analysis of embryos
US10745686B2 (en) 2013-02-08 2020-08-18 Qiagen Gmbh Method for separating DNA by size
EP3421613B1 (en) 2013-03-15 2020-08-19 The Board of Trustees of the Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
AU2014233373B2 (en) 2013-03-15 2019-10-24 Verinata Health, Inc. Generating cell-free DNA libraries directly from blood
CA2912059A1 (en) 2013-05-10 2014-11-13 Foundation Medicine, Inc. Analysis of genetic variants
US20150072344A1 (en) 2013-09-10 2015-03-12 Imdaptive Incorporated Barcoded Universal Marker Indicator (BUMI) Tags
US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
EP3068883B1 (en) 2013-11-13 2020-04-29 Nugen Technologies, Inc. Compositions and methods for identification of a duplicate sequencing read
CN103668471B (zh) 2013-12-19 2015-09-30 上海交通大学 一种构建dna高通量测序文库的方法及其配套试剂盒
EP3087204B1 (en) 2013-12-28 2018-02-14 Guardant Health, Inc. Methods and systems for detecting genetic variants
CN109971826B (zh) 2014-01-31 2022-12-30 斯威夫特生物科学股份有限公司 用于加工dna底物的改进方法
US10208338B2 (en) * 2014-03-03 2019-02-19 Swift Biosciences, Inc. Enhanced adaptor ligation
US10975371B2 (en) 2014-04-29 2021-04-13 Illumina, Inc. Nucleic acid sequence analysis from single cells
MX2016016904A (es) 2014-06-26 2017-03-27 10X Genomics Inc Analisis de secuencias de acidos nucleicos.
US10102337B2 (en) * 2014-08-06 2018-10-16 Nugen Technologies, Inc. Digital measurements from targeted sequencing
DK3194612T3 (da) * 2014-08-22 2024-10-14 Resolution Bioscience Inc Fremgangsmåder til kvantitativ genetisk analyse af cellefrit dna
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
CN106661636A (zh) 2014-09-05 2017-05-10 凯杰有限公司 衔接子连接的扩增子的制备
ES2925014T3 (es) 2014-09-12 2022-10-13 Univ Leland Stanford Junior Identificación y uso de ácidos nucleicos circulantes
AU2014406026B2 (en) 2014-09-12 2018-08-23 Mgi Tech Co., Ltd. Isolated oligonucleotide and use thereof in nucleic acid sequencing
JP6905934B2 (ja) 2014-12-05 2021-07-21 ファウンデーション・メディシン・インコーポレイテッド 腫瘍試料の多重遺伝子分析
WO2016094853A1 (en) 2014-12-12 2016-06-16 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
CN107406876B (zh) 2014-12-31 2021-09-07 夸登特健康公司 表现出病变细胞异质性的疾病的检测和治疗以及用于传送测试结果的系统和方法
CN113957124A (zh) 2015-02-10 2022-01-21 香港中文大学 用于癌症筛查和胎儿分析的突变检测
HUE057821T2 (hu) 2015-07-23 2022-06-28 Univ Hong Kong Chinese Sejtmentes DNS fragmentációs mintázatának elemzése
CN108474040B (zh) 2015-10-09 2023-05-16 夸登特健康公司 使用无细胞dna的基于群体的治疗推荐
ES2796501T3 (es) 2015-10-10 2020-11-27 Guardant Health Inc Métodos y aplicaciones de la detección de fusión de genes en el análisis de ADN sin células
ES2856598T3 (es) 2015-11-11 2021-09-27 Resolution Bioscience Inc Construcción de alta eficiencia de bibliotecas de ADN
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CA3014653C (en) 2016-02-29 2023-09-19 Zachary R. Chalmers Methods and systems for evaluating tumor mutational burden
WO2017214557A1 (en) 2016-06-10 2017-12-14 Counsyl, Inc. Nucleic acid sequencing adapters and uses thereof
RU2019108294A (ru) * 2016-08-25 2020-09-25 Резолюшн Байосайенс, Инк. Способы обнаружения изменений количества геномных копий в образцах днк
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
KR102344635B1 (ko) 2016-09-30 2021-12-31 가던트 헬쓰, 인크. 무세포 핵산의 다중-해상도 분석 방법
WO2018094183A1 (en) 2016-11-17 2018-05-24 Seracare Life Sciences, Inc. Methods for preparing dna reference material and controls
WO2018104908A2 (en) 2016-12-09 2018-06-14 Boreal Genomics, Inc. Linked ligation
PL3885445T3 (pl) 2017-04-14 2024-01-29 Guardant Health, Inc. Sposoby przyłączania adapterów do próbek kwasów nukleinowych
GB2595076B8 (en) 2018-11-21 2023-08-23 Agilent Technologies Inc Methods for targeted nucleic acid library formation

Also Published As

Publication number Publication date
KR102505122B1 (ko) 2023-03-08
SG11201901371XA (en) 2019-03-28
AU2024202414A1 (en) 2024-06-13
IL264971B1 (en) 2024-06-01
JP7217224B2 (ja) 2023-02-02
EP3504347A4 (en) 2020-04-29
JP2019526257A (ja) 2019-09-19
CN109804080A (zh) 2019-05-24
KR20230035431A (ko) 2023-03-13
US11319594B2 (en) 2022-05-03
EP3504347A1 (en) 2019-07-03
US20180163272A1 (en) 2018-06-14
AU2017315769A1 (en) 2019-03-21
MX2019002093A (es) 2019-06-20
RU2019108294A (ru) 2020-09-25
WO2018039463A1 (en) 2018-03-01
IL312894A (en) 2024-07-01
US20220325353A1 (en) 2022-10-13
JP7304393B2 (ja) 2023-07-06
CN117286217A (zh) 2023-12-26
CN109804080B (zh) 2023-07-21
IL264971B2 (en) 2024-10-01
JP2024107320A (ja) 2024-08-08
JP2023078336A (ja) 2023-06-06
CA3034649A1 (en) 2018-03-01
AU2017315769B2 (en) 2024-02-01
KR20190041510A (ko) 2019-04-22
BR112019003704A2 (pt) 2019-05-28
JP2022023213A (ja) 2022-02-07
IL264971A (es) 2019-04-30

Similar Documents

Publication Publication Date Title
MX2024001256A (es) Metodos para la deteccion de cambios de copia genomica en muestras de adn.
Liu et al. Cancer-specific telomerase reverse transcriptase (TERT) promoter mutations: biological and clinical implications
Hör et al. Bacterial RNA biology on a genome scale
GB2568608A (en) Personalized genetic testing
McInerney et al. Why prokaryotes have pangenomes
Singh et al. Cell-cycle control of bivalent epigenetic domains regulates the exit from pluripotency
Buenrostro et al. ATAC‐seq: a method for assaying chromatin accessibility genome‐wide
Song et al. Preservation methods differ in fecal microbiome stability, affecting suitability for field studies
Price et al. Cas9-mediated targeting of viral RNA in eukaryotic cells
Carroll et al. Genome-wide annotation, identification, and global transcriptomic analysis of regulatory or small RNA gene expression in Staphylococcus aureus
Freire-Benéitez et al. Candida albicans repetitive elements display epigenetic diversity and plasticity
BR112018002848A2 (pt) método, aparelho, mídia de armazenamento não transitório, programa de computador, kit para medir níveis de expressão de seis ou mais genes-alvo da via de sinalização celular
Toyama et al. Metagenomics analysis of microorganisms in freshwater lakes of the Amazon Basin
Ogando et al. Structure–function analysis of the nsp14 N7–guanine methyltransferase reveals an essential role in Betacoronavirus replication
Despic et al. mRNA ageing shapes the Cap2 methylome in mammalian mRNA
Liu et al. Insights into the evolving epidemiology of Clostridioides difficile infection and treatment: a global perspective
BR112014026440A2 (pt) assays, methods and apparatus for assessing rna disruption
You et al. Regulatory protein SrpA controls phage infection and core cellular processes in Pseudomonas aeruginosa
Parker et al. Altered subgenomic RNA expression in SARS-CoV-2 B. 1.1. 7 infections
Cacciò et al. Geographical segregation of Cryptosporidium parvum multilocus genotypes in Europe
Triana et al. Draft genome sequence of the animal and human pathogen Malassezia pachydermatis strain CBS 1879
Zhou et al. Storage media and not extraction method has the biggest impact on recovery of bacteria from the oral microbiome
Golubeva et al. Germline missense variants in BRCA1: new trends and challenges for clinical annotation
Smith et al. Stygofauna enhance prokaryotic transport in groundwater ecosystems
Oparka et al. The C134W (402 C> G) FOXL2 mutation is absent in ovarian gynandroblastoma: insights into the genesis of an unusual tumour