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)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (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

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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 (https=)
EP (1) EP3390668A4 (https=)
JP (3) JP2019507585A (https=)
CN (2) CN117174167A (https=)
CA (1) CA3008651A1 (https=)
SG (1) SG11201805119QA (https=)
WO (1) WO2017106768A1 (https=)

Families Citing this family (38)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2625288T3 (es) 2011-04-15 2017-07-19 The Johns Hopkins University 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
AU2013338393C1 (en) 2012-10-29 2024-07-25 The Johns Hopkins University Papanicolaou test for ovarian and endometrial cancers
WO2016109452A1 (en) 2014-12-31 2016-07-07 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
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
JP6560465B1 (ja) 2016-09-30 2019-08-21 ガーダント ヘルス, インコーポレイテッド 無細胞核酸の多重解像度分析のための方法
EP3559841B1 (en) * 2016-12-22 2025-08-06 Grail, Inc. Base coverage normalization and use thereof in detecting copy number variation
IL319255A (en) 2017-08-07 2025-04-01 Univ Johns Hopkins Methods and materials for cancer assessment and treatment
US20210125683A1 (en) * 2017-09-15 2021-04-29 The Regents Of The University Of California Detecting somatic single nucleotide variants from cell-free nucleic acid with application to minimal residual disease monitoring
CN119753091A (zh) 2018-04-02 2025-04-04 格里尔公司 用于扩增与癌症相关联的cfDNA分子的化验板
CN112888459B (zh) 2018-06-01 2023-05-23 格里尔公司 卷积神经网络系统及数据分类方法
IL281741B2 (en) 2018-09-27 2026-04-01 Grail Inc Methylation markers and a targeted methylation detection panel
EP4524263A3 (en) * 2018-10-31 2025-05-28 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
EP4567131A3 (en) 2019-01-31 2025-09-03 Guardant Health, Inc. Compositions and methods for isolating cell-free dna
US11929148B2 (en) * 2019-03-13 2024-03-12 Grail, Llc 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
JP2023513606A (ja) 2020-02-14 2023-03-31 ザ・ジョンズ・ホプキンス・ユニバーシティー 核酸を評価するための方法および材料
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
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
AU2021227920A1 (en) * 2020-02-28 2022-09-08 Grail, Llc Systems and methods for calling variants using methylation sequencing data
EP4407042A3 (en) 2020-07-10 2024-09-18 Guardant Health, Inc. Methods of detecting genomic rearrangements using cell free nucleic acids
WO2023282916A1 (en) 2021-07-09 2023-01-12 Guardant Health, Inc. Methods of detecting genomic rearrangements using cell free nucleic acids
JP2023540221A (ja) 2020-08-25 2023-09-22 ガーダント ヘルス, インコーポレイテッド バリアントの起源を予測するための方法およびシステム
JP2024512372A (ja) 2021-03-09 2024-03-19 ガーダント ヘルス, インコーポレイテッド オフターゲットポリヌクレオチド配列決定データに基づく腫瘍の存在の検出
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
EP4705522A1 (en) 2023-05-05 2026-03-11 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
US5424186A (en) 1989-06-07 1995-06-13 Affymax Technologies N.V. Very large scale immobilized polymer synthesis
US5744101A (en) 1989-06-07 1998-04-28 Affymax Technologies N.V. Photolabile nucleoside protecting groups
US5925525A (en) 1989-06-07 1999-07-20 Affymetrix, Inc. Method of identifying nucleotide differences
US5800992A (en) 1989-06-07 1998-09-01 Fodor; Stephen P.A. Method of detecting nucleic acids
US6551784B2 (en) 1989-06-07 2003-04-22 Affymetrix Inc Method of comparing 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
US6309822B1 (en) 1989-06-07 2001-10-30 Affymetrix, Inc. Method for comparing copy number of nucleic acid sequences
US6040138A (en) 1995-09-15 2000-03-21 Affymetrix, Inc. Expression monitoring by hybridization to high density oligonucleotide arrays
US5871928A (en) 1989-06-07 1999-02-16 Fodor; Stephen P. A. Methods for nucleic acid analysis
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
DE69132905T2 (de) 1990-12-06 2002-08-01 Affymetrix, Inc. (N.D.Ges.D.Staates Delaware) Detektion von Nukleinsäuresequenzen
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
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
US5604097A (en) 1994-10-13 1997-02-18 Spectragen, Inc. Methods for sorting polynucleotides using oligonucleotide tags
US6600996B2 (en) 1994-10-21 2003-07-29 Affymetrix, Inc. Computer-aided techniques for analyzing biological sequences
EP0709466B1 (en) 1994-10-28 2006-09-27 Gen-Probe Incorporated Compositions and methods for the simultaneous detection and quantification of multiple specific nucleic acid sequences
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
ATE471150T1 (de) 1996-03-26 2010-07-15 Kopreski Michael S 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
WO1998015644A2 (en) 1996-09-27 1998-04-16 The Chinese University Of Hong Kong Parallel polynucleotide sequencing method
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
EP0985142A4 (en) 1997-05-23 2006-09-13 Lynx Therapeutics Inc SYSTEM AND APPARATUS FOR THE SEQUENTIAL TREATMENT OF ANALYTES
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
US6653077B1 (en) 1998-09-04 2003-11-25 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
US6573053B1 (en) 1999-02-05 2003-06-03 Amersham Biosciences Uk Limited Analysis method
US6629040B1 (en) 1999-03-19 2003-09-30 University Of Washington Isotope distribution encoded tags for protein identification
EP1165839A2 (en) 1999-03-26 2002-01-02 Whitehead Institute For Biomedical Research Universal arrays
CA2366778C (en) 1999-04-09 2008-07-22 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
CA2304260C (en) 1999-04-20 2009-03-24 Japan Bioindustry Association Method for determining a concentration of target nucleic acid molecules, nucleic acid probes for the method 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
WO2001023610A2 (en) 1999-09-29 2001-04-05 Solexa Ltd. Polynucleotide sequencing
WO2001042781A2 (en) 1999-12-07 2001-06-14 Exact Sciences Corporation 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
EP1990428B1 (en) 2000-02-07 2010-12-22 Illumina, Inc. Nucleic acid detection methods using universal priming
US20020072058A1 (en) 2000-03-24 2002-06-13 Voelker Leroy L. Method for 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
CA2344599C (en) 2001-05-07 2011-07-12 Bioneer Corporation Selective polymerase chain reaction of dna of which base sequence is completely unknown
US7406385B2 (en) 2001-10-25 2008-07-29 Applera Corporation System and method for consensus-calling with per-base quality values for sample assemblies
EP1342794B1 (en) 2002-03-05 2005-12-14 Epigenomics AG Method and device for determination of tissue specificity of free floating DNA in bodily fluids
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
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
CA2505472A1 (en) 2002-11-11 2004-05-27 Affymetrix, Inc. Methods for identifying dna copy number changes
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
US20040259118A1 (en) 2003-06-23 2004-12-23 Macevicz Stephen C. Methods and compositions for nucleic acid sequence analysis
EP1641809B2 (en) 2003-07-05 2018-10-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
DE60328193D1 (de) 2003-10-16 2009-08-13 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
WO2005042781A2 (en) 2003-10-31 2005-05-12 Agencourt Personal Genomics Corporation Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof
JP2007524410A (ja) 2004-01-23 2007-08-30 リングヴィテ エーエス ポリヌクレオチドライゲーション反応の改良
DE602005018166D1 (de) 2004-02-12 2010-01-21 Population Genetics Technologi Genetische analyse mittels sequenzspezifischem sortieren
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
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
WO2006047787A2 (en) 2004-10-27 2006-05-04 Exact Sciences Corporation 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
EP1861512A4 (en) 2005-03-18 2009-12-09 Fluidigm Corp THERMAL REACTION DEVICE AND USE METHOD THEREFOR
EP1712639B1 (en) 2005-04-06 2008-08-27 Maurice Stroun Method for the diagnosis of cancer by detecting circulating DNA and RNA
US7601499B2 (en) 2005-06-06 2009-10-13 454 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
US20090170713A1 (en) 2005-09-29 2009-07-02 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
US8603749B2 (en) 2006-11-15 2013-12-10 Biospherex, LLC Multitag sequencing ecogenomics analysis-US
WO2008070144A2 (en) 2006-12-06 2008-06-12 Duke University 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
US7835871B2 (en) 2007-01-26 2010-11-16 Illumina, Inc. Nucleic acid sequencing system and method
AR065687A1 (es) 2007-03-13 2009-06-24 Amgen Inc Metodo para determinar la presencia o no de una mutacion k-ras y terapia con anticuerpos anti-egfr
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
EP2164985A4 (en) 2007-06-01 2014-05-14 454 Life Sciences Corp SYSTEM AND METHOD FOR IDENTIFYING INDIVIDUAL SAMPLES FROM A MULTIPLEX MIXTURE
US8182993B2 (en) 2007-06-06 2012-05-22 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
LT2557517T (lt) 2007-07-23 2023-01-10 The Chinese University Of Hong Kong Nukleino rūgščių sekos disbalanso nustatymas
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
CA2698545C (en) 2007-09-07 2014-07-08 Fluidigm Corporation Copy number variation determination, methods and systems
WO2009085473A2 (en) 2007-11-21 2009-07-09 Cosmosid Inc. Genome identification system
WO2009102632A2 (en) 2008-02-12 2009-08-20 Biocept, Inc. Method for isolating cell free apoptotic or fetal nucleic acids
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
MX2010010600A (es) 2008-03-28 2011-03-30 Pacific Biosciences California Inc Composiciones y metodos para secuenciacion de acidos nucleicos.
US20110160290A1 (en) 2008-05-21 2011-06-30 Muneesh Tewari Use of extracellular rna to measure disease
DE102008025656B4 (de) 2008-05-28 2016-07-28 Genxpro Gmbh Verfahren zur quantitativen Analyse von Nukleinsäuren, Marker dafür und deren Verwendung
US20090298709A1 (en) 2008-05-28 2009-12-03 Affymetrix, Inc. Assays for determining telomere length and repeated sequence copy number
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
WO2010021936A1 (en) 2008-08-16 2010-02-25 The Board Of Trustees Of The Leland Stanford Junior University Digital pcr calibration for high throughput sequencing
US8583380B2 (en) 2008-09-05 2013-11-12 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
HUE031848T2 (en) 2008-09-20 2017-08-28 Univ Leland Stanford Junior Non-invasive diagnosis of fetal aneuploidy by sequencing
US20100301398A1 (en) 2009-05-29 2010-12-02 Ion Torrent Systems Incorporated Methods and apparatus for measuring analytes
US8546128B2 (en) 2008-10-22 2013-10-01 Life Technologies Corporation Fluidics system for sequential delivery of reagents
WO2010075188A2 (en) 2008-12-23 2010-07-01 Illumina Inc. Multibase delivery for long reads in sequencing by synthesis 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
US20120165202A1 (en) 2009-04-30 2012-06-28 Good Start Genetics, Inc. Methods and compositions for evaluating genetic markers
WO2010127186A1 (en) 2009-04-30 2010-11-04 Prognosys Biosciences, Inc. Nucleic acid constructs and methods of use
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
CN102459643B (zh) 2009-06-25 2016-06-01 弗雷德哈钦森癌症研究中心 检测获得性免疫的方法
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
US9361426B2 (en) 2009-11-12 2016-06-07 Esoterix Genetic Laboratories, Llc Copy number analysis of genetic locus
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
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
EP3088532B1 (en) 2009-12-22 2019-10-30 Sequenom, Inc. Processes and kits for identifying aneuploidy
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
CA2786564A1 (en) 2010-01-19 2011-07-28 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
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
WO2011103236A2 (en) 2010-02-18 2011-08-25 The Johns Hopkins University Personalized tumor biomarkers
WO2011115937A1 (en) 2010-03-14 2011-09-22 The 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
US10047397B2 (en) 2010-04-16 2018-08-14 Chronix Biomedical Breast cancer associated circulating nucleic acid biomarkers
WO2011140510A2 (en) 2010-05-06 2011-11-10 Bioo Scientific Corporation Oligonucleotide ligation, barcoding and methods and compositions for improving data quality and throughput using massively parallel sequencing
CA2801468C (en) 2010-06-04 2018-09-04 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
DK3425062T3 (da) 2010-06-09 2023-09-04 Keygene Nv Stregkoder med kombinatorisk sekvens til høj gennemløbsscreening
EP2400035A1 (en) 2010-06-28 2011-12-28 Technische Universität München Methods and compositions for diagnosing gastrointestinal stromal tumors
WO2012006291A2 (en) 2010-07-06 2012-01-12 Life Technologies Corporation Systems and methods to detect copy number variation
WO2012012693A2 (en) 2010-07-23 2012-01-26 President And Fellows Of Harvard College Methods for detecting signatures of disease or conditions in bodily fluids
EP2599545B1 (en) 2010-07-29 2019-09-04 Toto Ltd. Photocatalyst coated body and photocatalyst coating liquid
CN103392182B (zh) 2010-08-02 2017-07-04 众有生物有限公司 用于发现遗传疾病中致病突变的系统和方法
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
AU2011299088B2 (en) 2010-09-09 2015-12-24 Traxxsson, Llc Combination methods of diagnosing cancer in a patient
CA2811185C (en) 2010-09-21 2020-09-22 Population Genetics Technologies Ltd. Increasing confidence of allele calls with molecular counting
WO2012042374A2 (en) 2010-10-01 2012-04-05 Anssi Jussi Nikolai Taipale Method of determining number or concentration of molecules
EP2625320B1 (en) 2010-10-08 2019-03-27 President and Fellows of 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
CA3080686C (en) 2010-10-22 2023-10-10 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
MX349568B (es) 2010-11-30 2017-08-03 Univ Hong Kong Chinese Deteccion de aberraciones geneticas o moleculares asociadas con el cancer.
CA2822439A1 (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
KR20190002733A (ko) 2010-12-30 2019-01-08 파운데이션 메디신 인코포레이티드 종양 샘플의 다유전자 분석의 최적화
WO2012097053A1 (en) 2011-01-11 2012-07-19 Via Genomes, Inc. Methods, systems, databases, kits and arrays for screening for and predicting the risk of and identifying the presence of tumors and cancers
WO2012103031A2 (en) 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US20140024539A1 (en) 2011-02-02 2014-01-23 Translational Genomics Research Institute Biomarkers and methods of use thereof
AU2011358564B9 (en) 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
AU2012214312A1 (en) * 2011-02-09 2013-08-22 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
US20120238464A1 (en) 2011-03-18 2012-09-20 Baylor Research Institute Biomarkers for Predicting the Recurrence of Colorectal Cancer Metastasis
US9260753B2 (en) 2011-03-24 2016-02-16 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
ES2625288T3 (es) 2011-04-15 2017-07-19 The Johns Hopkins University Sistema de secuenciación segura
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US9347059B2 (en) 2011-04-25 2016-05-24 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
US9834766B2 (en) 2011-09-02 2017-12-05 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
US9367663B2 (en) 2011-10-06 2016-06-14 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
CA2850785C (en) 2011-10-06 2022-12-13 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
CA2852098C (en) 2011-10-21 2023-05-02 Chronix Biomedical Colorectal cancer associated circulating nucleic acid biomarkers
NO3051026T3 (https=) 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
US10214775B2 (en) 2011-12-07 2019-02-26 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
AU2012347522B2 (en) 2011-12-08 2015-07-30 Five3 Genomics, Llc MDM2-containing double minute chromosomes and methods therefore
US20130184165A1 (en) 2012-01-13 2013-07-18 Data2Bio Genotyping by next-generation sequencing
DK2814959T3 (en) 2012-02-17 2018-04-23 Hutchinson Fred Cancer Res COMPOSITIONS AND PROCEDURES FOR EXACTLY IDENTIFYING MUTATIONS
EP2820174B1 (en) 2012-02-27 2019-12-25 The University of North Carolina at Chapel Hill Methods and uses for molecular tags
US10941396B2 (en) 2012-02-27 2021-03-09 Becton, Dickinson And Company Compositions and kits for molecular counting
US9670529B2 (en) 2012-02-28 2017-06-06 Population Genetics Technologies Ltd. Method for attaching a counter sequence to a nucleic acid sample
US9890429B2 (en) 2012-02-29 2018-02-13 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
US9862995B2 (en) 2012-03-13 2018-01-09 Abhijit Ajit Patel Measurement of nucleic acid variants using highly-multiplexed error-suppressed deep sequencing
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
EP3744857A1 (en) 2012-03-20 2020-12-02 University Of Washington Through Its Center For Commercialization Methods of lowering the error rate of massively parallel dna sequencing using duplex consensus sequencing
US10053729B2 (en) 2012-03-26 2018-08-21 The Johns Hopkins University Rapid aneuploidy detection
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
CN103374518B (zh) * 2012-04-12 2018-03-27 维里纳塔健康公司 拷贝数变异的检测和分类
AU2013249012B2 (en) 2012-04-19 2019-03-28 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
WO2013173394A2 (en) 2012-05-14 2013-11-21 Cb Biotechnologies, Inc. Method for increasing accuracy in quantitative detection of polynucleotides
AU2013267609C1 (en) 2012-05-31 2019-01-03 Board Of Regents, The University Of Texas System Method for accurate sequencing of DNA
SG11201407888RA (en) 2012-06-11 2014-12-30 Sequenta Inc Method of sequence determination using sequence tags
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
CA2878246C (en) 2012-07-20 2022-01-11 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
US20140066317A1 (en) * 2012-09-04 2014-03-06 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
GB2533006B (en) 2012-09-04 2017-06-07 Guardant Health Inc Systems and methods to detect copy number variation
US10059983B2 (en) * 2012-09-10 2018-08-28 Genesky Diagnostics (Suzhou) Inc. Multiplex nucleic acid analysis
EP4293125A3 (en) 2012-12-10 2024-02-28 Resolution Bioscience, Inc. Methods for targeted genomic analysis
US20140336943A1 (en) 2013-01-05 2014-11-13 Foundation Medicine, Inc. System and method for managing genomic testing results
EP2945652B1 (en) 2013-01-18 2021-07-07 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
GB2528205B (en) 2013-03-15 2020-06-03 Guardant Health Inc Systems and methods to detect rare mutations and copy number variation
CA2905410A1 (en) 2013-03-15 2014-09-25 Abbott Molecular Inc. Systems and methods for detection of genomic copy number changes
US10017807B2 (en) 2013-03-15 2018-07-10 Verinata Health, Inc. Generating cell-free DNA libraries directly from blood
US10119134B2 (en) 2013-03-15 2018-11-06 Abvitro Llc Single cell bar-coding for antibody discovery
CN113337604A (zh) 2013-03-15 2021-09-03 莱兰斯坦福初级大学评议会 循环核酸肿瘤标志物的鉴别和用途
EP2977464A4 (en) 2013-03-19 2016-10-19 Toppan Printing Co Ltd PROCEDURE FOR PREDICTING SENSITIVITY TO EGFR HEMMER
PL2981921T3 (pl) * 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
EP4321628B1 (en) 2013-05-23 2025-09-03 The Board of Trustees of the Leland Stanford Junior University 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
EP3132055A2 (en) 2014-04-14 2017-02-22 Yissum Research and Development Company of the Hebrew University of Jerusalem Ltd. A method and kit for determining the tissue or cell origin of dna
EP3805404A1 (en) 2014-05-13 2021-04-14 Board of Regents, The University of Texas System Gene mutations and copy number alterations of egfr, kras and met
CA2950596C (en) * 2014-05-30 2023-10-31 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
HRP20220045T1 (hr) 2014-07-25 2022-04-15 Bgi Genomics Co., Limited Postupak za određivanje frakcije slobodnih fetalnih nukleinskih kiselina u uzorku periferne krvi trudnice i njihova uporaba
CN107002122B (zh) 2014-07-25 2023-09-19 华盛顿大学 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
US10733903B2 (en) 2014-09-10 2020-08-04 Pathway Genomics Corporation Health and wellness management methods and systems useful for the practice thereof
EP3191628B1 (en) 2014-09-12 2022-05-25 The Board of Trustees of the Leland Stanford Junior University Identification and use of circulating nucleic acids
EP3502273B1 (en) 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
WO2016109452A1 (en) 2014-12-31 2016-07-07 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
EP3256605B1 (en) 2015-02-10 2022-02-09 The Chinese University Of Hong Kong Detecting mutations for cancer screening and fetal analysis
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
PL3387152T3 (pl) 2015-12-08 2022-05-09 Twinstrand Biosciences, Inc. Ulepszone adaptory, sposoby i kompozycje do sekwencjonowania dupleksowego
EP4488686A3 (en) 2016-04-14 2025-04-30 Guardant Health, Inc. Methods for early detection of cancer

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