JP2016540520A5 - - Google Patents

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JP2016540520A5
JP2016540520A5 JP2016546892A JP2016546892A JP2016540520A5 JP 2016540520 A5 JP2016540520 A5 JP 2016540520A5 JP 2016546892 A JP2016546892 A JP 2016546892A JP 2016546892 A JP2016546892 A JP 2016546892A JP 2016540520 A5 JP2016540520 A5 JP 2016540520A5
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JP2016546892A 2013-10-07 2014-10-03 染色体変化の非侵襲性評価のための方法およびプロセス Active JP6680680B2 (ja)

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US201361887801P 2013-10-07 2013-10-07
US61/887,801 2013-10-07
PCT/US2014/059156 WO2015054080A1 (en) 2013-10-07 2014-10-03 Methods and processes for non-invasive assessment of chromosome alterations

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JP2016540520A JP2016540520A (ja) 2016-12-28
JP2016540520A5 true JP2016540520A5 (ja) 2017-03-23
JP6680680B2 JP6680680B2 (ja) 2020-04-15

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JP2016546892A Active JP6680680B2 (ja) 2013-10-07 2014-10-03 染色体変化の非侵襲性評価のための方法およびプロセス
JP2020048765A Pending JP2020110173A (ja) 2013-10-07 2020-03-19 染色体変化の非侵襲性評価のための方法およびプロセス
JP2022173202A Pending JP2022191522A (ja) 2013-10-07 2022-10-28 染色体変化の非侵襲性評価のための方法およびプロセス

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JP2022173202A Pending JP2022191522A (ja) 2013-10-07 2022-10-28 染色体変化の非侵襲性評価のための方法およびプロセス

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US (2) US10438691B2 (ja)
EP (3) EP3495496B1 (ja)
JP (3) JP6680680B2 (ja)
CN (2) CN105874082B (ja)
AU (2) AU2014332241B2 (ja)
CA (1) CA2925111C (ja)
WO (1) WO2015054080A1 (ja)

Families Citing this family (46)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TWI335354B (en) 2006-09-27 2011-01-01 Univ Hong Kong Chinese Methods for the detection of the degree of the methylation of a target dna and kits
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
CA2850785C (en) 2011-10-06 2022-12-13 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
US10196681B2 (en) 2011-10-06 2019-02-05 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
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
ES2929923T3 (es) 2012-01-20 2022-12-02 Sequenom Inc Procesos de diagnóstico que condicionan las condiciones experimentales
US10504613B2 (en) 2012-12-20 2019-12-10 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
US10497461B2 (en) 2012-06-22 2019-12-03 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
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
PL2981921T3 (pl) 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
EP3004383B1 (en) 2013-05-24 2019-04-24 Sequenom, Inc. Methods for non-invasive assessment of genetic variations using area-under-curve (auc) analysis
AU2014284180B2 (en) 2013-06-21 2020-03-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2015051163A2 (en) 2013-10-04 2015-04-09 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2925111C (en) 2013-10-07 2024-01-16 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
IL305462A (en) 2015-07-23 2023-10-01 Univ Hong Kong Chinese DNA fragmentation pattern analysis suitable clean
US20170342477A1 (en) 2016-05-27 2017-11-30 Sequenom, Inc. Methods for Detecting Genetic Variations
EP3491561A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
WO2018022890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
ES2962513T3 (es) * 2016-10-05 2024-03-19 Hoffmann La Roche Secuenciación de ácido nucleico usando nanotransistores
WO2018136881A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Sequencing adapter manufacture and use
CA3198931A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
WO2018136882A1 (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
TWI803477B (zh) 2017-01-25 2023-06-01 香港中文大學 使用核酸片段之診斷應用
WO2018152542A1 (en) * 2017-02-17 2018-08-23 The Board Of Trustees Of The Leland Stanford Junior University Accurate and sensitive unveiling of chimeric biomolecule sequences and applications thereof
CN106834490B (zh) 2017-03-02 2021-01-22 上海亿康医学检验所有限公司 一种鉴定胚胎平衡易位断裂点和平衡易位携带状态的方法
PT3596233T (pt) 2017-03-17 2022-08-22 Sequenom Inc Métodos e processos para avaliação de mosaicismo genético
WO2018183745A1 (en) * 2017-03-30 2018-10-04 Illumina, Inc. Genomic data analysis system and method
US11728007B2 (en) * 2017-11-30 2023-08-15 Grail, Llc Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly
TW202020165A (zh) 2018-06-29 2020-06-01 美商格瑞爾公司 核酸重組及整合分析
EP3844760A1 (en) * 2018-08-31 2021-07-07 Guardant Health, Inc. Genetic variant detection based on merged and unmerged reads
NZ788335A (en) 2019-08-16 2023-02-24 Univ Hong Kong Chinese Determination of base modifications of nucleic acids
JP2022553829A (ja) 2019-10-31 2022-12-26 セクエノム, インコーポレイテッド 多胎児妊娠およびパーソナライズされたリスク評価におけるモザイク現象比の適用
US20230132281A1 (en) * 2020-02-14 2023-04-27 Rhode Island Hospital Rna sequencing to diagnose sepsis
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN111584003B (zh) * 2020-04-10 2022-05-10 中国人民解放军海军军医大学 病毒序列整合的优化检测方法
CN111785324B (zh) * 2020-07-02 2021-02-02 深圳市海普洛斯生物科技有限公司 一种微卫星不稳定分析方法及装置
CN111815614B (zh) * 2020-07-17 2021-04-06 中国人民解放军军事科学院军事医学研究院 基于人工智能的寄生虫检测方法、系统及终端设备
CN113920069B (zh) * 2021-09-26 2022-07-08 广州达安临床检验中心有限公司 染色体核型分析模拟数据集的构建方法、构建装置、设备及存储介质

Family Cites Families (165)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
US5720928A (en) 1988-09-15 1998-02-24 New York University Image processing and analysis of individual nucleic acid molecules
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
US5641628A (en) 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
US5091652A (en) 1990-01-12 1992-02-25 The Regents Of The University Of California Laser excited confocal microscope fluorescence scanner and method
WO1991010741A1 (en) 1990-01-12 1991-07-25 Cell Genesys, Inc. Generation of xenogeneic antibodies
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
DE69532492T2 (de) 1994-08-31 2004-12-02 Mitsubishi Pharma Corp. Verfahren zur Reinigung von rekombinantem menschlichem Serumalbumin
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
ATE199571T1 (de) 1994-12-23 2001-03-15 Imperial College Automatisches sequenzierungs verfahren
US5795782A (en) 1995-03-17 1998-08-18 President & Fellows Of Harvard College Characterization of individual polymer molecules based on monomer-interface interactions
US5670325A (en) 1996-08-14 1997-09-23 Exact Laboratories, Inc. Method for the detection of clonal populations of transformed cells in a genomically heterogeneous cellular sample
IL126544A (en) 1996-04-25 2004-08-31 Genicon Sciences Inc Test for component detection using detectable particles in diffused light
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
US5928870A (en) 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US6403311B1 (en) 1997-02-12 2002-06-11 Us Genomics Methods of analyzing polymers using ordered label strategies
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6566101B1 (en) 1997-06-16 2003-05-20 Anthony P. Shuber Primer extension methods for detecting nucleic acids
US6570001B1 (en) 1997-06-20 2003-05-27 Institut Pasteur Polynucleotides and their use for detecting resistance to streptogramin A or to streptogramin B and related compounds
JP2002521064A (ja) 1998-07-30 2002-07-16 ソレックサ リミテッド アレイ生体分子およびシークエンシングにおけるその使用
US6263286B1 (en) 1998-08-13 2001-07-17 U.S. Genomics, Inc. Methods of analyzing polymers using a spatial network of fluorophores and fluorescence resonance energy transfer
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
DE19932890A1 (de) * 1999-07-19 2001-02-01 Deutsches Krebsforsch DNA zum Nachweis von Veränderungen des Chromosoms 8
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
WO2001018251A1 (en) 1999-09-07 2001-03-15 The Regents Of The University Of California Methods of determining the presence of double stranded nucleic acids in a sample
EP1218543A2 (en) 1999-09-29 2002-07-03 Solexa Ltd. Polynucleotide sequencing
EP1226255B1 (en) 1999-10-29 2006-03-29 Stratagene California Compositions and methods utilizing dna polymerases
WO2001062952A1 (en) 2000-02-24 2001-08-30 Dna Sciences, Inc. Methods for determining single nucleotide variations
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
US6936433B2 (en) 2000-11-27 2005-08-30 The Regents Of The University Of California Methods and devices for characterizing duplex nucleic acid molecules
DE10112515B4 (de) 2001-03-09 2004-02-12 Epigenomics Ag Verfahren zum Nachweis von Cytosin-Methylierungsmustern mit hoher Sensitivität
EP1368497A4 (en) 2001-03-12 2007-08-15 California Inst Of Techn METHOD AND DEVICE FOR ANALYZING POLYNUCLEOTIDE SEQUENCES BY ASYNCHRONOUS BASE EXTENSION
WO2003000920A2 (en) 2001-06-21 2003-01-03 President And Fellows Of Harvard College Methods for characterization of nucleic acid molecules
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
US20030157489A1 (en) 2002-01-11 2003-08-21 Michael Wall Recursive categorical sequence assembly
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
WO2003078593A2 (en) 2002-03-15 2003-09-25 Epigenomics Ag Discovery and diagnostic methods using 5-methylcytosine dna glycosylase
US20040110208A1 (en) 2002-03-26 2004-06-10 Selena Chan Methods and device for DNA sequencing using surface enhanced Raman scattering (SERS)
US7744816B2 (en) 2002-05-01 2010-06-29 Intel Corporation Methods and device for biomolecule characterization
US7005264B2 (en) 2002-05-20 2006-02-28 Intel Corporation Method and apparatus for nucleic acid sequencing and identification
US20050019784A1 (en) 2002-05-20 2005-01-27 Xing Su Method and apparatus for nucleic acid sequencing and identification
US6952651B2 (en) 2002-06-17 2005-10-04 Intel Corporation Methods and apparatus for nucleic acid sequencing by signal stretching and data integration
CA2497988C (en) 2002-09-06 2011-03-29 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
US7629123B2 (en) * 2003-07-03 2009-12-08 University Of Medicine And Dentistry Of New Jersey Compositions and methods for diagnosing autism
EP1641809B2 (en) 2003-07-05 2018-10-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
WO2005017025A2 (en) 2003-08-15 2005-02-24 The President And Fellows Of Harvard College Study of polymer molecules and conformations with a nanopore
AU2004270220B2 (en) 2003-09-05 2009-03-05 The Chinese University Of Hong Kong Method for non-invasive prenatal diagnosis
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
US20050095599A1 (en) 2003-10-30 2005-05-05 Pittaro Richard J. Detection and identification of biopolymers using fluorescence quenching
US7169560B2 (en) 2003-11-12 2007-01-30 Helicos Biosciences Corporation Short cycle methods for sequencing polynucleotides
US20050147980A1 (en) 2003-12-30 2005-07-07 Intel Corporation Nucleic acid sequencing by Raman monitoring of uptake of nucleotides during molecular replication
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US7279337B2 (en) 2004-03-10 2007-10-09 Agilent Technologies, Inc. Method and apparatus for sequencing polymers through tunneling conductance variation detection
US7238485B2 (en) 2004-03-23 2007-07-03 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
CN101103357B (zh) 2004-08-13 2012-10-03 哈佛学院院长等 超高处理量光学-纳米孔dna读出平台
CA2589487C (en) 2004-11-29 2014-07-29 Klinikum Der Universitat Regensburg Means and methods for detecting methylated dna
AU2006224971B2 (en) 2005-03-18 2009-07-02 Boston University A method for the detection of chromosomal aneuploidies
WO2007065025A2 (en) 2005-11-29 2007-06-07 Wisconsin Alumni Research Foundation Method of dna analysis using micro/nanochannel
EP1953241A1 (en) 2005-11-29 2008-08-06 Olympus Corporation Method of analyzing change in primary structure of nucleic acid
EP3591068A1 (en) 2006-02-02 2020-01-08 The Board of Trustees of the Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
AU2007220991C1 (en) 2006-02-28 2013-08-15 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
JP5297207B2 (ja) 2006-03-10 2013-09-25 コーニンクレッカ フィリップス エレクトロニクス エヌ ヴィ スペクトル分析を介したdnaパターンの同定方法及びシステム
US7282337B1 (en) 2006-04-14 2007-10-16 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
US20090075252A1 (en) 2006-04-14 2009-03-19 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
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
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
WO2007147063A2 (en) 2006-06-16 2007-12-21 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
US20080081330A1 (en) 2006-09-28 2008-04-03 Helicos Biosciences Corporation Method and devices for analyzing small RNA molecules
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
EP1944273A1 (en) 2007-01-15 2008-07-16 Rockwool International A/S Process and apparatus for making mineral fibers
US8003319B2 (en) 2007-02-02 2011-08-23 International Business Machines Corporation Systems and methods for controlling position of charged polymer inside nanopore
EP2604344A3 (en) 2007-03-28 2014-07-16 BioNano Genomics, Inc. Methods of macromolecular analysis using nanochannel arrays
US20110005918A1 (en) 2007-04-04 2011-01-13 Akeson Mark A Compositions, devices, systems, and methods for using a nanopore
GB0713143D0 (en) 2007-07-06 2007-08-15 Ucl Business Plc Nucleic acid detection method
US20090029377A1 (en) 2007-07-23 2009-01-29 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
ATE549419T1 (de) 2007-08-29 2012-03-15 Sequenom Inc Verfahren und zusammensetzungen für die universelle grössenspezifische polymerasekettenreaktion
AU2008308457A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
US7767400B2 (en) 2008-02-03 2010-08-03 Helicos Biosciences Corporation Paired-end reads in sequencing by synthesis
CN101230403B (zh) * 2008-02-21 2010-12-29 浙江理工大学 解析染色体端粒g-末端序列的方法
AU2009223671B2 (en) 2008-03-11 2014-11-27 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
AU2009228312B2 (en) 2008-03-26 2015-05-21 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
EP2664677B1 (en) 2008-06-30 2018-05-30 BioNano Genomics, Inc. Methods for single-molecule whole genome analysis
CN103695530B (zh) 2008-07-07 2016-05-25 牛津纳米孔技术有限公司 酶-孔构建体
AU2009269792A1 (en) 2008-07-07 2010-01-14 Oxford Nanopore Technologies Limited Base-detecting pore
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
EP3103871B1 (en) 2008-09-16 2020-07-29 Sequenom, Inc. Processes for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for fetal nucleic acid quantification
CA3069081C (en) 2008-09-20 2023-05-23 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
EP2719774B8 (en) 2008-11-07 2020-04-22 Adaptive Biotechnologies Corporation Methods of monitoring conditions by sequence analysis
WO2010056728A1 (en) 2008-11-11 2010-05-20 Helicos Biosciences Corporation Nucleic acid encoding for multiplex analysis
CN104372080B (zh) 2008-11-18 2018-03-30 博纳基因技术有限公司 多核苷酸作图和测序
WO2010065470A2 (en) 2008-12-01 2010-06-10 Consumer Genetics, Inc. Compositions and methods for detecting background male dna during fetal sex determination
SG10201501804WA (en) 2008-12-22 2015-05-28 Celula Inc Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
ES2403312T3 (es) 2009-01-13 2013-05-17 Keygene N.V. Nuevas estrategias para la secuenciación del genoma
US8455260B2 (en) 2009-03-27 2013-06-04 Massachusetts Institute Of Technology Tagged-fragment map assembly
EP3211095B1 (en) 2009-04-03 2019-01-02 Sequenom, Inc. Nucleic acid preparation compositions and methods
US8246799B2 (en) 2009-05-28 2012-08-21 Nabsys, Inc. Devices and methods for analyzing biomolecules and probes bound thereto
US20100330557A1 (en) 2009-06-30 2010-12-30 Zohar Yakhini Genomic coordinate system
US20120192298A1 (en) 2009-07-24 2012-07-26 Sigma Aldrich Co. Llc Method for genome editing
CN102858985A (zh) * 2009-07-24 2013-01-02 西格马-奥尔德里奇有限责任公司 基因组编辑方法
WO2011038327A1 (en) 2009-09-28 2011-03-31 Bionanomatrix, Inc. Nanochannel arrays and near-field illumination devices for polymer analysis and related methods
EP2491138A1 (en) 2009-10-21 2012-08-29 Bionano Genomics, Inc. Methods and related devices for single molecule whole genome analysis
FI3783110T3 (fi) 2009-11-05 2023-03-02 Fetaalisen genomin analyysi maternaalisesta biologisesta näytteestä
EP3660165B1 (en) 2009-12-22 2023-01-04 Sequenom, Inc. Processes and kits for identifying aneuploidy
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
CA2786565C (en) 2010-01-19 2017-04-25 Verinata Health, Inc. Partition defined detection methods
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
US20140227691A1 (en) 2010-05-14 2014-08-14 Fluidigm, Inc. Nucleic acid isolation methods
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
WO2011149534A2 (en) * 2010-05-25 2011-12-01 The Regents Of The University Of California Bambam: parallel comparative analysis of high-throughput sequencing data
EP2591433A4 (en) * 2010-07-06 2017-05-17 Life Technologies Corporation Systems and methods to detect copy number variation
SG186787A1 (en) 2010-07-23 2013-02-28 Esoterix Genetic Lab Llc Identification of differentially represented fetal or maternal genomic regions and uses thereof
ES2770342T3 (es) 2010-12-22 2020-07-01 Natera Inc Procedimientos para pruebas prenatales no invasivas de paternidad
AU2011348267A1 (en) 2010-12-23 2013-08-01 Sequenom, Inc. Fetal genetic variation detection
BR112013018139A8 (pt) 2011-01-19 2018-02-06 Koninklijke Philips Electronics Nv Método para processar dados genômicos de um indivíduo, uso de informação de sequência genômica, opcionalmente na combinação com informação de expressão de gene, apoio à decisão clínica e sistema de armazenamento e sistema
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
CA2824387C (en) 2011-02-09 2019-09-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
WO2012118745A1 (en) 2011-02-28 2012-09-07 Arnold Oliphant Assay systems for detection of aneuploidy and sex determination
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
CN103080336B (zh) 2011-05-31 2014-06-04 北京贝瑞和康生物技术有限公司 检测胚胎或肿瘤染色体拷贝数的试剂盒、装置和方法
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
CA2791118C (en) 2011-06-29 2019-05-07 Furnan Jiang Noninvasive detection of fetal genetic abnormality
WO2013019361A1 (en) 2011-07-07 2013-02-07 Life Technologies Corporation Sequencing methods
CN102409088B (zh) * 2011-09-22 2014-11-12 郭奇伟 一种基因拷贝数变异的检测方法
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2850785C (en) 2011-10-06 2022-12-13 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
ES2886508T3 (es) 2011-10-06 2021-12-20 Sequenom Inc Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas
US10196681B2 (en) 2011-10-06 2019-02-05 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
EP3243908B1 (en) 2011-10-11 2019-01-02 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2012347522B2 (en) * 2011-12-08 2015-07-30 Five3 Genomics, Llc MDM2-containing double minute chromosomes and methods therefore
ES2929923T3 (es) * 2012-01-20 2022-12-02 Sequenom Inc Procesos de diagnóstico que condicionan las condiciones experimentales
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
JP6411995B2 (ja) 2012-03-13 2018-10-24 ザ チャイニーズ ユニバーシティー オブ ホンコン 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013177086A1 (en) 2012-05-21 2013-11-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
IL269097B2 (en) 2012-09-04 2024-01-01 Guardant Health Inc Systems and methods for detecting rare mutations and changes in number of copies
WO2014055790A2 (en) 2012-10-04 2014-04-10 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
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
PL2981921T3 (pl) 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
EP3004383B1 (en) 2013-05-24 2019-04-24 Sequenom, Inc. Methods for non-invasive assessment of genetic variations using area-under-curve (auc) analysis
AU2014284180B2 (en) 2013-06-21 2020-03-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10174375B2 (en) 2013-09-20 2019-01-08 The Chinese University Of Hong Kong Sequencing analysis of circulating DNA to detect and monitor autoimmune diseases
WO2015051163A2 (en) 2013-10-04 2015-04-09 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2925111C (en) 2013-10-07 2024-01-16 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
CA3191504A1 (en) 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations

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