JP6966052B2 - 稀な配列変異体を検出するための組成物および方法 - Google Patents

稀な配列変異体を検出するための組成物および方法 Download PDF

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JP6966052B2
JP6966052B2 JP2019508937A JP2019508937A JP6966052B2 JP 6966052 B2 JP6966052 B2 JP 6966052B2 JP 2019508937 A JP2019508937 A JP 2019508937A JP 2019508937 A JP2019508937 A JP 2019508937A JP 6966052 B2 JP6966052 B2 JP 6966052B2
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polynucleotide
polynucleotides
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JP2019531710A5 (enExample
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サン，ザオフイ
ウェン，リ
リン，シェンロン
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アキュラーゲン ホールディングス リミテッド
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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    • C12Q1/6869—Methods for sequencing
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    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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    • C12P19/00—Preparation of compounds containing saccharide radicals
    • C12P19/26—Preparation of nitrogen-containing carbohydrates
    • C12P19/28—N-glycosides
    • C12P19/30—Nucleotides
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
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    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6858—Allele-specific amplification

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JP2019508937A 2016-08-15 2017-08-15 稀な配列変異体を検出するための組成物および方法 Active JP6966052B2 (ja)

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JP2021166929A JP7365382B2 (ja) 2016-08-15 2021-10-11 稀な配列変異体を検出するための組成物および方法
JP2023172298A JP2024012298A (ja) 2016-08-15 2023-10-03 稀な配列変異体を検出するための組成物および方法
JP2025201047A JP2026048677A (ja) 2016-08-15 2025-11-20 稀な配列変異体を検出するための組成物および方法

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US201662375396P 2016-08-15 2016-08-15
US62/375,396 2016-08-15
PCT/US2017/047029 WO2018035170A1 (en) 2016-08-15 2017-08-15 Compositions and methods for detecting rare sequence variants

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JP2023172298A Pending JP2024012298A (ja) 2016-08-15 2023-10-03 稀な配列変異体を検出するための組成物および方法
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Families Citing this family (38)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11286519B2 (en) 2013-12-11 2022-03-29 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
US11859246B2 (en) 2013-12-11 2024-01-02 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
IL274464B2 (en) * 2013-12-11 2023-08-01 Accuragen Holdings Ltd Preparations and methods for the detection of rare sequence variants
CN114807323A (zh) 2015-10-09 2022-07-29 安可济控股有限公司 用于富集扩增产物的方法及组合物
EP3383994A4 (en) 2015-12-03 2019-08-28 Accuragen Holdings Limited METHOD AND COMPOSITIONS FOR FORMING LIGATION PRODUCTS
CA3024630A1 (en) 2016-05-16 2017-11-23 Accuragen Holdings Limited Method of improved sequencing by strand identification
WO2018035170A1 (en) 2016-08-15 2018-02-22 Accuragen Holdings Limited Compositions and methods for detecting rare sequence variants
US11203782B2 (en) 2018-03-29 2021-12-21 Accuragen Holdings Limited Compositions and methods comprising asymmetric barcoding
EP4353836B1 (en) * 2018-04-27 2025-08-20 Kao Corporation Highly accurate sequencing method
CN112601823A (zh) 2018-06-12 2021-04-02 安可济控股有限公司 用于形成连接产物的方法和组合物
CN112654713A (zh) * 2018-07-05 2021-04-13 安可济控股有限公司 用于数字聚合酶链反应的组合物和方法
KR102321902B1 (ko) * 2019-01-11 2021-11-05 주식회사 진캐스트 Braf 돌연변이 검출을 위한 dna 중합효소 및 이를 포함하는 키트
EP3976823A4 (en) * 2019-05-28 2023-07-12 Quest Diagnostics Investments LLC SYSTEMS AND METHODS FOR IDENTIFICATION OF MUTATIONS IN MITOCHONDRIAL GENOMES
EP3990548A4 (en) * 2019-06-25 2023-07-26 AccuraGen Holdings Limited DISEASE DETECTION METHODS AND SYSTEMS
CN114514328A (zh) * 2019-08-21 2022-05-17 生命技术公司 用于测序的系统和方法
EP3828283A1 (en) * 2019-11-28 2021-06-02 Diagenode S.A. An improved sequencing method and kit
US11788137B2 (en) 2019-09-30 2023-10-17 Diagenode S.A. Diagnostic and/or sequencing method and kit
KR102468839B1 (ko) 2020-06-03 2022-11-18 주식회사 제노헬릭스 Rna 검출 방법
WO2022040147A1 (en) * 2020-08-19 2022-02-24 Accuragen Holdings Limited Methods for selective cell-free nucleic acid analysis
US12371743B2 (en) 2022-03-04 2025-07-29 Element Biosciences, Inc. Double-stranded splint adaptors and methods of use
US12505571B2 (en) 2020-08-31 2025-12-23 Element Biosciences, Inc. Primary analysis in next generation sequencing
US12469162B2 (en) 2020-08-31 2025-11-11 Element Biosciences, Inc. Primary analysis in next generation sequencing
US12359193B2 (en) 2022-03-04 2025-07-15 Element Biosciences, Inc. Single-stranded splint strands and methods of use
CN117280042A (zh) * 2020-11-17 2023-12-22 环球生物科技再生医疗集团有限公司 用于检测靶向基因变异和病毒基因组的系统及其制备和使用方法
GB202018503D0 (en) * 2020-11-25 2021-01-06 Olink Proteomics Ab Analyte detection method employing concatamers
JP2024501637A (ja) * 2020-12-18 2024-01-15 グレイル エルエルシー 塩基配列決定用の核酸サンプルの調製
EP4047100A1 (en) * 2021-02-18 2022-08-24 Miltenyi Biotec B.V. & Co. KG Ngs targeted dna panel using multiplex selective rca
WO2022194612A1 (en) * 2021-03-16 2022-09-22 Miltenyi Biotec B.V. & Co. KG Method to use dna nanoballs generated by rca using oligonucleotide based dna origami to create high density flowcell for sequencing
EP4314325A4 (en) * 2021-03-31 2025-03-05 Jumpcode Genomics, Inc. Methods for targeted nucleic acid sequencing
US20250095775A1 (en) * 2021-07-23 2025-03-20 Foundation Medicine, Inc. Methods for determining variant frequency and monitoring disease progression
EP4532753A4 (en) * 2022-05-24 2026-05-06 Accuragen Holdings Ltd Compositions and methods for detecting rare sequence variants
EP4551718B1 (en) 2022-07-05 2026-06-24 Element Biosciences, Inc. Pcr-free library preparation using double-stranded splint adaptors and methods of use
EP4587566A1 (en) 2022-09-12 2025-07-23 Element Biosciences, Inc. Double-stranded splint adaptors with universal long splint strands and methods of use
NL2036501B1 (en) * 2023-12-12 2025-06-20 Cyclomics B V Method for sequencing nucleic acid molecules and related methods.
WO2025127927A1 (en) * 2023-12-12 2025-06-19 Cyclomics B.V. Method for sequencing nucleic acid molecules and related methods
WO2025143218A1 (ja) * 2023-12-28 2025-07-03 デンカ株式会社 変異の解析において使用する較正用基準物質としてのゲノムｄｎａを製造する方法、並びに、ゲノムｄｎａ、細胞、及び標的配列の変異を解析する方法
WO2025177174A1 (en) 2024-02-20 2025-08-28 Diagenode S.A. Single-cell rna profiling
CN121294398B (zh) * 2025-12-11 2026-02-17 合肥工业大学 一种水相酯化脂肪酶突变体及构建方法和应用

Family Cites Families (161)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US1015598A (en) 1908-04-25 1912-01-23 Carborundum Co Light-refracting material.
US5310652A (en) 1986-08-22 1994-05-10 Hoffman-La Roche Inc. Reverse transcription with thermostable DNA polymerase-high temperature reverse transcription
US5322770A (en) 1989-12-22 1994-06-21 Hoffman-Laroche Inc. Reverse transcription with thermostable DNA polymerases - high temperature reverse transcription
US5130238A (en) 1988-06-24 1992-07-14 Cangene Corporation Enhanced nucleic acid amplification process
US5234809A (en) 1989-03-23 1993-08-10 Akzo N.V. Process for isolating nucleic acid
EP0390323B2 (en) 1989-03-29 2012-08-08 Johns Hopkins University Detection of loss of the wild-type p53 gene
US5362623A (en) 1991-06-14 1994-11-08 The John Hopkins University Sequence specific DNA binding by p53
US5527676A (en) 1989-03-29 1996-06-18 The Johns Hopkins University Detection of loss of the wild-type P53 gene and kits therefor
US6677312B1 (en) 1989-03-29 2004-01-13 The Johns Hopkins University Methods for restoring wild-type p53 gene function
US6800617B1 (en) 1989-03-29 2004-10-05 The Johns Hopkins University Methods for restoring wild-type p53 gene function
CA2020958C (en) 1989-07-11 2005-01-11 Daniel L. Kacian Nucleic acid sequence amplification methods
WO1991001384A1 (en) 1989-07-11 1991-02-07 Gen-Probe, Incorporated Nucleic acid sequence amplification methods utilizing a transcription complex
US5494810A (en) 1990-05-03 1996-02-27 Cornell Research Foundation, Inc. Thermostable ligase-mediated DNA amplifications system for the detection of genetic disease
US5527670A (en) 1990-09-12 1996-06-18 Scientific Generics Limited Electrochemical denaturation of double-stranded nucleic acid
US5352775A (en) 1991-01-16 1994-10-04 The Johns Hopkins Univ. APC gene and nucleic acid probes derived therefrom
ATE199746T1 (de) 1991-01-16 2001-03-15 Univ Johns Hopkins Geerbte und somatische mutationen des apc-gens bei menschlichem colorectal-krebs
US5455166A (en) 1991-01-31 1995-10-03 Becton, Dickinson And Company Strand displacement amplification
US5330892A (en) 1991-03-13 1994-07-19 The Johns Hopkins University MCC gene (mutated in colorectal cancer) used for diagnosis of cancer in humans
US5270184A (en) 1991-11-19 1993-12-14 Becton, Dickinson And Company Nucleic acid target generation
US7326778B1 (en) 1993-05-05 2008-02-05 The John Hopkins University Mutator gene and hereditary non-polyposis colorectal cancer
US5492808A (en) 1993-05-05 1996-02-20 The Johns Hopkins University Means for detecting familial colon cancer (FCC)
US5591826A (en) 1993-05-05 1997-01-07 The Johns Hopkins University Human MSH2 protein
JPH08511425A (ja) 1993-06-09 1996-12-03 ガメラ バイオサイエンス コーポレイション 磁気サイクル反応
WO1995013375A1 (en) 1993-11-10 1995-05-18 The Johns Hopkins University Tumor suppressor waf1
DE69433940T2 (de) 1993-12-02 2005-07-28 The Johns Hopkins University Menschliches mutator-gen nmsh2 und seine verbindung zum hereditaren, nichtpolypösen kolorrektalen karzinom
US6482606B1 (en) 1994-01-27 2002-11-19 Human Genome Sciences, Inc. Human DNA mismatch repair polynucleotides
US6380369B1 (en) 1994-01-27 2002-04-30 Human Genome Sciences, Inc. Human DNA mismatch repair proteins
NZ281023A (en) 1994-01-27 1998-04-27 Human Genome Sciences Inc Human dna mismatch repair proteins and coding sequences
WO1995025177A1 (en) 1994-03-15 1995-09-21 Scientific Generics Limited Electrochemical denaturation of double-stranded nucleic acid
US5648211A (en) 1994-04-18 1997-07-15 Becton, Dickinson And Company Strand displacement amplification using thermophilic enzymes
US5942391A (en) 1994-06-22 1999-08-24 Mount Sinai School Of Medicine Nucleic acid amplification method: ramification-extension amplification method (RAM)
US6593086B2 (en) 1996-05-20 2003-07-15 Mount Sinai School Of Medicine Of New York University Nucleic acid amplification methods
US5705628A (en) 1994-09-20 1998-01-06 Whitehead Institute For Biomedical Research DNA purification and isolation using magnetic particles
US5648245A (en) 1995-05-09 1997-07-15 Carnegie Institution Of Washington Method for constructing an oligonucleotide concatamer library by rolling circle replication
US5710029A (en) 1995-06-07 1998-01-20 Gen-Probe Incorporated Methods for determining pre-amplification levels of a nucleic acid target sequence from post-amplification levels of product
US5705365A (en) 1995-06-07 1998-01-06 Gen-Probe Incorporated Kits for determining pre-amplification levels of a nucleic acid target sequence from post-amplification levels of product
DK0862656T3 (da) 1995-11-21 2001-04-09 Univ Yale Unimolekylær segmentamplifikation og -detektering
US5854033A (en) 1995-11-21 1998-12-29 Yale University Rolling circle replication reporter systems
EP0929694A4 (en) 1996-03-15 2002-05-02 Penn State Res Found DETECTION OF TUMOR-RELATED EXTRACELLULAR NUCLEIC ACID USING PLASMA OR BLOOD SERUM USING NUCLEIC ACID AMPLIFICATION TESTS
US8048629B2 (en) 1996-03-15 2011-11-01 The Penn State Research Foundation Detection of extracellular tumor-associated nucleic acid in blood plasma or serum
US6511805B1 (en) 1996-03-15 2003-01-28 The Penn State Research Foundation Methods for detecting papillomavirus DNA in blood plasma and serum
CA2250118C (en) 1996-03-26 2009-09-29 Michael S. Kopreski Method enabling use of extracellular rna extracted from plasma or serum to detect, monitor or evaluate cancer
US5939291A (en) 1996-06-14 1999-08-17 Sarnoff Corporation Microfluidic method for nucleic acid amplification
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
EP2327797B1 (en) 1997-04-01 2015-11-25 Illumina Cambridge Limited Method of nucleic acid sequencing
GB9706654D0 (en) 1997-04-02 1997-05-21 Scient Generics Ltd Disassociation of interacting molecules
CA2256563A1 (en) 1997-04-04 1998-10-15 Innogenetics N.V. Isothermal polymerase chain reaction by cycling the concentration of divalent metal ions
WO1999053102A1 (en) 1998-04-16 1999-10-21 Packard Bioscience Company Analysis of polynucleotide sequence
EP1020534B2 (en) 1998-11-09 2011-01-05 Eiken Kagaku Kabushiki Kaisha Process for synthesizing nucleic acid
GB9903906D0 (en) 1999-02-19 1999-04-14 Microbiological Res Authority Method and apparatus for nucleic acid strand separation
CA2365123A1 (en) * 1999-03-17 2000-09-21 David R. Cox Mismatch repair detection
EP1169438A1 (en) 1999-04-12 2002-01-09 Genentech, Inc. Pcr-based cloning method
US20060275782A1 (en) 1999-04-20 2006-12-07 Illumina, Inc. Detection of nucleic acid reactions on bead arrays
US7056661B2 (en) 1999-05-19 2006-06-06 Cornell Research Foundation, Inc. Method for sequencing nucleic acid molecules
WO2001018230A1 (en) * 1999-09-08 2001-03-15 University Of Victoria Innovation & Development Corporation Use of psychrotrophic bacterium in biotechnology applications
ATE262595T1 (de) 1999-09-13 2004-04-15 Nugen Technologies Inc Methoden und zusammensetzungen zur linearen isothermalen amplifikation von polynukleotidsequenzen
WO2001023610A2 (en) 1999-09-29 2001-04-05 Solexa Ltd. Polynucleotide sequencing
JP2003515149A (ja) 1999-11-26 2003-04-22 キュラジェン コーポレイション 核酸プローブアレイ
US6653079B2 (en) 2000-03-13 2003-11-25 Freshgene, Inc. Methods for detection of differences in nucleic acids
US6917726B2 (en) 2001-09-27 2005-07-12 Cornell Research Foundation, Inc. Zero-mode clad waveguides for performing spectroscopy with confined effective observation volumes
US6626906B1 (en) 2000-10-23 2003-09-30 Sdgi Holdings, Inc. Multi-planar adjustable connector
US7001724B1 (en) 2000-11-28 2006-02-21 Applera Corporation Compositions, methods, and kits for isolating nucleic acids using surfactants and proteases
DK1381697T3 (da) 2001-02-27 2009-06-08 Virco Bvba Cirkulær probe-amplifikation (CPA) af ringformede nukleinsyremolekyler
MXPA02012739A (es) 2001-03-09 2004-04-20 Nugen Technologies Inc Metodos y composiciones para amplificacion de secuencias de arn.
US7122715B2 (en) 2001-09-20 2006-10-17 Monsanto Technology Llc In vitro method to create circular molecules for use in transformation
US6977148B2 (en) 2001-10-15 2005-12-20 Qiagen Gmbh Multiple displacement amplification
US20110151438A9 (en) 2001-11-19 2011-06-23 Affymetrix, Inc. Methods of Analysis of Methylation
US7553619B2 (en) 2002-02-08 2009-06-30 Qiagen Gmbh Detection method using dissociated rolling circle amplification
US6815167B2 (en) 2002-04-25 2004-11-09 Geneohm Sciences Amplification of DNA to produce single-stranded product of defined sequence and length
AU2003272438B2 (en) 2002-09-20 2009-04-02 New England Biolabs, Inc. Helicase dependent amplification of nucleic acids
EP1578994A2 (en) 2002-11-11 2005-09-28 Affymetrix, Inc. Methods for identifying dna copy number changes
WO2004070053A2 (en) 2003-02-03 2004-08-19 Amersham Biosciences Corporation cDNA AMPLIFICATION FOR EXPRESSION PROFILING
US20080021205A1 (en) 2003-12-11 2008-01-24 Helen Blau Methods and Compositions for Use in Preparing Hairpin Rnas
EP2789383B1 (en) 2004-01-07 2023-05-03 Illumina Cambridge Limited Molecular arrays
CA2557841A1 (en) * 2004-02-27 2005-09-09 President And Fellows Of Harvard College Polony fluorescent in situ sequencing beads
US20100075384A1 (en) 2004-03-25 2010-03-25 New England Biolabs, Inc. Helicase-dependent amplification of circular nucleic acids
US8039210B2 (en) 2004-05-14 2011-10-18 The Johns Hopkins University Protein tyrosine phosphatase mutations in cancers
US7170050B2 (en) 2004-09-17 2007-01-30 Pacific Biosciences Of California, Inc. Apparatus and methods for optical analysis of molecules
WO2006074162A2 (en) 2005-01-04 2006-07-13 Hitachi Chemical Company, Ltd. Primer generation rolling circle amplification
WO2006084051A2 (en) 2005-02-01 2006-08-10 John Wayne Cancer Institute Use of id4 for diagnosis and treatment of cancer
US7824890B2 (en) 2005-02-19 2010-11-02 Avacta Group Plc Isothermal amplification of nucleic acids
DE602005009324D1 (de) 2005-04-06 2008-10-09 Maurice Stroun Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf
US9139849B2 (en) 2005-04-08 2015-09-22 The United States of America as Represented by the Government of the Department of Health and Human Services Rapid generation of long synthetic centromeric tandem repeats for mammalian artificial chromosome formation
US20060228721A1 (en) 2005-04-12 2006-10-12 Leamon John H Methods for determining sequence variants using ultra-deep sequencing
DK1907571T3 (en) 2005-06-15 2017-08-21 Complete Genomics Inc NUCLEIC ACID ANALYSIS USING INCIDENTAL MIXTURES OF NON-OVERLAPPING FRAGMENTS
WO2007024653A2 (en) 2005-08-19 2007-03-01 Bioventures, Inc. Method and substances for isolating micro rnas
CA2631248C (en) 2005-11-28 2016-01-12 Pacific Biosciences Of California, Inc. Uniform surfaces for hybrid material substrates and methods for making and using same
WO2007087312A2 (en) 2006-01-23 2007-08-02 Population Genetics Technologies Ltd. Molecular counting
WO2007092538A2 (en) 2006-02-07 2007-08-16 President And Fellows Of Harvard College Methods for making nucleotide probes for sequencing and synthesis
US20100291548A1 (en) 2006-03-12 2010-11-18 Applera Corporation Methods of Detecting Target Nucleic Acids
WO2007133703A2 (en) 2006-05-10 2007-11-22 Dxterity Diagnostics Detection of nucleic acid targets using chemically reactive oligonucleotide probes
US8768629B2 (en) * 2009-02-11 2014-07-01 Caris Mpi, Inc. Molecular profiling of tumors
EP3260556B1 (en) 2006-05-31 2019-07-31 Sequenom, Inc. Methods for the extraction of nucleic acid from a sample
WO2008070352A2 (en) 2006-10-27 2008-06-12 Complete Genomics, Inc. Efficient arrays of amplified polynucleotides
AU2007203390B2 (en) 2007-04-26 2012-10-04 Yew Jin Fong Improved lace fastener
FR2924440B1 (fr) 2007-12-04 2015-01-09 Pf Medicament Nouveau procede de generation et de criblage d'une banque d'anticorps
AU2010213510B2 (en) 2009-02-16 2014-05-01 Epicentre Technologies Corporation Template-independent ligation of single-stranded DNA
WO2010117817A2 (en) 2009-03-30 2010-10-14 Life Technologies Corporation Methods for generating target specific probes for solution based capture
WO2010115100A1 (en) 2009-04-03 2010-10-07 L&C Diagment, Inc. Multiplex nucleic acid detection methods and systems
EP2419537B1 (en) 2009-04-13 2014-01-29 Somagenics, Inc. Methods and compositions for detection of small rnas
GB0910302D0 (en) 2009-06-15 2009-07-29 Lumora Ltd Nucleic acid amplification
US20110237444A1 (en) 2009-11-20 2011-09-29 Life Technologies Corporation Methods of mapping genomic methylation patterns
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
US8889350B2 (en) 2010-03-26 2014-11-18 Swift Biosciences, Inc. Methods and compositions for isolating polynucleotides
EP2585593B1 (en) 2010-06-24 2017-03-01 Population Genetics Technologies Ltd. Methods for polynucleotide library production, immortalization and region of interest extraction
WO2012006291A2 (en) 2010-07-06 2012-01-12 Life Technologies Corporation Systems and methods to detect copy number variation
CN102971434B (zh) 2010-08-11 2014-04-09 中国科学院心理研究所 一种甲基化dna的高通量测序方法及其应用
EP2426217A1 (en) 2010-09-03 2012-03-07 Centre National de la Recherche Scientifique (CNRS) Analytical methods for cell free nucleic acids and applications
CN101985654A (zh) 2010-10-21 2011-03-16 徐州医学院 检测多样本多位点snp的检测方法
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
EP3246416B1 (en) 2011-04-15 2024-06-05 The Johns Hopkins University Safe sequencing system
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
WO2013003585A2 (en) 2011-06-29 2013-01-03 The Johns Hopkins University Enrichment of nucleic acids by complimentary capture
CN103717752B (zh) 2011-08-05 2015-04-15 株式会社东芝 核酸分析法
EP2746395B1 (en) 2011-09-08 2017-11-29 Kabushiki Kaisha DNAFORM Primer set, method for amplifying target nucleic acid sequence using same, and method for detecting mutated nucleic acid using same
WO2013056178A2 (en) 2011-10-14 2013-04-18 Foundation Medicine, Inc. Novel estrogen receptor mutations and uses thereof
WO2013059740A1 (en) 2011-10-21 2013-04-25 Foundation Medicine, Inc. Novel alk and ntrk1 fusion molecules and uses thereof
WO2013074632A1 (en) 2011-11-14 2013-05-23 Rose Floyd D Mismatch nucleotide purification and identification
US20130217023A1 (en) 2012-02-22 2013-08-22 454 Life Sciences Corporation System And Method For Generation And Use Of Compact Clonally Amplified Products
WO2013142389A1 (en) 2012-03-20 2013-09-26 University Of Washington Through Its Center For Commercialization Methods of lowering the error rate of massively parallel dna sequencing using duplex consensus sequencing
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
AU2013267609C1 (en) 2012-05-31 2019-01-03 Board Of Regents, The University Of Texas System Method for accurate sequencing of DNA
US10538807B2 (en) 2012-06-01 2020-01-21 Fred Hutchinson Cancer Research Center Compositions and methods for detecting rare nucleic acid molecule mutations
WO2013188840A1 (en) 2012-06-14 2013-12-19 Fred Hutchinson Cancer Research Center Compositions and methods for sensitive mutation detection in nucleic acid molecules
WO2014008635A1 (zh) 2012-07-11 2014-01-16 北京贝瑞和康生物技术有限公司 片断dna检测方法、片断dna检测试剂盒及其应用
US9092401B2 (en) 2012-10-31 2015-07-28 Counsyl, Inc. System and methods for detecting genetic variation
AU2013292610B2 (en) 2012-07-17 2018-05-17 Myriad Women's Health, Inc. System and methods for detecting genetic variation
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
CA2890004A1 (en) 2012-10-31 2014-05-08 Becton, Dickinson And Company Selective amplification and real-time pcr detection of rare mutations
CA2898326C (en) 2013-01-18 2022-05-17 Foundation Medicine, Inc. Methods of treating cholangiocarcinoma
ES2900102T3 (es) 2013-02-20 2022-03-15 Univ Emory Composiciones para la secuenciación de ácidos nucleicos en mezclas
WO2014145078A1 (en) 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
US9290800B2 (en) 2013-03-15 2016-03-22 Pacific Biosciences Of California, Inc. Targeted rolling circle amplification
US20160032396A1 (en) 2013-03-15 2016-02-04 The Board Of Trustees Of The Leland Stanford Junior University Identification and Use of Circulating Nucleic Acid Tumor Markers
WO2014145128A2 (en) 2013-03-15 2014-09-18 Arnold Lyle J Methods for amplification of nucleic acids utilizing a circularized template prepared from a target nucleic acid
US20150033372A1 (en) 2013-05-01 2015-01-29 Kymab Limited Human VpreB & Chimaeric Surrogate Light Chains in Transgenic Non-Human Vertebrates
US9217167B2 (en) 2013-07-26 2015-12-22 General Electric Company Ligase-assisted nucleic acid circularization and amplification
US9644232B2 (en) 2013-07-26 2017-05-09 General Electric Company Method and device for collection and amplification of circulating nucleic acids
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
JP6602294B2 (ja) 2013-10-17 2019-11-06 タカラ バイオ ユーエスエー， インコーポレイテッド アダプタを核酸に追加する方法、及びこの方法を実行するための組成物
KR102205950B1 (ko) 2013-11-07 2021-01-22 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 인간 마이크로바이옴 및 그의 성분의 분석을 위한 무세포 핵산
GB201321123D0 (en) 2013-11-29 2014-01-15 Linea Ab Q Amplification of circular molecules
IL274464B2 (en) 2013-12-11 2023-08-01 Accuragen Holdings Ltd Preparations and methods for the detection of rare sequence variants
US11859246B2 (en) 2013-12-11 2024-01-02 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
US11286519B2 (en) 2013-12-11 2022-03-29 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
CN111534580B (zh) 2013-12-28 2024-06-04 夸登特健康公司 用于检测遗传变异的方法和系统
CN104745679B (zh) 2013-12-31 2018-06-15 杭州贝瑞和康基因诊断技术有限公司 一种无创检测egfr基因突变的方法及试剂盒
HUE058149T2 (hu) 2014-01-31 2022-07-28 Swift Biosciences Inc Javított eljárások DNS-szubsztrátok feldolgozására
SG11201610357UA (en) 2014-06-13 2017-01-27 Illumina Cambridge Ltd Methods and compositions for preparing sequencing libraries
WO2016011280A1 (en) 2014-07-16 2016-01-21 Tangen Biosciences, Inc. Isothermal methods for amplifying nucleic acid samples
WO2016053638A1 (en) * 2014-09-30 2016-04-07 Ge Healthcare Bio-Sciences Corp. Method for nucleic acid analysis directly from an unpurified biological sample
US10844428B2 (en) 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
CN114807323A (zh) 2015-10-09 2022-07-29 安可济控股有限公司 用于富集扩增产物的方法及组合物
EP3383994A4 (en) 2015-12-03 2019-08-28 Accuragen Holdings Limited METHOD AND COMPOSITIONS FOR FORMING LIGATION PRODUCTS
CA3024630A1 (en) 2016-05-16 2017-11-23 Accuragen Holdings Limited Method of improved sequencing by strand identification
US10370701B2 (en) 2016-06-17 2019-08-06 Pacific Biosciences Of California, Inc. Methods and compositions for generating asymmetrically-tagged nucleic acid fragments
US20190323073A1 (en) 2016-06-23 2019-10-24 Accuragen Holdings Limited Cell-free nucleic acid standards and uses thereof
WO2018035170A1 (en) 2016-08-15 2018-02-22 Accuragen Holdings Limited Compositions and methods for detecting rare sequence variants
US11203782B2 (en) 2018-03-29 2021-12-21 Accuragen Holdings Limited Compositions and methods comprising asymmetric barcoding

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