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 PDF

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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
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genetic loci
data set
genetic
sequencing
baselining
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CA3008651A
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English (en)
French (fr)
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Helmy Eltoukhy
AmirAli TALASAZ
Darya CHUDOVA
Diana ABDUEVA
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Guardant Health Inc
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Guardant Health Inc
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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809Methods for determination or identification of nucleic acids involving differential detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • C12Q1/6874Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B99/00Subject matter not provided for in other groups of this subclass

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  • 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)
CA3008651A 2015-12-17 2016-12-16 Methods to determine tumor gene copy number by analysis of cell-free dna Pending CA3008651A1 (en)

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

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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)

* Cited by examiner, † Cited by third party
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

Family Cites Families (289)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4725536A (en) 1985-09-19 1988-02-16 Genetics Institute, Inc. Reagent polynucleotide complex with multiple target binding regions, and kit and methods
US6150517A (en) 1986-11-24 2000-11-21 Gen-Probe Methods for making oligonucleotide probes for the detection and/or quantitation of non-viral organisms
US5149625A (en) 1987-08-11 1992-09-22 President And Fellows Of Harvard College Multiplex analysis of DNA
US4942124A (en) 1987-08-11 1990-07-17 President And Fellows Of Harvard College Multiplex sequencing
US5656731A (en) 1987-10-15 1997-08-12 Chiron Corporation Nucleic acid-amplified immunoassay probes
US5124246A (en) 1987-10-15 1992-06-23 Chiron Corporation Nucleic acid multimers and amplified nucleic acid hybridization assays using same
US5925525A (en) 1989-06-07 1999-07-20 Affymetrix, Inc. Method of identifying nucleotide differences
US6551784B2 (en) 1989-06-07 2003-04-22 Affymetrix Inc Method of comparing nucleic acid sequences
US5424186A (en) 1989-06-07 1995-06-13 Affymax Technologies N.V. Very large scale immobilized polymer synthesis
US5800992A (en) 1989-06-07 1998-09-01 Fodor; Stephen P.A. Method of detecting nucleic acids
US5744101A (en) 1989-06-07 1998-04-28 Affymax Technologies N.V. Photolabile nucleoside protecting groups
US6309822B1 (en) 1989-06-07 2001-10-30 Affymetrix, Inc. Method for comparing copy number of nucleic acid sequences
US5143854A (en) 1989-06-07 1992-09-01 Affymax Technologies N.V. Large scale photolithographic solid phase synthesis of polypeptides and receptor binding screening thereof
US5871928A (en) 1989-06-07 1999-02-16 Fodor; Stephen P. A. Methods for nucleic acid analysis
US6040138A (en) 1995-09-15 2000-03-21 Affymetrix, Inc. Expression monitoring by hybridization to high density oligonucleotide arrays
US5200314A (en) 1990-03-23 1993-04-06 Chiron Corporation Polynucleotide capture assay employing in vitro amplification
US6582908B2 (en) 1990-12-06 2003-06-24 Affymetrix, Inc. Oligonucleotides
EP0834575B1 (en) 1990-12-06 2001-11-28 Affymetrix, Inc. (a Delaware Corporation) Identification of nucleic acids in samples
US5981179A (en) 1991-11-14 1999-11-09 Digene Diagnostics, Inc. Continuous amplification reaction
US5424413A (en) 1992-01-22 1995-06-13 Gen-Probe Incorporated Branched nucleic acid probes
US5573905A (en) 1992-03-30 1996-11-12 The Scripps Research Institute Encoded combinatorial chemical libraries
US6020124A (en) 1992-04-27 2000-02-01 Trustees Of Dartmouth College Detection of soluble gene sequences in biological fluids
US5981176A (en) 1992-06-17 1999-11-09 City Of Hope Method of detecting and discriminating between nucleic acid sequences
DE69431719T2 (de) 1993-06-25 2003-09-18 Affymetrix, Inc. (N.D.Ges.D.Staates Delaware) Hybridisierung und sequenzierung von nukleinsäuren
US5500356A (en) 1993-08-10 1996-03-19 Life Technologies, Inc. Method of nucleic acid sequence selection
US6309823B1 (en) 1993-10-26 2001-10-30 Affymetrix, Inc. Arrays of nucleic acid probes for analyzing biotransformation genes and methods of using the same
US5681697A (en) 1993-12-08 1997-10-28 Chiron Corporation Solution phase nucleic acid sandwich assays having reduced background noise and kits therefor
CH686982A5 (fr) 1993-12-16 1996-08-15 Maurice Stroun Méthode pour le diagnostic de cancers.
US20030017081A1 (en) 1994-02-10 2003-01-23 Affymetrix, Inc. Method and apparatus for imaging a sample on a device
US5714330A (en) 1994-04-04 1998-02-03 Lynx Therapeutics, Inc. DNA sequencing by stepwise ligation and cleavage
US5604097A (en) 1994-10-13 1997-02-18 Spectragen, Inc. Methods for sorting polynucleotides using oligonucleotide tags
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
US6013445A (en) 1996-06-06 2000-01-11 Lynx Therapeutics, Inc. Massively parallel signature sequencing by ligation of encoded adaptors
US5695934A (en) 1994-10-13 1997-12-09 Lynx Therapeutics, Inc. Massively parallel sequencing of sorted polynucleotides
US6600996B2 (en) 1994-10-21 2003-07-29 Affymetrix, Inc. Computer-aided techniques for analyzing biological sequences
DE69535240T2 (de) 1994-10-28 2007-06-06 Gen-Probe Inc., San Diego Zusammensetzungen und Verfahren für die gleichzeitige Detektion und Quantifizierung von einer Mehrheit spezifischer Nuklein Säure Sequenzen
US5750341A (en) 1995-04-17 1998-05-12 Lynx Therapeutics, Inc. DNA sequencing by parallel oligonucleotide extensions
US5648245A (en) 1995-05-09 1997-07-15 Carnegie Institution Of Washington Method for constructing an oligonucleotide concatamer library by rolling circle replication
US5968740A (en) 1995-07-24 1999-10-19 Affymetrix, Inc. Method of Identifying a Base in a Nucleic Acid
GB9516636D0 (en) 1995-08-14 1995-10-18 Univ London In-situ nucleic acid amplification and detection
US5763175A (en) 1995-11-17 1998-06-09 Lynx Therapeutics, Inc. Simultaneous sequencing of tagged polynucleotides
US5854033A (en) 1995-11-21 1998-12-29 Yale University Rolling circle replication reporter systems
AU2324997A (en) 1996-03-15 1997-10-01 Penn State Research Foundation, The Detection of extracellular tumor-associated nucleic acid in blood plasma or ser um using nucleic acid amplification assays
DE69739909D1 (de) 1996-03-26 2010-07-29 Michael S Kopreski Methoden aus plasma oder serum extrahierte extrazelluraere rna zur diagnoseüberwachung oder evaluation von krebs verwenden
US6458530B1 (en) 1996-04-04 2002-10-01 Affymetrix Inc. Selecting tag nucleic acids
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US5935793A (en) 1996-09-27 1999-08-10 The Chinese University Of Hong Kong Parallel polynucleotide sequencing method using tagged primers
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
US6124092A (en) 1996-10-04 2000-09-26 The Perkin-Elmer Corporation Multiplex polynucleotide capture methods and compositions
US6117631A (en) 1996-10-29 2000-09-12 Polyprobe, Inc. Detection of antigens via oligonucleotide antibody conjugates
US6046005A (en) 1997-01-15 2000-04-04 Incyte Pharmaceuticals, Inc. Nucleic acid sequencing with solid phase capturable terminators comprising a cleavable linking group
JP4294740B2 (ja) 1997-05-23 2009-07-15 ソレクサ・インコーポレイテッド 分析物の系列的プロセシングのためのシステムおよび装置
AU1603199A (en) 1997-12-03 1999-06-16 Curagen Corporation Methods and devices for measuring differential gene expression
US6054276A (en) 1998-02-23 2000-04-25 Macevicz; Stephen C. DNA restriction site mapping
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
AU5584999A (en) 1998-08-28 2000-03-21 Invitrogen Corporation System for the rapid manipulation of nucleic acid sequences
WO2000014282A1 (en) 1998-09-04 2000-03-16 Lynx Therapeutics, Inc. Method of screening for genetic polymorphism
US6503718B2 (en) 1999-01-10 2003-01-07 Exact Sciences Corporation Methods for detecting mutations using primer extension for detecting disease
GB9901475D0 (en) 1999-01-22 1999-03-17 Pyrosequencing Ab A method of DNA sequencing
AU2308900A (en) 1999-02-05 2000-08-25 Amersham Pharmacia Biotech Uk Limited Analysis method
US6629040B1 (en) 1999-03-19 2003-09-30 University Of Washington Isotope distribution encoded tags for protein identification
JP2002539849A (ja) 1999-03-26 2002-11-26 ホワイトヘッド インスチチュート フォアー バイオメディカル リサーチ ユニバーサルアレイ
EP1169479B1 (en) 1999-04-09 2006-06-28 EXACT Sciences Corporation Methods for detecting nucleic acids indicative of cancer
US6355431B1 (en) 1999-04-20 2002-03-12 Illumina, Inc. Detection of nucleic acid amplification reactions using bead arrays
EP1046717B1 (en) 1999-04-20 2010-10-06 National Institute of Advanced Industrial Science and Technology Method and probes for determining a concentration of target nucleic acid molecules and method for analyzing data obtained by the method
US6242186B1 (en) 1999-06-01 2001-06-05 Oy Jurilab Ltd. Method for detecting a risk of cancer and coronary heart disease and kit therefor
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
US6326148B1 (en) 1999-07-12 2001-12-04 The Regents Of The University Of California Detection of copy number changes in colon cancer
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
US6586177B1 (en) 1999-09-08 2003-07-01 Exact Sciences Corporation Methods for disease detection
US6849403B1 (en) 1999-09-08 2005-02-01 Exact Sciences Corporation Apparatus and method for drug screening
AU7537200A (en) 1999-09-29 2001-04-30 Solexa Ltd. Polynucleotide sequencing
CA2394921A1 (en) 1999-12-07 2001-06-14 Anthony P. Shuber Supracolonic aerodigestive neoplasm detection
US6489114B2 (en) 1999-12-17 2002-12-03 Bio Merieux Process for labeling a ribonucleic acid, and labeled RNA fragments which are obtained thereby
DK1259643T3 (da) 2000-02-07 2009-02-23 Illumina Inc Fremgangsmåde til detektion af nukleinsyre ved anvendelse af universel priming
GB2364054B (en) 2000-03-24 2002-05-29 Smithkline Beecham Corp Method of amplifying quinolone-resistance-determining-regions and identifying polymorphic variants thereof
US20030207300A1 (en) 2000-04-28 2003-11-06 Matray Tracy J. Multiplex analytical platform using molecular tags
EP1158055A1 (fr) 2000-05-26 2001-11-28 Xu Qi University of Teaxs Laboratoire de Leucémie Chen Méthode pour le diagnostic de cancers
DE60131903T2 (de) 2000-10-24 2008-11-27 The Board of Trustees of the Leland S. Stanford Junior University, Palo Alto Direkte multiplex charakterisierung von genomischer dna
US20020142345A1 (en) 2000-12-22 2002-10-03 Nelsen Anita J. Methods for encoding and decoding complex mixtures in arrayed assays
US20030049616A1 (en) 2001-01-08 2003-03-13 Sydney Brenner Enzymatic synthesis of oligonucleotide tags
JP5073888B2 (ja) 2001-03-28 2012-11-14 花王株式会社 静電荷像現像用トナー
US6849404B2 (en) 2001-05-07 2005-02-01 Bioneer Corporation Polymerase chain reaction of DNA of which base sequence is completely unidentified
US7406385B2 (en) 2001-10-25 2008-07-29 Applera Corporation System and method for consensus-calling with per-base quality values for sample assemblies
DK1342794T3 (da) 2002-03-05 2006-04-24 Epigenomics Ag Fremgangsmåde og anordning til at bestemme vævsspecificitet af fritflydende DNA i legemsvæsker
US20030186251A1 (en) 2002-04-01 2003-10-02 Brookhaven Science Associates, Llc Genome sequence tags
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
US7822555B2 (en) 2002-11-11 2010-10-26 Affymetrix, Inc. Methods for identifying DNA copy number changes
EP1578994A2 (en) 2002-11-11 2005-09-28 Affymetrix, Inc. Methods for identifying dna copy number changes
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
TW200504223A (en) * 2003-02-04 2005-02-01 Innovaceuticals Inc Methods of assessment of drug metabolizing enzymes
US20040209299A1 (en) 2003-03-07 2004-10-21 Rubicon Genomics, Inc. In vitro DNA immortalization and whole genome amplification using libraries generated from randomly fragmented DNA
WO2006102264A1 (en) 2005-03-18 2006-09-28 Fluidigm Corporation Thermal reaction device and method for using the same
US20040259118A1 (en) 2003-06-23 2004-12-23 Macevicz Stephen C. Methods and compositions for nucleic acid sequence analysis
US8048627B2 (en) 2003-07-05 2011-11-01 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
ATE435301T1 (de) 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
DE10348407A1 (de) 2003-10-17 2005-05-19 Widschwendter, Martin, Prof. Prognostische und diagnostische Marker für Zell-proliferative Erkrankungen von Brustgeweben
US20070111233A1 (en) 2003-10-30 2007-05-17 Bianchi Diana W Prenatal diagnosis using cell-free fetal DNA in amniotic fluid
US20060024681A1 (en) 2003-10-31 2006-02-02 Agencourt Bioscience Corporation Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof
WO2005071110A2 (en) 2004-01-23 2005-08-04 Lingvitae As Improving polynucleotide ligation reactions
WO2005080604A2 (en) 2004-02-12 2005-09-01 Compass Genetics, Llc Genetic analysis by sequence-specific sorting
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
WO2005111242A2 (en) 2004-05-10 2005-11-24 Parallele Bioscience, Inc. Digital profiling of polynucleotide populations
US7276720B2 (en) 2004-07-19 2007-10-02 Helicos Biosciences Corporation Apparatus and methods for analyzing samples
US20060035258A1 (en) 2004-08-06 2006-02-16 Affymetrix, Inc. Methods for identifying DNA copy number changes
US7937225B2 (en) 2004-09-03 2011-05-03 New York University Systems, methods and software arrangements for detection of genome copy number variation
US20060073506A1 (en) 2004-09-17 2006-04-06 Affymetrix, Inc. Methods for identifying biological samples
US9109256B2 (en) 2004-10-27 2015-08-18 Esoterix Genetic Laboratories, Llc Method for monitoring disease progression or recurrence
US7424371B2 (en) 2004-12-21 2008-09-09 Helicos Biosciences Corporation Nucleic acid analysis
US7393665B2 (en) 2005-02-10 2008-07-01 Population Genetics Technologies Ltd Methods and compositions for tagging and identifying polynucleotides
ITRM20050068A1 (it) 2005-02-17 2006-08-18 Istituto Naz Per Le Malattie I Metodo per la rivelazione di acidi nucleici di agenti patogeni batterici o di parassiti nelle urine.
WO2006099604A2 (en) 2005-03-16 2006-09-21 Compass Genetics, Llc Methods and compositions for assay readouts on multiple analytical platforms
EP1712639B1 (en) 2005-04-06 2008-08-27 Maurice Stroun Method for the diagnosis of cancer by detecting circulating DNA and RNA
CA2615323A1 (en) 2005-06-06 2007-12-21 454 Life Sciences Corporation Paired end sequencing
US20070020640A1 (en) 2005-07-21 2007-01-25 Mccloskey Megan L Molecular encoding of nucleic acid templates for PCR and other forms of sequence analysis
US7666593B2 (en) 2005-08-26 2010-02-23 Helicos Biosciences Corporation Single molecule sequencing of captured nucleic acids
WO2007037678A2 (en) 2005-09-29 2007-04-05 Keygene N.V. High throughput screening of mutagenized populations
US7329860B2 (en) 2005-11-23 2008-02-12 Illumina, Inc. Confocal imaging methods and apparatus
WO2007087312A2 (en) 2006-01-23 2007-08-02 Population Genetics Technologies Ltd. Molecular counting
US20070172839A1 (en) 2006-01-24 2007-07-26 Smith Douglas R Asymmetrical adapters and methods of use thereof
US8383338B2 (en) 2006-04-24 2013-02-26 Roche Nimblegen, Inc. Methods and systems for uniform enrichment of genomic regions
US7702468B2 (en) 2006-05-03 2010-04-20 Population Diagnostics, Inc. Evaluating genetic disorders
CN103424541B (zh) 2006-05-18 2018-01-30 分子压型学会股份有限公司 确定针对病状的个性化医疗介入的系统和方法
US20080090239A1 (en) 2006-06-14 2008-04-17 Daniel Shoemaker Rare cell analysis using sample splitting and dna tags
FR2904833A1 (fr) 2006-08-11 2008-02-15 Bioquanta Sarl Procede de dosage d'acide nuclieque par fluorescence
US7754429B2 (en) 2006-10-06 2010-07-13 Illumina Cambridge Limited Method for pair-wise sequencing a plurity of target polynucleotides
CA2669728C (en) 2006-11-15 2017-04-11 Biospherex Llc Multitag sequencing and ecogenomics analysis
US20110014607A1 (en) 2006-12-06 2011-01-20 Jirtle Randy L Imprinted genes and disease
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
US9090693B2 (en) 2007-01-25 2015-07-28 Dana-Farber Cancer Institute Use of anti-EGFR antibodies in treatment of EGFR mutant mediated disease
EP2126766A2 (en) 2007-01-26 2009-12-02 Illumina Inc. Image data efficient genetic sequencing method and system
RS53265B2 (sr) 2007-03-13 2022-06-30 Amgen Inc K-ras mutacije i terapija anti-egfr antitelom
WO2008148072A2 (en) 2007-05-24 2008-12-04 The Brigham And Women's Hospital, Inc. Disease-associated genetic variations and methods for obtaining and using same
JP2010528608A (ja) 2007-06-01 2010-08-26 454 ライフ サイエンシーズ コーポレイション 複合的な混合物から個々の試料を特定するためのシステムおよび方法
CA2689626C (en) 2007-06-06 2016-10-25 Pacific Biosciences Of California, Inc. Methods and processes for calling bases in sequence by incorporation methods
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
PL2557520T3 (pl) 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Określanie zaburzenia równowagi sekwencji kwasu nukleinowego
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
WO2009033178A1 (en) 2007-09-07 2009-03-12 Fluidigm Corporation Copy number variation determination, methods and systems
JP5643650B2 (ja) 2007-11-21 2014-12-17 コスモシド・インコーポレーテッド ゲノム同定システム
JP2011511644A (ja) 2008-02-12 2011-04-14 ノバルティス アーゲー 無細胞のアポトーシス性核酸または胎児核酸を単離するための方法
US8216789B2 (en) 2008-02-27 2012-07-10 University Of Washington Diagnostic panel of cancer antibodies and methods for use
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
EP4230747A3 (en) 2008-03-28 2023-11-15 Pacific Biosciences Of California, Inc. Compositions and methods for nucleic acid sequencing
US20110160290A1 (en) 2008-05-21 2011-06-30 Muneesh Tewari Use of extracellular rna to measure disease
US20090298709A1 (en) 2008-05-28 2009-12-03 Affymetrix, Inc. Assays for determining telomere length and repeated sequence copy number
DE102008025656B4 (de) 2008-05-28 2016-07-28 Genxpro Gmbh Verfahren zur quantitativen Analyse von Nukleinsäuren, Marker dafür und deren Verwendung
US20100041048A1 (en) 2008-07-31 2010-02-18 The Johns Hopkins University Circulating Mutant DNA to Assess Tumor Dynamics
US20100062494A1 (en) 2008-08-08 2010-03-11 President And Fellows Of Harvard College Enzymatic oligonucleotide pre-adenylation
US20100069250A1 (en) 2008-08-16 2010-03-18 The Board Of Trustees Of The Leland Stanford Junior University Digital PCR Calibration for High Throughput Sequencing
WO2010028288A2 (en) 2008-09-05 2010-03-11 Aueon, Inc. Methods for stratifying and annotating cancer drug treatment options
US8383345B2 (en) 2008-09-12 2013-02-26 University Of Washington Sequence tag directed subassembly of short sequencing reads into long sequencing reads
CA3069082C (en) 2008-09-20 2022-03-22 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US8546128B2 (en) 2008-10-22 2013-10-01 Life Technologies Corporation Fluidics system for sequential delivery of reagents
US20100301398A1 (en) 2009-05-29 2010-12-02 Ion Torrent Systems Incorporated Methods and apparatus for measuring analytes
EP2607496B1 (en) 2008-12-23 2014-07-16 Illumina, Inc. Methods useful in nucleic acid sequencing protocols
US20100323348A1 (en) 2009-01-31 2010-12-23 The Regents Of The University Of Colorado, A Body Corporate Methods and Compositions for Using Error-Detecting and/or Error-Correcting Barcodes in Nucleic Acid Amplification Process
US9085798B2 (en) 2009-04-30 2015-07-21 Prognosys Biosciences, Inc. Nucleic acid constructs and methods of use
US20120165202A1 (en) 2009-04-30 2012-06-28 Good Start Genetics, Inc. Methods and compositions for evaluating genetic markers
US8574835B2 (en) 2009-05-29 2013-11-05 Life Technologies Corporation Scaffolded nucleic acid polymer particles and methods of making and using
US8673627B2 (en) 2009-05-29 2014-03-18 Life Technologies Corporation Apparatus and methods for performing electrochemical reactions
US20130143747A1 (en) 2011-12-05 2013-06-06 Myriad Genetics, Incorporated Methods of detecting cancer
US9524369B2 (en) 2009-06-15 2016-12-20 Complete Genomics, Inc. Processing and analysis of complex nucleic acid sequence data
WO2010151416A1 (en) 2009-06-25 2010-12-29 Fred Hutchinson Cancer Research Center Method of measuring adaptive immunity
WO2011011426A2 (en) 2009-07-20 2011-01-27 Bar Harbor Biotechnology, Inc. Methods for assessing disease risk
AU2010311535B2 (en) 2009-10-26 2015-05-21 Lifecodexx Ag Means and methods for non-invasive diagnosis of chromosomal aneuploidy
CN102597272A (zh) 2009-11-12 2012-07-18 艾索特里克斯遗传实验室有限责任公司 基因座的拷贝数分析
US9023769B2 (en) 2009-11-30 2015-05-05 Complete Genomics, Inc. cDNA library for nucleic acid sequencing
US9752187B2 (en) 2009-12-11 2017-09-05 Nucleix Categorization of DNA samples
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
US9315857B2 (en) 2009-12-15 2016-04-19 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse label-tags
ES2577017T3 (es) 2009-12-22 2016-07-12 Sequenom, Inc. Procedimientos y kits para identificar la aneuploidia
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US20120100548A1 (en) * 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US20110177512A1 (en) 2010-01-19 2011-07-21 Predictive Biosciences, Inc. Method for assuring amplification of an abnormal nucleic acid in a sample
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP2370599B1 (en) 2010-01-19 2015-01-21 Verinata Health, Inc Method for determining copy number variations
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
WO2011103236A2 (en) 2010-02-18 2011-08-25 The Johns Hopkins University Personalized tumor biomarkers
US9140689B2 (en) 2010-03-14 2015-09-22 Translational Genomics Research Institute Methods of determining susceptibility of tumors to tyrosine kinase inhibitors
CN101967517B (zh) 2010-03-19 2012-11-07 黄乐群 一种无需借助pcr的基因检测方法
PL2558854T3 (pl) 2010-04-16 2019-04-30 Chronix Biomedical Biomarkery będące krążącymi kwasami nukleinowymi związanymi z rakiem piersi
US9255291B2 (en) 2010-05-06 2016-02-09 Bioo Scientific Corporation Oligonucleotide ligation methods for improving data quality and throughput using massively parallel sequencing
EP2576837B1 (en) 2010-06-04 2017-09-06 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
US9080210B2 (en) 2010-06-09 2015-07-14 Keygene N.V. High throughput screening using combinatorial sequence barcodes
EP2400035A1 (en) 2010-06-28 2011-12-28 Technische Universität München Methods and compositions for diagnosing gastrointestinal stromal tumors
EP2591433A4 (en) 2010-07-06 2017-05-17 Life Technologies Corporation Systems and methods to detect copy number variation
EP2596132A4 (en) 2010-07-23 2013-12-18 Harvard College METHOD FOR DETECTING SIGNS FOR ILLNESS OR SUFFERING IN BODY FLUIDS
US9079155B2 (en) 2010-07-29 2015-07-14 Toto Ltd. Photocatalyst coated body and photocatalyst coating liquid
WO2012018387A2 (en) 2010-08-02 2012-02-09 Population Diagnotics, Inc. Compositions and methods for discovery of causative mutations in genetic disorders
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
EP3211421A1 (en) 2010-09-09 2017-08-30 Traxxsson, LLC Combination methods of diagnosing cancer in a patient
ES2523140T3 (es) 2010-09-21 2014-11-21 Population Genetics Technologies Ltd. Aumento de la confianza en las identificaciones de alelos con el recuento molecular
WO2012042374A2 (en) 2010-10-01 2012-04-05 Anssi Jussi Nikolai Taipale Method of determining number or concentration of molecules
GB2497912B (en) 2010-10-08 2014-06-04 Harvard College High-throughput single cell barcoding
US8725422B2 (en) 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
CA3210003A1 (en) 2010-10-22 2012-04-26 Cold Spring Harbor Laboratory Varietal counting of nucleic acids for obtaining genomic copy number information
WO2012066451A1 (en) 2010-11-15 2012-05-24 Pfizer Inc. Prognostic and predictive gene signature for colon cancer
CN105243295B (zh) 2010-11-30 2018-08-17 香港中文大学 与癌症相关的遗传或分子畸变的检测
WO2012088348A2 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
US9163281B2 (en) 2010-12-23 2015-10-20 Good Start Genetics, Inc. Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction
KR102759126B1 (ko) 2010-12-30 2025-01-24 파운데이션 메디신 인코포레이티드 종양 샘플의 다유전자 분석의 최적화
US20140011694A1 (en) 2011-01-11 2014-01-09 Via Genomes, Inc. Methods, systems, databases, kits and arrays for screening for and predicting the risk of an identifying the presence of tumors and cancers
US20120190020A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
WO2012106559A1 (en) 2011-02-02 2012-08-09 Translational Genomics Research Institute Biomarkers and methods of use thereof
AU2012214312A1 (en) * 2011-02-09 2013-08-22 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
US20120238464A1 (en) 2011-03-18 2012-09-20 Baylor Research Institute Biomarkers for Predicting the Recurrence of Colorectal Cancer Metastasis
WO2012129363A2 (en) 2011-03-24 2012-09-27 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
AU2012236200B2 (en) 2011-03-30 2015-05-14 Verinata Health, Inc. Method for verifying bioassay samples
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
ES2986436T3 (es) 2011-04-15 2024-11-11 Univ Johns Hopkins Sistema de secuenciación segura
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
EP3395957B1 (en) 2011-04-25 2020-08-12 Bio-Rad Laboratories, Inc. Methods and compositions for nucleic acid analysis
EP2705157B1 (en) 2011-05-06 2017-02-01 New England Biolabs, Inc. Ligation enhancement
SG10201605049QA (en) 2011-05-20 2016-07-28 Fluidigm Corp Nucleic acid encoding reactions
US9752176B2 (en) 2011-06-15 2017-09-05 Ginkgo Bioworks, Inc. Methods for preparative in vitro cloning
KR101454886B1 (ko) 2011-08-01 2014-11-03 주식회사 셀레믹스 핵산분자의 제조방법
US10704164B2 (en) 2011-08-31 2020-07-07 Life Technologies Corporation Methods, systems, computer readable media, and kits for sample identification
WO2013033721A1 (en) 2011-09-02 2013-03-07 Atreca, Inc. Dna barcodes for multiplexed sequencing
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
US20130079241A1 (en) 2011-09-15 2013-03-28 Jianhua Luo Methods for Diagnosing Prostate Cancer and Predicting Prostate Cancer Relapse
WO2013052907A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130102485A1 (en) 2011-10-19 2013-04-25 Inhan Lee Method of Determining a Diseased State in a Subject
EP2768985B1 (en) 2011-10-21 2019-03-20 Chronix Biomedical Colorectal cancer associated circulating nucleic acid biomarkers
NO3051026T3 (enExample) 2011-10-21 2018-07-28
US20130122499A1 (en) 2011-11-14 2013-05-16 Viomics, Inc. System and method of detecting local copy number variation in dna samples
WO2013086352A1 (en) 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
CA2858688A1 (en) 2011-12-08 2013-06-13 Five3 Genomics, Llc Mdm2-containing double minute chromosomes and methods therefore
EP2802666B1 (en) 2012-01-13 2018-09-19 Data2Bio Genotyping by next-generation sequencing
WO2013123442A1 (en) 2012-02-17 2013-08-22 Fred Hutchinson Cancer Research Center Compositions and methods for accurately identifying mutations
EP2820174B1 (en) 2012-02-27 2019-12-25 The University of North Carolina at Chapel Hill Methods and uses for molecular tags
CA2865575C (en) 2012-02-27 2024-01-16 Cellular Research, Inc. Compositions and kits for molecular counting
WO2013128281A1 (en) 2012-02-28 2013-09-06 Population Genetics Technologies Ltd Method for attaching a counter sequence to a nucleic acid sample
WO2013130791A1 (en) 2012-02-29 2013-09-06 Dana-Farber Cancer Institute, Inc. Compositions, kits, and methods for the identification, assessment, prevention, and therapy of cancer
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
WO2013138510A1 (en) 2012-03-13 2013-09-19 Patel Abhijit Ajit Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
PT2828218T (pt) 2012-03-20 2020-11-11 Univ Washington Through Its Center For Commercialization Métodos para baixar a taxa de erro da sequenciação paralela massiva de adn utilizando sequenciação duplex de consensus
WO2013142213A1 (en) 2012-03-20 2013-09-26 Wake Forest University Health Sciences Methods, systems, and computer readable media for tracking and verifying receipt of contents of a delivery within an organization
CA2868836C (en) 2012-03-26 2019-08-06 The Johns Hopkins University Rapid aneuploidy detection
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
CN204440396U (zh) * 2012-04-12 2015-07-01 维里纳塔健康公司 用于确定胎儿分数的试剂盒
EP3741871A3 (en) 2012-04-19 2021-02-17 The Medical College of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free dna
WO2013166517A1 (en) * 2012-05-04 2013-11-07 Complete Genomics, Inc. Methods for determining absolute genome-wide copy number variations of complex tumors
PT2850211T (pt) 2012-05-14 2021-11-29 Irepertoire Inc Método para aumentar a precisão na deteção quantitativa de polinucleótidos
AU2013267609C1 (en) 2012-05-31 2019-01-03 Board Of Regents, The University Of Texas System Method for accurate sequencing of DNA
JP2015519081A (ja) 2012-06-11 2015-07-09 シーケンタ インコーポレイテッド 配列タグを用いた配列決定法
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
WO2014004726A1 (en) 2012-06-26 2014-01-03 Caifu Chen Methods, compositions and kits for the diagnosis, prognosis and monitoring of cancer
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US20140066317A1 (en) 2012-09-04 2014-03-06 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
CN104781421B (zh) 2012-09-04 2020-06-05 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
JP6234463B2 (ja) * 2012-09-10 2017-11-22 ジーンスカイ ダイアグノスティクス(スーツォウ) インコーポレーテッドGenesky Diagnostics (Suzhou) Inc. 核酸の多重分析の方法
CN111254500B (zh) 2012-12-10 2024-01-23 分析生物科学有限公司 靶向基因组分析的方法
US20140337052A1 (en) 2013-01-05 2014-11-13 Foundation Medicine, Inc. System and method for outcome tracking and analysis
CA3150658A1 (en) 2013-01-18 2014-07-24 Foundation Medicine, Inc. Methods of treating cholangiocarcinoma
WO2014152990A1 (en) 2013-03-14 2014-09-25 University Of Rochester System and method for detecting population variation from nucleic acid sequencing data
WO2014151117A1 (en) 2013-03-15 2014-09-25 The Board Of Trustees Of The Leland Stanford Junior University Identification and use of circulating nucleic acid tumor markers
WO2014151511A2 (en) 2013-03-15 2014-09-25 Abbott Molecular Inc. Systems and methods for detection of genomic copy number changes
GB2525568B (en) 2013-03-15 2020-10-14 Abvitro Llc Single cell barcoding for antibody discovery
WO2014145078A1 (en) 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
CN114574581A (zh) 2013-03-15 2022-06-03 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
JP6520705B2 (ja) 2013-03-19 2019-05-29 凸版印刷株式会社 Egfr阻害剤感受性予測方法
US10930368B2 (en) * 2013-04-03 2021-02-23 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
SG11201508985VA (en) 2013-05-23 2015-12-30 Univ Leland Stanford Junior Transposition into native chromatin for personal epigenomics
JP2015096049A (ja) 2013-11-15 2015-05-21 凸版印刷株式会社 Vegf阻害剤長期奏功性予測方法
ES2660989T3 (es) 2013-12-28 2018-03-27 Guardant Health, Inc. Métodos y sistemas para detectar variantes genéticas
WO2015159292A2 (en) 2014-04-14 2015-10-22 Yissum Research Development Company Of The Hebrew University Of Jerusalem Ltd. A method and kit for determining the tissue or cell origin of dna
ES2844229T3 (es) 2014-05-13 2021-07-21 Univ Texas Mutaciones génicas y alteraciones en el número de copias de EGFR, KRAS y MET
EP3690061B1 (en) * 2014-05-30 2025-01-01 Verinata Health, Inc. Detecting, optionally fetal, sub-chromosomal aneuploidies and copy number variations
CN105296606B (zh) 2014-07-25 2019-08-09 深圳华大基因股份有限公司 确定生物样本中游离核酸比例的方法、装置及其用途
EP4358097A1 (en) 2014-07-25 2024-04-24 University of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
EP3192047A4 (en) 2014-09-10 2018-03-28 Pathway Genomics Corporation Health and wellness management methods and systems useful for the practice thereof
CN107075730A (zh) 2014-09-12 2017-08-18 利兰·斯坦福青年大学托管委员会 循环核酸的鉴定及用途
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
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
HUE058263T2 (hu) 2015-02-10 2022-07-28 Univ Hong Kong Chinese Mutációk detektálása rákszûrési és magzatelemzési célból
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
CA3006792A1 (en) 2015-12-08 2017-06-15 Twinstrand Biosciences, Inc. Improved adapters, methods, and compositions for duplex sequencing
ES3002715T3 (en) 2016-04-14 2025-03-07 Guardant Health Inc Methods for early detection of cancer

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