CA2877493C - Highly multiplex pcr methods and compositions - Google Patents
Highly multiplex pcr methods and compositions Download PDFInfo
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- CA2877493C CA2877493C CA2877493A CA2877493A CA2877493C CA 2877493 C CA2877493 C CA 2877493C CA 2877493 A CA2877493 A CA 2877493A CA 2877493 A CA2877493 A CA 2877493A CA 2877493 C CA2877493 C CA 2877493C
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| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
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| WO2011041485A1 (en) | 2009-09-30 | 2011-04-07 | Gene Security Network, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| EP2854058A3 (en) | 2010-05-18 | 2015-10-28 | Natera, Inc. | Methods for non-invasive pre-natal ploidy calling |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| JP6328934B2 (ja) | 2010-12-22 | 2018-05-23 | ナテラ， インコーポレイテッド | 非侵襲性出生前親子鑑定法 |
| JP6153874B2 (ja) | 2011-02-09 | 2017-06-28 | ナテラ， インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
| WO2012159089A1 (en) | 2011-05-19 | 2012-11-22 | Sequenom, Inc. | Products and processes for multiplex nucleic acid identification |
| RU2650790C2 (ru) * | 2012-07-24 | 2018-04-17 | Натера, Инк. | Способы и композиции для высокомультиплексной пцр |
| WO2015048535A1 (en) | 2013-09-27 | 2015-04-02 | Natera, Inc. | Prenatal diagnostic resting standards |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| WO2015164432A1 (en) * | 2014-04-21 | 2015-10-29 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| EP3561075A1 (en) | 2014-04-21 | 2019-10-30 | Natera, Inc. | Detecting mutations in tumour biopsies and cell-free samples |
| EA035747B1 (ru) * | 2014-11-28 | 2020-08-05 | ЮНИКЬЮРЕ АйПи Б.В. | Днк-примеси в композиции, содержащей парвовирусный вирион |
| US20170349926A1 (en) * | 2014-12-22 | 2017-12-07 | DNAe Group Holdings LTD. | Bubble primers |
| US10233489B2 (en) | 2015-04-24 | 2019-03-19 | Agena Bioscience, Inc. | Multiplexed method for the identification and quantitation of minor alleles and polymorphisms |
| EP3294906B1 (en) | 2015-05-11 | 2024-07-10 | Natera, Inc. | Methods for determining ploidy |
| GB2539675B (en) | 2015-06-23 | 2017-11-22 | Cs Genetics Ltd | Libraries of multimeric barcoding reagents and kits thereof for labelling nucleic acids for sequencing |
| WO2017044843A1 (en) | 2015-09-11 | 2017-03-16 | The General Hospital Corporation | Full interrogation of nuclease dsbs and sequencing (find-seq) |
| US10961567B2 (en) | 2016-02-25 | 2021-03-30 | Roche Sequencing Solutions, Inc. | Elimination of primer-primer interactions during primer extension |
| CA3016360A1 (en) * | 2016-04-15 | 2017-10-19 | Ucl Business Plc | Methods for lung cancer detection |
| CN114672516A (zh) * | 2016-07-29 | 2022-06-28 | 加利福尼亚大学董事会 | 具有变异衣壳的腺相关病毒病毒体和其使用方法 |
| JPWO2018061638A1 (ja) * | 2016-09-30 | 2019-07-04 | 富士フイルム株式会社 | １００ｐｇ以下のヒトゲノムＤＮＡからその由来を判別する方法、個人を識別する方法、および造血幹細胞の生着の程度を解析する方法 |
| WO2018067517A1 (en) | 2016-10-04 | 2018-04-12 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| EP3585889A1 (en) | 2017-02-21 | 2020-01-01 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| WO2019010456A1 (en) * | 2017-07-07 | 2019-01-10 | Stephen Quake | NON-INVASIVE PRENATAL DIAGNOSIS OF SINGLE GENE DISORDERS USING DIGITAL DROPLET PCR |
| KR101977976B1 (ko) * | 2017-08-10 | 2019-05-14 | 주식회사 엔젠바이오 | 앰플리콘 기반 차세대 염기서열 분석기법에서 프라이머 서열을 제거하여 분석의 정확도를 높이는 방법 |
| CA3073448A1 (en) | 2017-08-23 | 2019-02-28 | The General Hospital Corporation | Engineered crispr-cas9 nucleases with altered pam specificity |
| WO2019075197A1 (en) * | 2017-10-11 | 2019-04-18 | The General Hospital Corporation | METHODS OF DETECTION OF INDIVIDUAL SITE-SPECIFIC PARASITE GENOMIC DEAMINATION BY BASE EDITING TECHNOLOGIES |
| JP2021506342A (ja) | 2017-12-14 | 2021-02-22 | ティーエーアイ ダイアグノスティックス インコーポレイテッドＴａｉ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． | 移植のための移植片適合性の評価 |
| CN108334745B (zh) * | 2018-03-19 | 2022-02-08 | 青岛理工大学 | 一种聚合酶链反应过程非线性混杂系统建模方法 |
| CA3090426A1 (en) | 2018-04-14 | 2019-10-17 | Natera, Inc. | Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna |
| CA3097044A1 (en) | 2018-04-17 | 2019-10-24 | The General Hospital Corporation | Sensitive in vitro assays for substrate preferences and sites of nucleic acid binding, modifying, and cleaving agents |
| US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| EP3833783A1 (en) * | 2018-08-08 | 2021-06-16 | Inivata Ltd. | Method of sequencing using variable replicate multiplex pcr |
| CN112080558B (zh) * | 2019-06-13 | 2024-03-12 | 杭州贝瑞和康基因诊断技术有限公司 | 同时检测hba1/2和hbb基因突变的试剂盒和方法 |
| EP4004927A4 (en) * | 2019-07-22 | 2023-08-02 | Mission Bio, Inc. | USING MACHINE LEARNING TO OPTIMIZE ASSAYS FOR UNICELLULAR TARGETED DNA SEQUENCING |
| WO2021122620A1 (en) * | 2019-12-16 | 2021-06-24 | Agilent Technologies, Inc. | Genomic scarring assays and related methods |
| JP7320468B2 (ja) | 2020-03-10 | 2023-08-03 | Ntn株式会社 | 操舵機能付ハブユニットおよびこれを備えた車両 |
| CN113979895B (zh) * | 2020-07-08 | 2023-03-24 | 中国科学技术大学 | 一种精确序列可控的自降解聚合物及其制备方法和应用 |
| WO2022076574A1 (en) * | 2020-10-08 | 2022-04-14 | Claret Bioscience, Llc | Methods and compositions for analyzing nucleic acid |
| WO2022196781A1 (ja) | 2021-03-18 | 2022-09-22 | キヤノン株式会社 | 液体注入方法、液体注入装置および液体カートリッジ |
| JP2024533114A (ja) | 2021-09-01 | 2024-09-12 | ナテラ， インコーポレイテッド | 非侵襲性出生前検査のための方法 |
Family Cites Families (47)
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| US300235A (en) | 1884-06-10 | Chaeles b | ||
| US6479235B1 (en) * | 1994-09-30 | 2002-11-12 | Promega Corporation | Multiplex amplification of short tandem repeat loci |
| US6251604B1 (en) * | 1999-08-13 | 2001-06-26 | Genopsys, Inc. | Random mutagenesis and amplification of nucleic acid |
| DK1259643T3 (da) * | 2000-02-07 | 2009-02-23 | Illumina Inc | Fremgangsmåde til detektion af nukleinsyre ved anvendelse af universel priming |
| US7582420B2 (en) * | 2001-07-12 | 2009-09-01 | Illumina, Inc. | Multiplex nucleic acid reactions |
| EP1364046B1 (en) * | 2000-05-23 | 2011-11-30 | Variagenics, Inc. | Methods for genetic analysis of dna to detect sequence variances |
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| WO2005003375A2 (en) * | 2003-01-29 | 2005-01-13 | 454 Corporation | Methods of amplifying and sequencing nucleic acids |
| WO2004099439A1 (en) * | 2003-05-09 | 2004-11-18 | Tsinghua University | Methods and compositions for optimizing multiplex pcr primers |
| WO2005071078A1 (en) * | 2004-01-12 | 2005-08-04 | Nimblegen Systems Inc. | Method of performing pcr amplification on a microarray |
| US7618777B2 (en) * | 2005-03-16 | 2009-11-17 | Agilent Technologies, Inc. | Composition and method for array hybridization |
| US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
| US8515679B2 (en) | 2005-12-06 | 2013-08-20 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| ES2739483T3 (es) | 2006-02-02 | 2020-01-31 | Univ Leland Stanford Junior | Detección genética fetal no invasiva mediante análisis digital |
| WO2007111937A1 (en) * | 2006-03-23 | 2007-10-04 | Applera Corporation | Directed enrichment of genomic dna for high-throughput sequencing |
| JP2008125471A (ja) | 2006-11-22 | 2008-06-05 | Olympus Corp | マルチプレックスな核酸増幅方法 |
| EA015913B1 (ru) * | 2007-01-17 | 2011-12-30 | Учреждение Российской Академии Наук Институт Молекулярной Биологии Им. В.А. Энгельгардта Ран (Имб Ран) | Способ генетической идентификации личности на основе анализа однонуклеотидного полиморфизма генома человека с использованием олигонуклеотидного биологического микрочипа (биочипа) |
| WO2008093098A2 (en) * | 2007-02-02 | 2008-08-07 | Illumina Cambridge Limited | Methods for indexing samples and sequencing multiple nucleotide templates |
| US20090023190A1 (en) | 2007-06-20 | 2009-01-22 | Kai Qin Lao | Sequence amplification with loopable primers |
| WO2009032779A2 (en) * | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
| WO2009036525A2 (en) * | 2007-09-21 | 2009-03-26 | Katholieke Universiteit Leuven | Tools and methods for genetic tests using next generation sequencing |
| FR2925480B1 (fr) * | 2007-12-21 | 2011-07-01 | Gervais Danone Sa | Procede d'enrichissement d'une eau en oxygene par voie electrolytique, eau ou boisson enrichie en oxygene et utilisations |
| EP2077337A1 (en) | 2007-12-26 | 2009-07-08 | Eppendorf Array Technologies SA | Amplification and detection composition, method and kit |
| US20110033862A1 (en) | 2008-02-19 | 2011-02-10 | Gene Security Network, Inc. | Methods for cell genotyping |
| WO2009146335A1 (en) | 2008-05-27 | 2009-12-03 | Gene Security Network, Inc. | Methods for embryo characterization and comparison |
| ES2620431T3 (es) | 2008-08-04 | 2017-06-28 | Natera, Inc. | Métodos para la determinación de alelos y de ploidía |
| EP2952589B1 (en) | 2008-09-20 | 2018-02-14 | The Board of Trustees of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| AU2010232439C1 (en) * | 2009-04-02 | 2017-07-13 | Fluidigm Corporation | Multi-primer amplification method for barcoding of target nucleic acids |
| WO2011041485A1 (en) | 2009-09-30 | 2011-04-07 | Gene Security Network, Inc. | Methods for non-invasive prenatal ploidy calling |
| US8703652B2 (en) * | 2009-11-06 | 2014-04-22 | The Board Of Trustees Of The Leland Stanford Junior University | Non-invasive diagnosis of graft rejection in organ transplant patients |
| AU2011207544A1 (en) * | 2010-01-19 | 2012-09-06 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing |
| US20110312503A1 (en) * | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
| US8574832B2 (en) * | 2010-02-03 | 2013-11-05 | Massachusetts Institute Of Technology | Methods for preparing sequencing libraries |
| PL2558854T3 (pl) * | 2010-04-16 | 2019-04-30 | Chronix Biomedical | Biomarkery będące krążącymi kwasami nukleinowymi związanymi z rakiem piersi |
| WO2013052557A2 (en) | 2011-10-03 | 2013-04-11 | Natera, Inc. | Methods for preimplantation genetic diagnosis by sequencing |
| EP2854058A3 (en) | 2010-05-18 | 2015-10-28 | Natera, Inc. | Methods for non-invasive pre-natal ploidy calling |
| WO2011146942A1 (en) * | 2010-05-21 | 2011-11-24 | The Translational Genomics Research Institute | Methods and kits to analyze microrna by nucleic acid sequencing |
| PL2576837T3 (pl) * | 2010-06-04 | 2018-04-30 | Chronix Biomedical | Krążeniowe biomarkery typu kwasu nukleinowego związane z rakiem prostaty |
| JP5449060B2 (ja) * | 2010-06-30 | 2014-03-19 | 三菱重工業株式会社 | 風力発電装置 |
| EP2426217A1 (en) * | 2010-09-03 | 2012-03-07 | Centre National de la Recherche Scientifique (CNRS) | Analytical methods for cell free nucleic acids and applications |
| CN103620055A (zh) | 2010-12-07 | 2014-03-05 | 利兰·斯坦福青年大学托管委员会 | 在全基因组规模非侵入性确定亲本单倍型的胎儿遗传 |
| CN103370425B (zh) * | 2010-12-17 | 2019-03-19 | 生命技术公司 | 用于核酸扩增的方法、组合物、系统、仪器和试剂盒 |
| JP6328934B2 (ja) * | 2010-12-22 | 2018-05-23 | ナテラ， インコーポレイテッド | 非侵襲性出生前親子鑑定法 |
| EP2659003A4 (en) * | 2010-12-30 | 2014-05-21 | Foundation Medicine Inc | OPTIMIZATION OF MULTIGENIC ANALYSIS OF TUMOR SAMPLES |
| US20120190021A1 (en) | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
| JP6153874B2 (ja) | 2011-02-09 | 2017-06-28 | ナテラ， インコーポレイテッド | 非侵襲的出生前倍数性呼び出しのための方法 |
| RU2650790C2 (ru) | 2012-07-24 | 2018-04-17 | Натера, Инк. | Способы и композиции для высокомультиплексной пцр |
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