CN102648292A - 基于甲基化从母体样品中富集胎儿核酸的可用于无创性产前诊断的方法和组合物 - Google Patents

基于甲基化从母体样品中富集胎儿核酸的可用于无创性产前诊断的方法和组合物 Download PDF

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CN102648292A
CN102648292A CN2010800527486A CN201080052748A CN102648292A CN 102648292 A CN102648292 A CN 102648292A CN 2010800527486 A CN2010800527486 A CN 2010800527486A CN 201080052748 A CN201080052748 A CN 201080052748A CN 102648292 A CN102648292 A CN 102648292A
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nucleic acid
fetal
dna
maternal
methylation
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M·埃里希
A·O·H·尼格伦
T·J·詹森
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Sequenom Inc
Sequenom Center for Molecular Medicine LLC
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Sequenom Inc
Sequenom Center for Molecular Medicine LLC
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CN2010800527486A 2009-09-16 2010-03-18 基于甲基化从母体样品中富集胎儿核酸的可用于无创性产前诊断的方法和组合物 Pending CN102648292A (zh)

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US12/561,241 US8476013B2 (en) 2008-09-16 2009-09-16 Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US12/561,241 2009-09-16
PCT/US2010/027879 WO2011034631A1 (en) 2009-09-16 2010-03-18 Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses

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Cited By (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN107002122A (zh) * 2014-07-25 2017-08-01 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
CN107223159A (zh) * 2014-05-09 2017-09-29 科戴克斯生命股份公司 源自特定细胞类型的dna的检测及相关方法
CN107451419A (zh) * 2017-07-14 2017-12-08 浙江大学 一种通过计算机程序模拟产生简化dna甲基化测序数据的方法
WO2018072705A1 (en) * 2016-10-19 2018-04-26 The Chinese University Of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma dna
CN109689896A (zh) * 2015-11-10 2019-04-26 科戴克斯生命股份公司 使用在胎儿和怀孕雌性动物之间差异甲基化的dna区域检测胎儿染色体非整倍性
CN110325650A (zh) * 2016-12-22 2019-10-11 夸登特健康公司 用于分析核酸分子的方法和系统
CN111065746A (zh) * 2018-03-19 2020-04-24 伊鲁米纳公司 用于用重组核酸酶选择性切割核酸的方法和组合物
CN111593119A (zh) * 2020-06-28 2020-08-28 成都市妇女儿童中心医院 用于检测母体血液中胎儿游离DNA β-地中海贫血突变的探针及试剂盒
CN113061653A (zh) * 2021-05-07 2021-07-02 济南国科医工科技发展有限公司 用于产前无创检测21三体综合征的pcr扩增组合物及检测试剂盒
US11773443B2 (en) 2014-05-09 2023-10-03 Eurofins Lifecodexx Gmbh Multiplex detection of DNA that originates from a specific cell-type

Families Citing this family (184)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
US7888127B2 (en) 2008-01-15 2011-02-15 Sequenom, Inc. Methods for reducing adduct formation for mass spectrometry analysis
CA2717320A1 (en) * 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US8962247B2 (en) * 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
CA3209502A1 (en) * 2008-09-16 2010-03-25 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
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
US9926593B2 (en) 2009-12-22 2018-03-27 Sequenom, Inc. Processes and kits for identifying aneuploidy
EA023565B1 (ru) 2010-01-26 2016-06-30 ЭнАйПиДи ДЖЕНЕТИКС ЛТД. Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332793B2 (en) 2010-05-18 2022-05-17 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
US12152275B2 (en) 2010-05-18 2024-11-26 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
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) * 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US20120190557A1 (en) * 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Risk calculation for evaluation of fetal aneuploidy
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
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
CA2825029C (en) * 2011-01-25 2020-10-13 Ariosa Diagnostics, Inc. Risk calculation for evaluation of fetal aneuploidy
EP3483285B1 (en) 2011-02-09 2021-07-14 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
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
US12097495B2 (en) * 2011-02-18 2024-09-24 Bio-Rad Laboratories, Inc. Methods and compositions for detecting genetic material
CN103492589B (zh) 2011-02-24 2016-06-15 香港中文大学 多胎妊娠的分子测试
US8455221B2 (en) * 2011-04-29 2013-06-04 Sequenom, Inc. Quantification of a minority nucleic acid species
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
WO2013052913A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 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
DK2766496T3 (en) 2011-10-11 2017-05-15 Sequenom Inc METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2805280B1 (en) 2012-01-20 2022-10-05 Sequenom, Inc. Diagnostic processes that factor experimental conditions
EP4372084A3 (en) 2012-01-26 2024-08-14 Tecan Genomics, Inc. Compositions and methods for targeted nucleic acid sequence enrichment and high efficiency library generation
HK1206069A1 (en) 2012-02-27 2015-12-31 Cellular Research, Inc. Compositions and kits for molecular counting
EP2820174B1 (en) 2012-02-27 2019-12-25 The University of North Carolina at Chapel Hill Methods and uses for molecular tags
WO2013130857A1 (en) * 2012-02-29 2013-09-06 Bio Dx, Inc. Defining diagnostic and therapeutic targets of conserved fetal dna in maternal circulating blood
HK1206055A1 (en) 2012-03-02 2015-12-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9127317B2 (en) 2012-03-02 2015-09-08 Winthrop-University Hospital Method for using probe based PCR detection to measure the levels of circulating demethylated β cell derived DNA as a measure of β cell loss in diabetes
FI2831279T3 (fi) * 2012-03-26 2023-05-23 Univ Johns Hopkins Nopea aneuploidian havaitseminen
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
EP2852680B1 (en) 2012-05-21 2019-12-25 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN102676513A (zh) * 2012-05-28 2012-09-19 武汉大学 一种胎儿表观遗传学标志物及其应用
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20150011396A1 (en) * 2012-07-09 2015-01-08 Benjamin G. Schroeder Methods for creating directional bisulfite-converted nucleic acid libraries for next generation sequencing
WO2014011928A1 (en) 2012-07-13 2014-01-16 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
AU2013292287A1 (en) 2012-07-19 2015-02-19 Ariosa Diagnostics, Inc. Multiplexed sequential ligation-based detection of genetic variants
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
WO2014051522A1 (en) * 2012-09-26 2014-04-03 Agency For Science, Technology And Research Biomarkers for down syndrome prenatal diagnosis
EP2904534B1 (en) 2012-10-04 2021-12-15 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014089368A1 (en) * 2012-12-05 2014-06-12 Bio-Rad Laboratories, Inc Methods for polymerase chain reaction copy number variation assays
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130189684A1 (en) 2013-03-12 2013-07-25 Sequenom, Inc. Quantification of cell-specific nucleic acid markers
US9305756B2 (en) 2013-03-13 2016-04-05 Agena Bioscience, Inc. Preparation enhancements and methods of use for MALDI mass spectrometry
EP2971100A1 (en) 2013-03-13 2016-01-20 Sequenom, Inc. Primers for dna methylation analysis
ES2939547T3 (es) 2013-04-03 2023-04-24 Sequenom Inc Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas
US20140336055A1 (en) 2013-05-07 2014-11-13 Sequenom, Inc. Genetic markers for macular degeneration disorder treatment
IL300163B2 (en) 2013-05-24 2024-06-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
MX2015016911A (es) 2013-06-21 2016-06-21 Sequenom Inc Metodos y procesos para evaluacion no invasiva de variaciones geneticas.
AU2014312208B2 (en) 2013-08-28 2019-07-25 Becton, Dickinson And Company Massively parallel single cell analysis
IL289974B (en) 2013-10-04 2022-09-01 Sequenom Inc Methods and processes for non-invasive evaluation of genetic variations
EP3055427B1 (en) 2013-10-07 2018-09-12 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
JP2017504307A (ja) 2013-10-07 2017-02-09 セルラー リサーチ, インコーポレイテッド アレイ上のフィーチャーをデジタルカウントするための方法およびシステム
EP3055423B1 (en) * 2013-10-11 2019-12-25 Cellectis Method for detecting nucleic acid sequences of interest using talen protein
EP3736344A1 (en) 2014-03-13 2020-11-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6659575B2 (ja) 2014-04-21 2020-03-04 ナテラ, インコーポレイテッド 変異の検出および染色体分節の倍数性
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP2942401A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Detection of DNA that originates from a specific cell-type
EP3598452B1 (en) 2014-05-30 2023-07-26 Sequenom, Inc. Chromosome representation determinations
US20180173846A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
EP3760739B1 (en) 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10174383B2 (en) 2014-08-13 2019-01-08 Vanadis Diagnostics Method of estimating the amount of a methylated locus in a sample
EP3191606B1 (en) * 2014-09-12 2020-05-27 Illumina, Inc. Methods for detecting the presence of polymer subunits using chemiluminescence
JP6971845B2 (ja) 2014-10-10 2021-11-24 セクエノム, インコーポレイテッド 遺伝子の変動の非侵襲的評価のための方法および処理
CA2965500A1 (en) * 2014-10-24 2016-04-28 Abbott Molecular Inc. Enrichment of small nucleic acids
WO2016134078A1 (en) 2015-02-19 2016-08-25 Becton, Dickinson And Company High-throughput single-cell analysis combining proteomic and genomic information
CN107208158B (zh) 2015-02-27 2022-01-28 贝克顿迪金森公司 空间上可寻址的分子条形编码
KR101546366B1 (ko) 2015-03-16 2015-08-25 의료법인 제일의료재단 태아 특이적 후성학적 메틸화 마커 검출용 조성물 및 검출방법
EP3277843A2 (en) 2015-03-30 2018-02-07 Cellular Research, Inc. Methods and compositions for combinatorial barcoding
WO2016172373A1 (en) 2015-04-23 2016-10-27 Cellular Research, Inc. Methods and compositions for whole transcriptome amplification
DK3294906T3 (en) 2015-05-11 2024-08-05 Natera Inc Methods for determining ploidy
AU2016269332B2 (en) 2015-05-22 2021-08-12 Medicover Public Co Ltd Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
US11124823B2 (en) 2015-06-01 2021-09-21 Becton, Dickinson And Company Methods for RNA quantification
ES2745694T3 (es) 2015-09-11 2020-03-03 Cellular Res Inc Métodos y composiciones para normalización de biblioteca de ácido nucleico
CN109477138A (zh) 2016-04-15 2019-03-15 纳特拉公司 肺癌检测方法
EP4269616A3 (en) 2016-05-02 2024-02-14 Becton, Dickinson and Company Accurate molecular barcoding
US10301677B2 (en) 2016-05-25 2019-05-28 Cellular Research, Inc. Normalization of nucleic acid libraries
JP7046007B2 (ja) 2016-05-26 2022-04-01 ベクトン・ディキンソン・アンド・カンパニー 分子標識カウントの調節方法
EP3464626B1 (en) 2016-05-27 2022-04-06 Sequenom, Inc. Methods for detecting genetic variations
US10202641B2 (en) 2016-05-31 2019-02-12 Cellular Research, Inc. Error correction in amplification of samples
US10640763B2 (en) 2016-05-31 2020-05-05 Cellular Research, Inc. Molecular indexing of internal sequences
JP7048105B2 (ja) 2016-07-15 2022-04-05 ザ リージェンツ オブ ザ ユニバーシティ オブ カリフォルニア 核酸ライブラリを生成する方法
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
WO2018022906A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
SG11201901733PA (en) 2016-09-26 2019-04-29 Cellular Res Inc Measurement of protein expression using reagents with barcoded oligonucleotide sequences
US11854666B2 (en) 2016-09-29 2023-12-26 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
US11608497B2 (en) 2016-11-08 2023-03-21 Becton, Dickinson And Company Methods for cell label classification
ES2980967T3 (es) 2016-11-08 2024-10-03 Becton Dickinson Co Métodos para la clasificación de perfiles de expresión
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
WO2018132610A1 (en) 2017-01-13 2018-07-19 Cellular Research, Inc. Hydrophilic coating of fluidic channels
CA3049455C (en) 2017-01-20 2023-06-13 Sequenom, Inc. Sequencing adapter manufacture and use
EP3571615B1 (en) 2017-01-20 2024-01-24 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
CA3194621A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
JP7237003B2 (ja) 2017-01-24 2023-03-10 セクエノム, インコーポレイテッド 遺伝子片の評価のための方法およびプロセス
US11319583B2 (en) 2017-02-01 2022-05-03 Becton, Dickinson And Company Selective amplification using blocking oligonucleotides
US12421550B2 (en) 2017-03-17 2025-09-23 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
US20180312911A1 (en) * 2017-05-01 2018-11-01 The Board Of Trustees Of The Leland Stanford Junior University Profiling of DNA methylation using magnetoresistive biosensor array
CA3059559A1 (en) 2017-06-05 2018-12-13 Becton, Dickinson And Company Sample indexing for single cells
CN111051511A (zh) * 2017-08-04 2020-04-21 十亿至一公司 用于与生物靶相关的表征的靶相关分子
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
JP6447765B1 (ja) * 2017-11-21 2019-01-09 株式会社リコー 検査デバイス及びデバイス
EP3486330A1 (en) 2017-11-21 2019-05-22 Ricoh Company, Ltd. Device for measuring ranges of copy numbers
US10426424B2 (en) 2017-11-21 2019-10-01 General Electric Company System and method for generating and performing imaging protocol simulations
US12084720B2 (en) 2017-12-14 2024-09-10 Natera, Inc. Assessing graft suitability for transplantation
US11946095B2 (en) 2017-12-19 2024-04-02 Becton, Dickinson And Company Particles associated with oligonucleotides
CN111954720A (zh) 2018-01-12 2020-11-17 克拉雷特生物科学有限责任公司 用于分析核酸的方法和组合物
WO2019161031A1 (en) 2018-02-15 2019-08-22 Papgene, Inc. Barcoded molecular standards
CN112236535A (zh) 2018-04-14 2021-01-15 纳特拉公司 用于借助于循环肿瘤dna的个人化检测的癌症检测和监测的方法
CN118910215A (zh) 2018-05-03 2024-11-08 贝克顿迪金森公司 在相对的转录物末端进行分子条形码化
JP7407128B2 (ja) 2018-05-03 2023-12-28 ベクトン・ディキンソン・アンド・カンパニー ハイスループットマルチオミクスサンプル解析
AU2019280712B2 (en) 2018-06-06 2025-11-20 The Regents Of The University Of California Methods of producing nucleic acid libraries and compositions and kits for practicing same
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
EP3861134B1 (en) 2018-10-01 2024-09-04 Becton, Dickinson and Company Determining 5' transcript sequences
CN112969789A (zh) 2018-11-08 2021-06-15 贝克顿迪金森公司 使用随机引发的单细胞全转录组分析
CN113195717A (zh) 2018-12-13 2021-07-30 贝克顿迪金森公司 单细胞全转录组分析中的选择性延伸
US11371076B2 (en) 2019-01-16 2022-06-28 Becton, Dickinson And Company Polymerase chain reaction normalization through primer titration
CN113574178B (zh) 2019-01-23 2024-10-29 贝克顿迪金森公司 与抗体关联的寡核苷酸
EP3924506A1 (en) 2019-02-14 2021-12-22 Becton Dickinson and Company Hybrid targeted and whole transcriptome amplification
CN114174530A (zh) 2019-04-05 2022-03-11 克拉雷特生物科学有限责任公司 用于分析核酸的方法和组合物
US20220262462A1 (en) 2019-04-10 2022-08-18 University Of Pittsburgh - Of The Commonwealth System Of Higher Education Computational filtering of methylated sequence data for predictive modeling
US11965208B2 (en) 2019-04-19 2024-04-23 Becton, Dickinson And Company Methods of associating phenotypical data and single cell sequencing data
EP3980559A1 (en) 2019-06-06 2022-04-13 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
WO2021016239A1 (en) 2019-07-22 2021-01-28 Becton, Dickinson And Company Single cell chromatin immunoprecipitation sequencing assay
WO2021067484A1 (en) 2019-09-30 2021-04-08 Guardant Health, Inc. Compositions and methods for analyzing cell-free dna in methylation partitioning assays
AU2020363787A1 (en) 2019-10-09 2022-04-21 Claret Bioscience, Llc Methods and compositions for analyzing nucleic acid
EP4052259A1 (en) 2019-10-31 2022-09-07 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
ES2987640T3 (es) 2019-11-08 2024-11-15 Becton Dickinson Co Uso de cebado aleatorio para obtener información de V(D)J de longitud completa para la secuenciación del repertorio inmunitario
CN115244184A (zh) 2020-01-13 2022-10-25 贝克顿迪金森公司 用于定量蛋白和rna的方法和组合物
EP4097228B1 (en) 2020-01-29 2024-08-14 Becton, Dickinson and Company Barcoded wells for spatial mapping of single cells through sequencing
CN115151810A (zh) 2020-02-25 2022-10-04 贝克顿迪金森公司 实现使用单细胞样品作为单色补偿对照的双特异性探针
CN112662761A (zh) * 2020-03-05 2021-04-16 博尔诚(北京)科技有限公司 一种检测3种实质性器官肿瘤的探针组合物
EP4150118A1 (en) 2020-05-14 2023-03-22 Becton Dickinson and Company Primers for immune repertoire profiling
CN115803445A (zh) 2020-06-02 2023-03-14 贝克顿迪金森公司 用于5撇基因表达测定的寡核苷酸和珠
US20230235320A1 (en) 2020-06-24 2023-07-27 Claret Bioscience, Llc Methods and compositions for analyzing nucleic acid
KR102332540B1 (ko) * 2020-07-02 2021-11-29 의료법인 성광의료재단 다운증후군 특이적인 후성학적 마커를 이용한 다운증후군 진단 방법
US11932901B2 (en) 2020-07-13 2024-03-19 Becton, Dickinson And Company Target enrichment using nucleic acid probes for scRNAseq
CN116194589A (zh) 2020-07-31 2023-05-30 贝克顿迪金森公司 用于转座酶可及染色质的单细胞测定
US20240395358A1 (en) 2020-10-08 2024-11-28 Claret Bioscience, Llc Methods and compositions for analyzing nucleic acid
EP4225937A4 (en) * 2020-10-09 2024-10-16 Takara Bio USA, Inc. METHODS AND COMPOSITIONS FOR PREPARING NUCLEIC ACIDS FOR GENETIC ANALYSIS PURPOSES
EP4232599A1 (en) 2020-10-23 2023-08-30 Guardant Health, Inc. Compositions and methods for analyzing dna using partitioning and base conversion
WO2022109343A1 (en) 2020-11-20 2022-05-27 Becton, Dickinson And Company Profiling of highly expressed and lowly expressed proteins
US20220170010A1 (en) 2020-12-02 2022-06-02 Illumina Software, Inc. System and method for detection of genetic alterations
WO2022132206A1 (en) 2020-12-15 2022-06-23 Becton, Dickinson And Company Single cell secretome analysis
WO2023086967A1 (en) * 2021-11-12 2023-05-19 Guardant Health, Inc. Method of analysis of methylated dna-binding proteins
WO2024186778A1 (en) 2023-03-03 2024-09-12 Laboratory Corporation Of America Holdings Methods and systems for positive cfdna screening on genetic variations using mosaicism ratio
CN121153082A (zh) 2023-05-15 2025-12-16 美国控股实验室公司 用于在全基因组测序中进行泛癌筛查的机器学习方法
CN117420314B (zh) * 2023-10-23 2024-10-25 昆明医科大学 维生素k依赖蛋白z的应用

Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003062441A1 (en) * 2002-01-18 2003-07-31 Genzyme Corporation Methods for fetal dna detection and allele quantitation
WO2007132166A2 (en) * 2006-05-03 2007-11-22 The Chinese University Of Hong Kong New fetal methylation markers
US20070275402A1 (en) * 2006-05-03 2007-11-29 The Chinese University Of Hong Kong Novel markers for prenatal diagnosis and monitoring

Family Cites Families (264)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US2187108A (en) 1938-05-27 1940-01-16 Du Pont Process of purifying lead nitrate solutions
JPS5727375B2 (enExample) 1973-06-01 1982-06-10
US4179337A (en) 1973-07-20 1979-12-18 Davis Frank F Non-immunogenic polypeptides
DE2712230C2 (de) 1977-03-19 1985-05-23 Bayer Ag, 5090 Leverkusen Verzweigte Segmentpolymere
US4109496A (en) 1977-12-20 1978-08-29 Norris Industries Trapped key mechanism
US4458066A (en) * 1980-02-29 1984-07-03 University Patents, Inc. Process for preparing polynucleotides
US4469863A (en) 1980-11-12 1984-09-04 Ts O Paul O P Nonionic nucleic acid alkyl and aryl phosphonates and processes for manufacture and use thereof
JPS58129411A (ja) 1982-01-27 1983-08-02 Nippon Kogaku Kk <Nikon> リアフオ−カスコンバ−ジヨンレンズ
US4522811A (en) * 1982-07-08 1985-06-11 Syntex (U.S.A.) Inc. Serial injection of muramyldipeptides and liposomes enhances the anti-infective activity of muramyldipeptides
GB8311018D0 (en) * 1983-04-22 1983-05-25 Amersham Int Plc Detecting mutations in dna
US4683195A (en) * 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4683202A (en) * 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
US5656493A (en) 1985-03-28 1997-08-12 The Perkin-Elmer Corporation System for automated performance of the polymerase chain reaction
US4965188A (en) 1986-08-22 1990-10-23 Cetus Corporation Process for amplifying, detecting, and/or cloning nucleic acid sequences using a thermostable enzyme
US4676980A (en) * 1985-09-23 1987-06-30 The United States Of America As Represented By The Secretary Of The Department Of Health And Human Services Target specific cross-linked heteroantibodies
US4868103A (en) 1986-02-19 1989-09-19 Enzo Biochem, Inc. Analyte detection by means of energy transfer
ATE141646T1 (de) 1986-04-09 1996-09-15 Genzyme Corp Genetisch transformierte tiere, die ein gewünschtes protein in milch absondern
US4851331A (en) * 1986-05-16 1989-07-25 Allied Corporation Method and kit for polynucleotide assay including primer-dependant DNA polymerase
US5202231A (en) * 1987-04-01 1993-04-13 Drmanac Radoje T Method of sequencing of genomes by hybridization of oligonucleotide probes
US5525464A (en) 1987-04-01 1996-06-11 Hyseq, Inc. Method of sequencing by hybridization of oligonucleotide probes
US4873316A (en) 1987-06-23 1989-10-10 Biogen, Inc. Isolation of exogenous recombinant proteins from the milk of transgenic mammals
US5080891A (en) * 1987-08-03 1992-01-14 Ddi Pharmaceuticals, Inc. Conjugates of superoxide dismutase coupled to high molecular weight polyalkylene glycols
US5048530A (en) 1988-08-17 1991-09-17 Robert Hurwitz Method of using an amniocentesis needle with improved sonographic visibility
US5720928A (en) * 1988-09-15 1998-02-24 New York University Image processing and analysis of individual nucleic acid molecules
CA2006596C (en) 1988-12-22 2000-09-05 Rika Ishikawa Chemically-modified g-csf
US5075212A (en) 1989-03-27 1991-12-24 University Of Patents, Inc. Methods of detecting picornaviruses in biological fluids and tissues
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
US5800992A (en) * 1989-06-07 1998-09-01 Fodor; Stephen P.A. Method of detecting nucleic acids
US5766849A (en) * 1989-07-11 1998-06-16 Gen-Probe Incorporated Methods of amplifying nucleic acids using promoter-containing primer sequence
GB2236186B (en) * 1989-08-22 1994-01-05 Finnigan Mat Gmbh Process and device for laser desorption of analyte molecular ions, especially of biomolecules
ES2127458T3 (es) 1989-11-06 1999-04-16 Cell Genesys Inc Produccion de proteinas utilizando recombinacion homologa.
US5641628A (en) * 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
US5272071A (en) 1989-12-22 1993-12-21 Applied Research Systems Ars Holding N.V. Method for the modification of the expression characteristics of an endogenous gene of a given cell line
JPH05503423A (ja) * 1990-01-12 1993-06-10 スクリップス クリニック アンド リサーチ ファウンデーション Dna切断用核酸酵素
US6013431A (en) * 1990-02-16 2000-01-11 Molecular Tool, Inc. Method for determining specific nucleotide variations by primer extension in the presence of mixture of labeled nucleotides and terminators
US5321131A (en) * 1990-03-08 1994-06-14 Hybridon, Inc. Site-specific functionalization of oligodeoxynucleotides for non-radioactive labelling
US5210015A (en) * 1990-08-06 1993-05-11 Hoffman-La Roche Inc. Homogeneous assay system using the nuclease activity of a nucleic acid polymerase
US6004744A (en) 1991-03-05 1999-12-21 Molecular Tool, Inc. Method for determining nucleotide identity through extension of immobilized primer
DK51092D0 (da) 1991-05-24 1992-04-15 Ole Buchardt Oligonucleotid-analoge betegnet pna, monomere synthoner og fremgangsmaade til fremstilling deraf samt anvendelser deraf
US5719262A (en) * 1993-11-22 1998-02-17 Buchardt, Deceased; Ole Peptide nucleic acids having amino acid side chains
DE4214112A1 (de) * 1991-08-02 1993-02-04 Europ Lab Molekularbiolog Neues verfahren zur sequenzierung von nukleinsaeuren
US5700922A (en) 1991-12-24 1997-12-23 Isis Pharmaceuticals, Inc. PNA-DNA-PNA chimeric macromolecules
EP0552108B1 (en) * 1992-01-17 1999-11-10 Lakowicz, Joseph R. Energy transfer phase-modulation fluoro-immunoassay
GB9208733D0 (en) 1992-04-22 1992-06-10 Medical Res Council Dna sequencing method
GB9211979D0 (en) * 1992-06-05 1992-07-15 Buchard Ole Uses of nucleic acid analogues
RU95104940A (ru) * 1992-07-27 1997-01-10 Хайбрайдон Способ введения в олигонуклеотид алкилфосфонотиоатной или арилфосфонотиоатной межнуклеотидной связи, способ получения олигонуклеотида, олигонуклеотиды, способ ингибирования генной экспрессии, способ лечения
WO1994010300A1 (en) 1992-10-30 1994-05-11 The General Hospital Corporation Interaction trap system for isolating novel proteins
US6194144B1 (en) * 1993-01-07 2001-02-27 Sequenom, Inc. DNA sequencing by mass spectrometry
US5605798A (en) 1993-01-07 1997-02-25 Sequenom, Inc. DNA diagnostic based on mass spectrometry
ATE267877T1 (de) 1993-01-07 2004-06-15 Sequenom Inc Dns - sequenzierung durch massenspektronomie
CA2154358A1 (en) * 1993-01-21 1994-08-04 Hybridon, Inc. Integrated oligonucleotides
US6045996A (en) * 1993-10-26 2000-04-04 Affymetrix, Inc. Hybridization assays on oligonucleotide arrays
US6156501A (en) 1993-10-26 2000-12-05 Affymetrix, Inc. Arrays of modified nucleic acid probes and methods of use
JPH09505397A (ja) 1993-11-17 1997-05-27 アマーシャム・インターナショナル・ピーエルシー プライマー伸長質量分光分析による核酸配列決定法
JP3175110B2 (ja) 1994-02-07 2001-06-11 オーキッド・バイオサイエンシーズ・インコーポレイテッド リガーゼ/ポリメラーゼ媒体された単一ヌクレオチド多型のジェネティックビットアナリシスおよび遺伝子解析におけるその使用
US5637684A (en) * 1994-02-23 1997-06-10 Isis Pharmaceuticals, Inc. Phosphoramidate and phosphorothioamidate oligomeric compounds
US5851770A (en) 1994-04-25 1998-12-22 Variagenics, Inc. Detection of mismatches by resolvase cleavage using a magnetic bead support
ATE248224T1 (de) 1994-04-25 2003-09-15 Avitech Diagnostics Inc Die bestimmung von mutationen durch spaltung mit resolvase
US5834189A (en) 1994-07-08 1998-11-10 Visible Genetics Inc. Method for evaluation of polymorphic genetic sequences, and the use thereof in identification of HLA types
DK0773991T3 (da) * 1994-07-15 2004-10-25 Cephalon Inc Aktivt calpain udtrykt i baculovirus
US5589330A (en) 1994-07-28 1996-12-31 Genzyme Corporation High-throughput screening method for sequence or genetic alterations in nucleic acids using elution and sequencing of complementary oligonucleotides
US5849483A (en) 1994-07-28 1998-12-15 Ig Laboratories, Inc. High throughput screening method for sequences or genetic alterations in nucleic acids
US5662813A (en) * 1994-10-21 1997-09-02 Bioseparations, Inc. Method for separation of nucleated fetal erythrocytes from maternal blood samples
US5807718A (en) 1994-12-02 1998-09-15 The Scripps Research Institute Enzymatic DNA molecules
US6297028B1 (en) 1995-01-09 2001-10-02 Boehringer Ingelheim International Gmbh IL-2R-associated polypeptide and DNA molecules coding therefor
US6239273B1 (en) * 1995-02-27 2001-05-29 Affymetrix, Inc. Printing molecular library arrays
DE19515552A1 (de) 1995-04-27 1996-10-31 Europ Lab Molekularbiolog Simultane Sequenzierung von Nukleinsäuren
US6140482A (en) 1995-06-01 2000-10-31 Hybridon, Inc. Primary phosphoramidate internucleoside linkages and oligonucleotides containing the same
US5614622A (en) * 1995-06-01 1997-03-25 Hybridon, Inc. 5-pentenoyl moiety as a nucleoside-amino protecting group, 4-pentenoyl-protected nucleotide synthons, and related oligonucleotide syntheses
US5962674A (en) 1995-06-01 1999-10-05 Hybridon, Inc. Synthesis of oligonucleotides containing alkylphosphonate internucleoside linkages
US5955599A (en) 1995-06-01 1999-09-21 Hybridon, Inc. Process for making oligonucleotides containing o- and s- methylphosphotriester internucleoside linkages
US5981186A (en) 1995-06-30 1999-11-09 Visible Genetics, Inc. Method and apparatus for DNA-sequencing using reduced number of sequencing mixtures
US5637683A (en) * 1995-07-13 1997-06-10 Cornell Research Foundation, Inc. Nucleic acid analog with amide linkage and method of making that analog
US5652356A (en) * 1995-08-17 1997-07-29 Hybridon, Inc. Inverted chimeric and hybrid oligonucleotides
JP3193301B2 (ja) * 1995-09-14 2001-07-30 麒麟麦酒株式会社 生理活性タンパク質p160
US5869242A (en) * 1995-09-18 1999-02-09 Myriad Genetics, Inc. Mass spectrometry to assess DNA sequence polymorphisms
GB9519638D0 (en) * 1995-09-26 1995-11-29 Dynal As Method
CA2248084A1 (en) 1996-03-04 1997-09-12 Genetrace Systems, Inc. Methods of screening nucleic acids using mass spectrometry
WO1997037041A2 (en) 1996-03-18 1997-10-09 Sequenom, Inc. Dna sequencing by mass spectrometry
US6759217B2 (en) 1996-03-26 2004-07-06 Oncomedx, Inc. Method enabling use of extracellular RNA extracted from plasma or serum to detect, monitor or evaluate cancer
WO1997035589A1 (en) 1996-03-26 1997-10-02 Kopreski Michael S Method enabling use of extracellular rna extracted from plasma or serum to detect, monitor or evaluate cancer
CA2253710A1 (en) * 1996-04-25 1997-10-30 Spectrametrix Inc. Analyte assay using particulate labels
US5928906A (en) * 1996-05-09 1999-07-27 Sequenom, Inc. Process for direct sequencing during template amplification
US5786146A (en) * 1996-06-03 1998-07-28 The Johns Hopkins University School Of Medicine Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguishing modified methylated and non-methylated nucleic acids
WO1997047761A1 (en) 1996-06-14 1997-12-18 Sarnoff Corporation Method for polynucleotide sequencing
AU4089397A (en) 1996-08-26 1998-03-19 Hybridon, Inc. Improved reagents and process for synthesis of oligonucleotides containing phosphorodithioate internucleoside linkages
US5849546A (en) 1996-09-13 1998-12-15 Epicentre Technologies Corporation Methods for using mutant RNA polymerases with reduced discrimination between non-canonical and canonical nucleoside triphosphates
US5886165A (en) * 1996-09-24 1999-03-23 Hybridon, Inc. Mixed backbone antisense oligonucleotides containing 2'-5'-ribonucleotide- and 3'-5'-deoxyribonucleotides segments
GB9620209D0 (en) * 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
US6057134A (en) 1996-10-07 2000-05-02 Ambion, Inc. Modulating the efficiency of nucleic acid amplification reactions with 3' modified oligonucleotides
US6024925A (en) 1997-01-23 2000-02-15 Sequenom, Inc. Systems and methods for preparing low volume analyte array elements
ATE259056T1 (de) 1996-11-06 2004-02-15 Sequenom Inc Verfahren zur massenspektrometrie
US7285422B1 (en) * 1997-01-23 2007-10-23 Sequenom, Inc. Systems and methods for preparing and analyzing low volume analyte array elements
US6140053A (en) 1996-11-06 2000-10-31 Sequenom, Inc. DNA sequencing by mass spectrometry via exonuclease degradation
DE69719220T2 (de) 1996-11-18 2004-01-22 Takeshi Imanishi Neue nucleotidanaloga
US6017702A (en) * 1996-12-05 2000-01-25 The Perkin-Elmer Corporation Chain-termination type nucleic acid sequencing method including 2'-deoxyuridine-5'-triphosphate
US5876934A (en) * 1996-12-18 1999-03-02 Pharmacia Biotech Inc. DNA sequencing method
US6046005A (en) * 1997-01-15 2000-04-04 Incyte Pharmaceuticals, Inc. Nucleic acid sequencing with solid phase capturable terminators comprising a cleavable linking group
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
JP3756313B2 (ja) 1997-03-07 2006-03-15 武 今西 新規ビシクロヌクレオシド及びオリゴヌクレオチド類縁体
US5849497A (en) 1997-04-03 1998-12-15 The Research Foundation Of State University Of New York Specific inhibition of the polymerase chain reaction using a non-extendable oligonucleotide blocker
US6143496A (en) 1997-04-17 2000-11-07 Cytonix Corporation Method of sampling, amplifying and quantifying segment of nucleic acid, polymerase chain reaction assembly having nanoliter-sized sample chambers, and method of filling assembly
US5739314A (en) * 1997-04-25 1998-04-14 Hybridon, Inc. Method for synthesizing 2'-O-substituted pyrimidine nucleosides
DK0920539T3 (da) 1997-05-30 2006-07-24 Xenomics Fremgangsmåder til detektion af nukleinsyresekvenser i urin
JP2001511529A (ja) * 1997-07-25 2001-08-14 アフィメトリックス インコーポレイテッド バイオインフォマティクスデータベースを提供するための方法および装置
US6223127B1 (en) * 1997-08-15 2001-04-24 Affymetrix, Inc. Polymorphism detection utilizing clustering analysis
DE19754482A1 (de) * 1997-11-27 1999-07-01 Epigenomics Gmbh Verfahren zur Herstellung komplexer DNA-Methylierungs-Fingerabdrücke
US5998143A (en) 1997-12-05 1999-12-07 The Perkin-Elmer Corporation Cycle sequencing thermal profiles
WO1999040222A1 (en) 1998-02-04 1999-08-12 Variagenics, Inc. Mismatch detection techniques
SG71920A1 (en) * 1998-04-27 2000-04-18 Texas Instruments Inc Method and apparatus for driving a polyphase brushless dc motor
US6183958B1 (en) * 1998-05-06 2001-02-06 Variagenics, Inc. Probes for variance detection
US6723564B2 (en) 1998-05-07 2004-04-20 Sequenom, Inc. IR MALDI mass spectrometry of nucleic acids using liquid matrices
US20030022207A1 (en) * 1998-10-16 2003-01-30 Solexa, Ltd. Arrayed polynucleotides and their use in genome analysis
US6140054A (en) 1998-09-30 2000-10-31 University Of Utah Research Foundation Multiplex genotyping using fluorescent hybridization probes
US6610492B1 (en) 1998-10-01 2003-08-26 Variagenics, Inc. Base-modified nucleotides and cleavage of polynucleotides incorporating them
NO986133D0 (no) * 1998-12-23 1998-12-23 Preben Lexow FremgangsmÕte for DNA-sekvensering
US6142681A (en) 1999-02-22 2000-11-07 Vialogy Corporation Method and apparatus for interpreting hybridized bioelectronic DNA microarray patterns using self-scaling convergent reverberant dynamics
US6136541A (en) 1999-02-22 2000-10-24 Vialogy Corporation Method and apparatus for analyzing hybridized biochip patterns using resonance interactions employing quantum expressor functions
ES2269113T3 (es) 1999-03-24 2007-04-01 Exiqon A/S Sintesis mejorada de -2.2.1 / biciclo-nucleosidos.
US6368834B1 (en) * 1999-04-06 2002-04-09 Genome Technologies, Llc PCR genome walking with synthetic primer
EP1173622B1 (en) 1999-04-30 2005-06-15 Methexis Genomics N.V. Diagnostic sequencing by a combination of specific cleavage and mass spectrometry
KR20010001577A (ko) 1999-06-07 2001-01-05 윤종용 고분자 광산발생제를 이용한 올리고펩티드 핵산 탐침의 제조방법
DE60031540T2 (de) * 1999-06-28 2007-05-16 California Institute Of Technology, Pasadena Mikromechanische pump- und ventilsysteme
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
AU6629200A (en) 1999-08-25 2001-03-19 Philip P Garner Alpha-helical peptide nucleic acid alpha-pna
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
US6274320B1 (en) 1999-09-16 2001-08-14 Curagen Corporation Method of sequencing a nucleic acid
EP1257662A2 (en) 1999-10-06 2002-11-20 Amersham Biosciences Corp. Method for detecting mutations using arrayed primer extension
EP1235932A2 (en) 1999-10-08 2002-09-04 Protogene Laboratories, Inc. Method and apparatus for performing large numbers of reactions using array assembly
US6221600B1 (en) 1999-10-08 2001-04-24 Board Of Regents, The University Of Texas System Combinatorial oligonucleotide PCR: a method for rapid, global expression analysis
US6297016B1 (en) 1999-10-08 2001-10-02 Applera Corporation Template-dependent ligation with PNA-DNA chimeric probes
US7332275B2 (en) 1999-10-13 2008-02-19 Sequenom, Inc. Methods for detecting methylated nucleotides
US6709816B1 (en) 1999-10-18 2004-03-23 Affymetrix, Inc. Identification of alleles
ATE423221T1 (de) 2000-06-13 2009-03-15 Univ Boston Verwendung von mass-matched nukleotide in der analyse von oligonukleotidmischungen sowie in der hoch-multiplexen nukleinsäuresequenzierung
WO2002018616A1 (en) 2000-09-01 2002-03-07 Hitachi Chemical Co., Ltd. Adjusting the efficiency of nucleic acid template amplification by attenuated pcr with template-mimic oligonucleotides
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
US6929911B2 (en) 2000-11-01 2005-08-16 The Board Of Trustees Of The Leland Stanford Junior University Method for determining genetic affiliation, substructure and gene flow within human populations
US20060136142A1 (en) * 2000-11-02 2006-06-22 Kurt Berlin Systems, methods and computer program products for guiding selection of a therapeutic treatment regimen based on the methylation status of the DNA
DE10061348C2 (de) * 2000-12-06 2002-10-24 Epigenomics Ag Verfahren zur Quantifizierung von Cytosin-Methylierungen in komplex amplifizierter genomischer DNA
EP1229128A1 (en) * 2001-01-31 2002-08-07 Boehringer Mannheim Gmbh New method for genotype determination
DE10112515B4 (de) * 2001-03-09 2004-02-12 Epigenomics Ag Verfahren zum Nachweis von Cytosin-Methylierungsmustern mit hoher Sensitivität
WO2002086163A1 (en) 2001-04-20 2002-10-31 Karolinska Innovations Ab Methods for high throughput genome analysis using restriction site tagged microarrays
DE10130800B4 (de) * 2001-06-22 2005-06-23 Epigenomics Ag Verfahren zum Nachweis von Cytosin-Methylierung mit hoher Sensitivität
IL159482A0 (en) 2001-06-22 2004-06-01 Univ Geneve Method for detecting diseases caused by chromosomal imbalances
US20050037388A1 (en) * 2001-06-22 2005-02-17 University Of Geneva Method for detecting diseases caused by chromosomal imbalances
WO2003080645A2 (en) * 2001-07-01 2003-10-02 Keck Graduate Institute Amplification of nucleic acid fragments using nicking agents
DK1421215T3 (da) * 2001-07-25 2011-06-27 Oncomedx Inc Fremgangsmåder til evaluering af patologiske tilstande under anvendelse af ekstracellulært RNA
CN1633505A (zh) * 2001-08-20 2005-06-29 宝生物工程株式会社 核酸扩增方法
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
DE10201138B4 (de) * 2002-01-08 2005-03-10 Epigenomics Ag Verfahren zum Nachweis von Cytosin-Methylierungsmustern durch exponentielle Ligation hybridisierter Sondenoligonukleotide (MLA)
CA2477611A1 (en) 2002-03-01 2003-09-12 Ravgen, Inc. Rapid analysis of variations in a genome
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
DE60310697D1 (de) 2002-03-15 2007-02-08 Epigenomics Ag Entdeckungs- und diagnoseverfahren mit 5-methylcytosin-dna-glycosylase
US6908755B2 (en) * 2002-03-21 2005-06-21 Ken-Shwo Dai Human megakaryocyte-associated tyrosine kinase (MATK)-related gene variant associated with lung cancers
AU2003227544A1 (en) 2002-03-25 2003-10-08 Epigenomics Ag Method for the analysis of methylation patterns within nucleic acids by means of mass spectrometry
US7081339B2 (en) 2002-04-12 2006-07-25 Primera Biosystems, Inc. Methods for variation detection
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US20030211483A1 (en) * 2002-05-09 2003-11-13 Schroeder Benjamin G. Methods for the enrichment of low-abundance polynucleotides
WO2004013284A2 (en) 2002-08-02 2004-02-12 Tufts University A method to assess genomic dna methylation using high-performance liquid chromatography-electospray ionization mass spectrometry
WO2004022721A2 (en) * 2002-09-06 2004-03-18 The Trustees Of Boston University Quantification of gene expression
CA2507189C (en) * 2002-11-27 2018-06-12 Sequenom, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
AU2004205774B2 (en) 2003-01-17 2006-12-14 The Chinese University Of Hong Kong Circulating mRNA as diagnostic markers for pregnancy-related disorders
AU2004209426B2 (en) 2003-01-29 2008-04-17 454 Life Sciences Corporation Method for preparing single-stranded DNA libraries
AU2003900944A0 (en) 2003-02-28 2003-03-13 The University Of Queensland Cell isolation & enrichment
SG173221A1 (en) 2003-02-28 2011-08-29 Ravgen Inc Methods for detection of genetic disorders
AU2004217872B2 (en) 2003-03-05 2010-03-25 Genetic Technologies Limited Identification of fetal DNA and fetal cell markers in maternal plasma or serum
US20050009059A1 (en) 2003-05-07 2005-01-13 Affymetrix, Inc. Analysis of methylation status using oligonucleotide arrays
EP1641809B2 (en) * 2003-07-05 2018-10-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
ATE425265T1 (de) 2003-07-31 2009-03-15 Sequenom Inc Verfahren für multiplex- polymerasekettenreaktionen auf hohem niveau und homogenen massenverlängerungsreaktionen zur genotypisierung von polymorphismen
WO2005021793A1 (en) 2003-08-29 2005-03-10 Pantarhei Bioscience B.V. Prenatal diagnosis of down syndrome by detection of fetal rna markers in maternal blood
EP1664077B1 (en) 2003-09-05 2016-04-13 Trustees of Boston University Method for non-invasive prenatal diagnosis
JP5013869B2 (ja) * 2003-09-22 2012-08-29 トリソゲン バイオテクノロジー リミテッド パートナーシップ 遺伝子座コピー数の変化を検出するのに有用な方法およびキット
WO2005035725A2 (en) 2003-10-08 2005-04-21 The Trustees Of Boston University Methods for prenatal diagnosis of chromosomal abnormalities
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
CA2542542C (en) 2003-10-21 2015-09-15 Orion Genomics Llc Method of detecting a quantity of methylation at a locus
WO2005044086A2 (en) 2003-10-30 2005-05-19 Tufts-New England Medical Center Prenatal diagnosis using cell-free fetal dna in amniotic fluid
US20070111233A1 (en) * 2003-10-30 2007-05-17 Bianchi Diana W Prenatal diagnosis using cell-free fetal DNA in amniotic fluid
EP1721014B1 (en) * 2004-02-18 2013-07-17 Trustees Of Boston University Method for detecting and quantifying rare mutations/polymorphisms
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
JP4492156B2 (ja) 2004-03-03 2010-06-30 ニプロ株式会社 血清アルブミンドメインを含む蛋白質
US7608394B2 (en) 2004-03-26 2009-10-27 Sequenom, Inc. Methods and compositions for phenotype identification based on nucleic acid methylation
EP1727911B1 (en) 2004-03-26 2013-01-23 Sequenom, Inc. Base specific cleavage of methylation-specific amplification products in combination with mass analysis
US7468249B2 (en) 2004-05-05 2008-12-23 Biocept, Inc. Detection of chromosomal disorders
EP1765994B1 (en) 2004-06-01 2009-11-18 The University of North Carolina at Chapel Hill Reconstituted histone methyltransferase complex and methods of identifying modulators thereof
US7709194B2 (en) * 2004-06-04 2010-05-04 The Chinese University Of Hong Kong Marker for prenatal diagnosis and monitoring
EP1794321A2 (en) 2004-07-30 2007-06-13 Whitehead Institute For Biomedical Research Markers of alterations in the y chromosome and uses therefor
CA2591926A1 (en) * 2004-09-20 2006-03-30 Proteogenix, Inc. Diagnosis of fetal aneuploidy
US7415644B2 (en) 2004-10-22 2008-08-19 International Business Machines Corporation Self-repairing of microprocessor array structures
CN101243191B (zh) 2004-11-29 2014-04-16 塞昆纳姆股份有限公司 用于检测甲基化dna的手段和方法
AU2005308916B2 (en) 2004-11-29 2011-07-21 Sequenom, Inc. Kits and methods for detecting methylated DNA
TWI367260B (en) 2005-03-18 2012-07-01 Univ Hong Kong Chinese Method for detecting the presence of a fetus with trisomy 21 in a pregnant woman and kit thereof
EP1859050B1 (en) 2005-03-18 2012-10-24 The Chinese University Of Hong Kong A method for the detection of chromosomal aneuploidies
US20070048755A1 (en) * 2005-03-22 2007-03-01 New York University Assay for determining the sex of primates
WO2007016668A2 (en) 2005-08-02 2007-02-08 Sequenom, Inc. Methods and compositions for disease prognosis based on nucleic acid methylation
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
EP2385143B1 (en) 2006-02-02 2016-07-13 The Board of Trustees of the Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
SI2351858T1 (sl) * 2006-02-28 2015-06-30 University Of Louisville Research Foundation Med Center Three, Zaznavanje fetalnih kromosomskih nenormalnosti z uporabo tandema polimorfizmov posameznih nukleotidov
US20090203002A1 (en) * 2006-03-06 2009-08-13 Columbia University Mesenchymal stem cells as a vehicle for ion channel transfer in syncytial structures
WO2007121276A2 (en) 2006-04-12 2007-10-25 Biocept, Inc. Enrichment of circulating fetal dna
US8679741B2 (en) 2006-05-31 2014-03-25 Sequenom, Inc. Methods and compositions for the extraction and amplification of nucleic acid from a sample
WO2007147074A2 (en) * 2006-06-14 2007-12-21 Living Microsystems, Inc. Use of highly parallel snp genotyping for fetal diagnosis
EP2038426A2 (en) * 2006-06-16 2009-03-25 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
US8133701B2 (en) 2006-12-05 2012-03-13 Sequenom, Inc. Detection and quantification of biomolecules using mass spectrometry
US7902345B2 (en) * 2006-12-05 2011-03-08 Sequenom, Inc. Detection and quantification of biomolecules using mass spectrometry
US8262900B2 (en) * 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
AU2008213634B2 (en) 2007-02-08 2013-09-05 Sequenom, Inc. Nucleic acid-based tests for RhD typing, gender determination and nucleic acid quantification
WO2008103763A2 (en) 2007-02-20 2008-08-28 Sequenom, Inc. Methods and compositions for cancer diagnosis and treatment based on nucleic acid methylation
GB0703996D0 (en) 2007-03-01 2007-04-11 Oxitec Ltd Nucleic acid detection
AU2008230813B2 (en) 2007-03-26 2014-01-30 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
WO2008157264A2 (en) 2007-06-15 2008-12-24 Sequenom, Inc. Combined methods for the detection of chromosomal aneuploidy
CN106834481A (zh) * 2007-07-23 2017-06-13 香港中文大学 用于分析遗传变异的方法
US9404150B2 (en) 2007-08-29 2016-08-02 Sequenom, Inc. Methods and compositions for universal size-specific PCR
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
US8748100B2 (en) 2007-08-30 2014-06-10 The Chinese University Of Hong Kong Methods and kits for selectively amplifying, detecting or quantifying target DNA with specific end sequences
AU2008302040A1 (en) * 2007-09-21 2009-03-26 Novartis Ag Identification and isolation of fetal cells and nucleic acid
EP2207896B1 (en) * 2007-10-04 2014-01-29 Commonwealth Scientific and Industrial Research Organisation Nucleic acid amplification
WO2009046445A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
US8093063B2 (en) * 2007-11-29 2012-01-10 Quest Diagnostics Investments Incorporated Assay for detecting genetic abnormalities in genomic nucleic acids
EP2620511B1 (en) 2008-01-17 2018-02-28 Sequenom, Inc. Single molecule nucleic acid sequence analysis processes
CA2717320A1 (en) 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
CN102245760A (zh) 2008-07-07 2011-11-16 牛津纳米孔技术有限公司 酶-孔构建体
EP2321642B1 (en) 2008-08-04 2017-01-11 Natera, Inc. Methods for allele calling and ploidy calling
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US8962247B2 (en) 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
CA3209502A1 (en) 2008-09-16 2010-03-25 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
ES2620294T3 (es) 2008-09-20 2017-06-28 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
US20100240054A1 (en) 2008-09-22 2010-09-23 Biocept, Inc. Identification and isolation of fetal cells and nucleic acid
CN102301002A (zh) 2008-11-12 2011-12-28 卡里斯生命科学卢森堡控股有限责任公司 使用外来体来确定表现型的方法和系统
WO2010065470A2 (en) 2008-12-01 2010-06-10 Consumer Genetics, Inc. Compositions and methods for detecting background male dna during fetal sex determination
WO2010107946A2 (en) 2009-03-18 2010-09-23 Sequenom, Inc. Use of thermostable endonucleases for generating reporter molecules
US8771948B2 (en) 2009-04-03 2014-07-08 Sequenom, Inc. Nucleic acid preparation compositions and methods
US8211735B2 (en) * 2009-06-08 2012-07-03 International Business Machines Corporation Nano/microwire solar cell fabricated by nano/microsphere lithography
US8563242B2 (en) 2009-08-11 2013-10-22 The Chinese University Of Hong Kong Method for detecting chromosomal aneuploidy
AU2015252141A1 (en) 2009-09-16 2015-12-03 Sequenom Center For Molecular Medicine Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
EP2496717B1 (en) 2009-11-05 2017-06-07 The Chinese University of Hong Kong Fetal genomic analysis from a maternal biological sample
ES3026544T3 (en) 2009-11-06 2025-06-11 Univ Hong Kong Chinese Size-based genomic analysis for prenatal diagnosis
US9926593B2 (en) 2009-12-22 2018-03-27 Sequenom, Inc. Processes and kits for identifying aneuploidy
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
AU2010343276B2 (en) 2010-01-19 2015-05-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
EA023565B1 (ru) 2010-01-26 2016-06-30 ЭнАйПиДи ДЖЕНЕТИКС ЛТД. Способы и композиции для неинвазивной пренатальной диагностики анеуплоидии плода
US8940487B2 (en) 2010-02-09 2015-01-27 UmiTaq Bio Methods and compositions for universal detection of nucleic acids
WO2011143659A2 (en) 2010-05-14 2011-11-17 Fluidigm Corporation Nucleic acid isolation methods
EP2569447A4 (en) 2010-05-14 2013-11-27 Fluidigm Corp ASSAYS FOR THE DETECTION OF GENOTYPES, MUTATIONS OR ANEUPLOIDY
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US8603742B2 (en) 2010-07-06 2013-12-10 University of Pittsburgh—of the Commonwealth System of Higher Education Methods for the diagnosis of fetal disease
EP2596127A2 (en) 2010-07-23 2013-05-29 Esoterix Genetic Laboratories, LLC Identification of differentially represented fetal or maternal genomic regions and uses thereof
CN103384725A (zh) 2010-12-23 2013-11-06 塞昆纳姆股份有限公司 胎儿遗传变异的检测
US20120219950A1 (en) 2011-02-28 2012-08-30 Arnold Oliphant Assay systems for detection of aneuploidy and sex determination
US8455221B2 (en) 2011-04-29 2013-06-04 Sequenom, Inc. Quantification of a minority nucleic acid species
WO2013019361A1 (en) 2011-07-07 2013-02-07 Life Technologies Corporation Sequencing methods
WO2013052913A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK2766496T3 (en) 2011-10-11 2017-05-15 Sequenom Inc METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS
HK1206055A1 (en) 2012-03-02 2015-12-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
EP2852680B1 (en) 2012-05-21 2019-12-25 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013176958A1 (en) 2012-05-21 2013-11-28 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
WO2014011928A1 (en) 2012-07-13 2014-01-16 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
EP2971100A1 (en) 2013-03-13 2016-01-20 Sequenom, Inc. Primers for dna methylation analysis
EP3736344A1 (en) 2014-03-13 2020-11-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN106544407B (zh) 2015-09-18 2019-11-08 广州华大基因医学检验所有限公司 确定受体cfDNA样本中供体来源cfDNA比例的方法
JP6447765B1 (ja) 2017-11-21 2019-01-09 株式会社リコー 検査デバイス及びデバイス

Patent Citations (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2003062441A1 (en) * 2002-01-18 2003-07-31 Genzyme Corporation Methods for fetal dna detection and allele quantitation
WO2007132166A2 (en) * 2006-05-03 2007-11-22 The Chinese University Of Hong Kong New fetal methylation markers
US20070275402A1 (en) * 2006-05-03 2007-11-29 The Chinese University Of Hong Kong Novel markers for prenatal diagnosis and monitoring

Cited By (22)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN107223159A (zh) * 2014-05-09 2017-09-29 科戴克斯生命股份公司 源自特定细胞类型的dna的检测及相关方法
US11965207B2 (en) 2014-05-09 2024-04-23 Eurofins Lifecodexx Gmbh Detection of DNA that originates from a specific cell-type and related methods
US11773443B2 (en) 2014-05-09 2023-10-03 Eurofins Lifecodexx Gmbh Multiplex detection of DNA that originates from a specific cell-type
US11352670B2 (en) 2014-07-25 2022-06-07 University Of Washington Methods of determining tissues and/or cell types giving rise to cell-free DNA, and methods of identifying a disease or disorder using same
CN107002122A (zh) * 2014-07-25 2017-08-01 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
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
CN109689896A (zh) * 2015-11-10 2019-04-26 科戴克斯生命股份公司 使用在胎儿和怀孕雌性动物之间差异甲基化的dna区域检测胎儿染色体非整倍性
US11753684B2 (en) 2015-11-10 2023-09-12 Eurofins Lifecodexx Gmbh Detection of fetal chromosomal aneuploidies using DNA regions that are differentially methylated between the fetus and the pregnant female
CN109890984A (zh) * 2016-10-19 2019-06-14 香港中文大学 通过母体血浆dna的甲基化和大小谱分析进行胎龄评估
WO2018072705A1 (en) * 2016-10-19 2018-04-26 The Chinese University Of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma dna
CN109890984B (zh) * 2016-10-19 2024-03-29 香港中文大学 通过母体血浆dna的甲基化和大小谱分析进行胎龄评估
US11512306B2 (en) 2016-10-19 2022-11-29 The Chinese University Of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma DNA
CN110325650A (zh) * 2016-12-22 2019-10-11 夸登特健康公司 用于分析核酸分子的方法和系统
US11952616B2 (en) 2016-12-22 2024-04-09 Guardant Health, Inc. Methods and systems for analyzing nucleic acid molecules
US12312634B2 (en) 2016-12-22 2025-05-27 Guardant Health, Inc. Methods and systems for analyzing nucleic acid molecules
US12359245B2 (en) 2016-12-22 2025-07-15 Guardant Health, Inc. Methods and systems for analyzing nucleic acid molecules
US12428670B2 (en) 2016-12-22 2025-09-30 Guardant Health, Inc. Methods and systems for analyzing nucleic acid molecules
CN107451419B (zh) * 2017-07-14 2020-01-24 浙江大学 通过计算机程序模拟产生简化dna甲基化测序数据的方法
CN107451419A (zh) * 2017-07-14 2017-12-08 浙江大学 一种通过计算机程序模拟产生简化dna甲基化测序数据的方法
CN111065746A (zh) * 2018-03-19 2020-04-24 伊鲁米纳公司 用于用重组核酸酶选择性切割核酸的方法和组合物
CN111593119A (zh) * 2020-06-28 2020-08-28 成都市妇女儿童中心医院 用于检测母体血液中胎儿游离DNA β-地中海贫血突变的探针及试剂盒
CN113061653A (zh) * 2021-05-07 2021-07-02 济南国科医工科技发展有限公司 用于产前无创检测21三体综合征的pcr扩增组合物及检测试剂盒

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