CA3033749A1 - Compositions and methods for detecting rare sequence variants - Google Patents
Compositions and methods for detecting rare sequence variants Download PDFInfo
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- CA3033749A1 CA3033749A1 CA3033749A CA3033749A CA3033749A1 CA 3033749 A1 CA3033749 A1 CA 3033749A1 CA 3033749 A CA3033749 A CA 3033749A CA 3033749 A CA3033749 A CA 3033749A CA 3033749 A1 CA3033749 A1 CA 3033749A1
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- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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| HK1259101A1 (zh) | 2015-10-09 | 2019-11-22 | Accuragen Holdings Limited | 用於富集扩增产物的方法及组合物 |
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| US20240254547A1 (en) * | 2018-04-27 | 2024-08-01 | 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 |
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| WO2023229999A1 (en) * | 2022-05-24 | 2023-11-30 | Accuragen Holdings Limited | Compositions and methods for detecting rare sequence variants |
| CA3267226A1 (en) | 2022-09-12 | 2024-03-21 | Element Biosciences Inc | DOUBLE STRAND TO STRAND SPLINT ADAPTERS, UNIVERSAL LONG SPLINTS 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 |
Family Cites Families (161)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US1015598A (en) | 1908-04-25 | 1912-01-23 | Carborundum Co | Light-refracting material. |
| US5322770A (en) | 1989-12-22 | 1994-06-21 | Hoffman-Laroche Inc. | Reverse transcription with thermostable DNA polymerases - high temperature reverse transcription |
| US5310652A (en) | 1986-08-22 | 1994-05-10 | Hoffman-La Roche Inc. | Reverse transcription with thermostable DNA polymerase-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 |
| US6800617B1 (en) | 1989-03-29 | 2004-10-05 | The Johns Hopkins University | Methods for restoring wild-type p53 gene function |
| US6677312B1 (en) | 1989-03-29 | 2004-01-13 | The Johns Hopkins University | Methods for restoring wild-type p53 gene function |
| US5362623A (en) | 1991-06-14 | 1994-11-08 | The John Hopkins University | Sequence specific DNA binding by p53 |
| DE69032864T3 (de) | 1989-03-29 | 2013-01-31 | The Johns Hopkins University | Nachweis des Ausfalls des Wildtyps des p53-Gens |
| US5527676A (en) | 1989-03-29 | 1996-06-18 | The Johns Hopkins University | Detection of loss of the wild-type P53 gene and kits therefor |
| CA2020958C (en) | 1989-07-11 | 2005-01-11 | Daniel L. Kacian | Nucleic acid sequence amplification methods |
| ATE282716T1 (de) | 1989-07-11 | 2004-12-15 | Gen Probe Inc | Verfahren zur amplifikation von nukleinsäuresequenzen |
| 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 |
| ES2158847T3 (es) | 1991-01-16 | 2001-09-16 | Univ Johns Hopkins | Mutaciones heredadas y somaticas del gen apc en el cancer colorectal del hombre. |
| 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 |
| US5591826A (en) | 1993-05-05 | 1997-01-07 | The Johns Hopkins University | Human MSH2 protein |
| US5492808A (en) | 1993-05-05 | 1996-02-20 | The Johns Hopkins University | Means for detecting familial colon cancer (FCC) |
| KR960703174A (ko) | 1993-06-09 | 1996-06-19 | 미안 알렉 | 자기장 순환식 반응방법(magnetic cycle reaction) |
| 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 |
| AU697269B2 (en) | 1994-01-27 | 1998-10-01 | Human Genome Sciences, Inc. | Human DNA mismatch repair proteins |
| US6033850A (en) | 1994-03-15 | 2000-03-07 | Affymetrix, Inc. | 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 |
| US5854033A (en) | 1995-11-21 | 1998-12-29 | Yale University | Rolling circle replication reporter systems |
| JP3974941B2 (ja) | 1995-11-21 | 2007-09-12 | イェール ユニバーシティ | 単分子セグメントの増幅および検出 |
| 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 |
| US6156504A (en) | 1996-03-15 | 2000-12-05 | The Penn State Research Foundation | Detection of extracellular tumor-associated nucleic acid in blood plasma or serum using nucleic acid amplification assays |
| US6511805B1 (en) | 1996-03-15 | 2003-01-28 | The Penn State Research Foundation | Methods for detecting papillomavirus DNA in blood plasma and serum |
| ES2347854T5 (es) | 1996-03-26 | 2014-07-24 | Michael S. Kopreski | Método que permite el uso de RNA extracelular extraído de plasma o suero para detectar, monitorizar o evaluar un cáncer |
| 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 |
| ATE364718T1 (de) | 1997-04-01 | 2007-07-15 | Solexa Ltd | Verfahren zur vervielfältigung von nukleinsäure |
| GB9706654D0 (en) | 1997-04-02 | 1997-05-21 | Scient Generics Ltd | Disassociation of interacting molecules |
| WO1998045474A1 (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 |
| DE69940623D1 (de) | 1998-11-09 | 2009-04-30 | Eiken Chemical | Prozess zur Synthetisierung von Nukleinsäure |
| 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 |
| JP2002541799A (ja) | 1999-04-12 | 2002-12-10 | ジェネンテック・インコーポレーテッド | Pcrによるクローニング方法 |
| 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 |
| IL148091A0 (en) | 1999-09-13 | 2002-09-12 | Nugen Technologies Inc | Methods and compositions for linear isothermal amplification of polynucleotide sequences |
| EP1218543A2 (en) | 1999-09-29 | 2002-07-03 | 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 |
| CA2439477C (en) | 2001-02-27 | 2014-04-15 | Virco Bvba | Circular probe amplification (cpa) using energy-transfer primers |
| WO2002072772A2 (en) | 2001-03-09 | 2002-09-19 | Nugen Technologies, Inc. | Methods and compositions for amplification of rna sequences |
| 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 |
| JP2006516410A (ja) | 2003-02-03 | 2006-07-06 | ジーイー・ヘルスケア・バイオサイエンス・コーポレイション | 発現プロファイリングのためのcDNA増幅 |
| US20080021205A1 (en) | 2003-12-11 | 2008-01-24 | Helen Blau | Methods and Compositions for Use in Preparing Hairpin Rnas |
| JP2007525571A (ja) | 2004-01-07 | 2007-09-06 | ソレクサ リミテッド | 修飾分子アレイ |
| AU2005216549A1 (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 |
| WO2005113824A2 (en) | 2004-05-14 | 2005-12-01 | Zhenghe Wang | 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 |
| EP1833994A4 (en) | 2005-01-04 | 2009-09-02 | Hitachi Chemical Co Ltd | ROLLING CIRCLE GAINING OF A PRIMER GENERATION |
| US7588894B2 (en) | 2005-02-01 | 2009-09-15 | John Wayne Cancern 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 |
| EP1907571B1 (en) * | 2005-06-15 | 2017-04-26 | Complete Genomics Inc. | Nucleic acid analysis by random mixtures of non-overlapping fragments |
| WO2007024653A2 (en) | 2005-08-19 | 2007-03-01 | Bioventures, Inc. | Method and substances for isolating micro rnas |
| AU2006320739B2 (en) | 2005-11-28 | 2012-03-29 | Pacific Biosciences Of California, Inc. | Uniform surfaces for hybrid material substrates and methods for making and using same |
| US7537897B2 (en) | 2006-01-23 | 2009-05-26 | 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 |
| WO2007117832A2 (en) | 2006-03-12 | 2007-10-18 | Applera Corporation | Methods of detecting target nucleic acids |
| EP2677039B8 (en) | 2006-05-10 | 2022-10-05 | DxTerity Diagnostics Incorporated | 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 |
| WO2007140417A2 (en) | 2006-05-31 | 2007-12-06 | Sequenom, Inc. | Methods and compositions for the extraction and amplification of nucleic acid from a sample |
| US7910302B2 (en) | 2006-10-27 | 2011-03-22 | 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 |
| US8962253B2 (en) | 2009-04-13 | 2015-02-24 | 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 |
| US9096952B2 (en) | 2010-06-24 | 2015-08-04 | Population Genetics Technologies Ltd. | Methods and compositions 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 |
| US9518295B2 (en) | 2010-08-11 | 2016-12-13 | Institute Of Psychology, Chinese Academy Of Sciences | High-throughput sequencing method for methylated DNA and use thereof |
| 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 |
| DK3246416T3 (da) | 2011-04-15 | 2024-09-02 | Univ Johns Hopkins | Sikkert sekventeringssystem |
| 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 |
| WO2013035875A1 (ja) | 2011-09-08 | 2013-03-14 | 独立行政法人理化学研究所 | プライマーセット及びそれを用いた標的核酸配列の増幅方法並びに変異核酸の検出方法 |
| 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 |
| EP4234713A3 (en) | 2012-03-20 | 2024-02-14 | 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 |
| WO2013181170A1 (en) | 2012-05-31 | 2013-12-05 | Board Of Regents, The University Of Texas System | Method for accurate sequencing of dna |
| WO2013181276A1 (en) | 2012-06-01 | 2013-12-05 | Fred Hutchinson Cancer Research Center | Compositions and methods for detecting rare nucleic acid molecule mutations |
| CN104350161A (zh) | 2012-06-14 | 2015-02-11 | 弗莱德哈钦森癌症研究中心 | 用于核酸分子中的敏感突变检测的组合物和方法 |
| US9540687B2 (en) | 2012-07-11 | 2017-01-10 | Berry Genomics Co., Ltd. | DNA fragment detection method, DNA fragment detection kit and the use thereof |
| US9092401B2 (en) | 2012-10-31 | 2015-07-28 | Counsyl, Inc. | System and methods for detecting genetic variation |
| EP2875173B1 (en) | 2012-07-17 | 2017-06-28 | Counsyl, 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 |
| US20150315636A1 (en) | 2012-10-31 | 2015-11-05 | Becton, Dickinson And Company | Selective amplification and real-time pcr detection of rare mutations |
| EP3939614A1 (en) | 2013-01-18 | 2022-01-19 | 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 |
| US9290800B2 (en) | 2013-03-15 | 2016-03-22 | Pacific Biosciences Of California, Inc. | Targeted rolling circle amplification |
| EP4253558B1 (en) | 2013-03-15 | 2025-07-02 | The Board of Trustees of the Leland Stanford Junior University | Identification and use of circulating nucleic acid tumor markers |
| US10081825B2 (en) | 2013-03-15 | 2018-09-25 | Aegea Biotechnologies, Inc. | Methods for amplification of nucleic acids utilizing a circularized template prepared from a target nucleic acid |
| EP3409791B1 (en) | 2013-03-15 | 2021-06-30 | Verinata Health, Inc. | Generating cell-free dna libraries directly from blood |
| US20150033372A1 (en) | 2013-05-01 | 2015-01-29 | Kymab Limited | Human VpreB & Chimaeric Surrogate Light Chains in Transgenic Non-Human Vertebrates |
| US9644232B2 (en) | 2013-07-26 | 2017-05-09 | General Electric Company | Method and device for collection and amplification of circulating nucleic acids |
| US9217167B2 (en) | 2013-07-26 | 2015-12-22 | General Electric Company | Ligase-assisted nucleic acid circularization and amplification |
| WO2015048535A1 (en) | 2013-09-27 | 2015-04-02 | Natera, Inc. | Prenatal diagnostic resting standards |
| EP3058104B1 (en) | 2013-10-17 | 2020-08-19 | Takara Bio USA, Inc. | Methods for adding adapters to nucleic acids and compositions for practicing the same |
| KR20240038168A (ko) | 2013-11-07 | 2024-03-22 | 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 |
| US11859246B2 (en) | 2013-12-11 | 2024-01-02 | Accuragen Holdings Limited | Methods and compositions for enrichment of amplification products |
| EP3495506B1 (en) | 2013-12-11 | 2023-07-12 | AccuraGen Holdings Limited | Methods for detecting rare sequence variants |
| US11286519B2 (en) | 2013-12-11 | 2022-03-29 | Accuragen Holdings Limited | Methods and compositions for enrichment of amplification products |
| EP3378952B1 (en) | 2013-12-28 | 2020-02-05 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
| 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 |
| EP4039811B1 (en) | 2014-01-31 | 2023-09-20 | Integrated DNA Technologies, Inc. | Improved methods for processing dna substrates |
| CA3172086A1 (en) | 2014-06-13 | 2015-12-17 | Illumina Cambridge Limited | Methods and compositions for preparing sequencing libraries |
| CN106661600B (zh) | 2014-07-16 | 2021-04-06 | 唐恩生物科技股份有限公司 | 用于扩增核酸样品的等温方法 |
| US11987836B2 (en) * | 2014-09-30 | 2024-05-21 | Global Life Sciences Solutions Usa Llc | 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) |
| HK1259101A1 (zh) | 2015-10-09 | 2019-11-22 | Accuragen Holdings Limited | 用於富集扩增产物的方法及组合物 |
| US12163184B2 (en) | 2015-12-03 | 2024-12-10 | Accuragen Holdings Limited | Methods and compositions for forming ligation products |
| WO2017201102A1 (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 |
| EP3475449B1 (en) | 2016-06-23 | 2022-08-17 | Accuragen Holdings Limited | Uses of a cell-free nucleic acid standards |
| 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 |
-
2017
- 2017-08-15 WO PCT/US2017/047029 patent/WO2018035170A1/en not_active Ceased
- 2017-08-15 CA CA3033749A patent/CA3033749A1/en active Pending
- 2017-08-15 EP EP17842023.8A patent/EP3497245A4/en active Pending
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- 2017-08-15 SG SG11201901296TA patent/SG11201901296TA/en unknown
- 2017-08-15 CN CN201780063576.4A patent/CN109844133A/zh active Pending
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- 2017-11-01 US US15/800,558 patent/US10155980B2/en active Active
-
2018
- 2018-10-26 US US16/172,310 patent/US10724088B2/en active Active
-
2020
- 2020-06-08 US US16/896,073 patent/US11643683B2/en active Active
-
2021
- 2021-10-11 JP JP2021166929A patent/JP7365382B2/ja active Active
-
2023
- 2023-03-28 US US18/191,792 patent/US20230357836A1/en active Pending
- 2023-10-03 JP JP2023172298A patent/JP2024012298A/ja active Pending
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