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JP2016526879A5
JP2016526879A5 JP2016515122A JP2016515122A JP2016526879A5 JP 2016526879 A5 JP2016526879 A5 JP 2016526879A5 JP 2016515122 A JP2016515122 A JP 2016515122A JP 2016515122 A JP2016515122 A JP 2016515122A JP 2016526879 A5 JP2016526879 A5 JP 2016526879A5
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JP2016515122A 2013-05-24 2014-05-23 遺伝子の変動の非侵襲性評価のための方法および処理 Active JP6561046B2 (ja)

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US201361827385P 2013-05-24 2013-05-24
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PCT/US2014/039389 WO2014190286A2 (en) 2013-05-24 2014-05-23 Methods and processes for non-invasive assessment of genetic variations

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EP (3) EP3578670B1 (cg-RX-API-DMAC7.html)
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Families Citing this family (93)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
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
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
JP6431769B2 (ja) 2012-01-20 2018-11-28 セクエノム, インコーポレイテッド 実験条件を要因として含める診断プロセス
US9605313B2 (en) 2012-03-02 2017-03-28 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
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
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
PL2981921T3 (pl) 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10622094B2 (en) 2013-06-21 2020-04-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2014302101A1 (en) * 2013-06-28 2016-02-04 Life Technologies Corporation Methods and systems for visualizing data quality
IL320112A (en) * 2013-10-04 2025-06-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
WO2015054080A1 (en) 2013-10-07 2015-04-16 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
EP3736344A1 (en) 2014-03-13 2020-11-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3598452B1 (en) 2014-05-30 2023-07-26 Sequenom, Inc. Chromosome representation determinations
US9118714B1 (en) * 2014-07-23 2015-08-25 Lookingglass Cyber Solutions, Inc. Apparatuses, methods and systems for a cyber threat visualization and editing user interface
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
EP3760739B1 (en) 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
JP2017530720A (ja) * 2014-10-17 2017-10-19 グッド スタート ジェネティクス, インコーポレイテッド 着床前遺伝子スクリーニングおよび異数性検出
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
US11868851B2 (en) * 2015-03-11 2024-01-09 Symphonyai Sensa Llc Systems and methods for predicting outcomes using a prediction learning model
BE1023267B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Werkwijze voor het analyseren van kopienummervariatie bij de detectie van kanker
EP3118324A1 (en) * 2015-07-13 2017-01-18 Cartagenia N.V. Method for analyzing copy number variation in the detection of cancer
BE1023266B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Systeem en methodologie voor de analyse van genomische gegevens die zijn verkregen van een onderwerp
KR101817785B1 (ko) * 2015-08-06 2018-01-11 이원다이애그노믹스(주) 다양한 플랫폼에서 태아의 성별과 성염색체 이상을 구분할 수 있는 새로운 방법
WO2017051996A1 (ko) * 2015-09-24 2017-03-30 에스케이텔레콤 주식회사 비침습적 태아 염색체 이수성 판별 방법
KR101817180B1 (ko) * 2016-01-20 2018-01-10 이원다이애그노믹스(주) 염색체 이상 판단 방법
CN106053066A (zh) * 2016-05-23 2016-10-26 华东交通大学 基于经验模态分解和逻辑回归的滚动轴承性能退化评估方法
US20170342477A1 (en) 2016-05-27 2017-11-30 Sequenom, Inc. Methods for Detecting Genetic Variations
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
CA3030894A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
US10650621B1 (en) 2016-09-13 2020-05-12 Iocurrents, Inc. Interfacing with a vehicular controller area network
CA3037366A1 (en) * 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
KR101907650B1 (ko) 2016-11-24 2018-10-12 에스케이텔레콤 주식회사 비침습적 태아 염색체 이수성 판별 방법
CN106845154B (zh) * 2016-12-29 2022-04-08 浙江安诺优达生物科技有限公司 一种用于ffpe样本拷贝数变异检测的装置
US11929143B2 (en) 2017-01-20 2024-03-12 Sequenom, Inc Methods for non-invasive assessment of copy number alterations
EP4235676A3 (en) 2017-01-20 2023-10-18 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
US11352662B2 (en) 2017-01-20 2022-06-07 Sequenom, Inc. Sequence adapter manufacture and use
EP3574424A1 (en) 2017-01-24 2019-12-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
CN106778069B (zh) * 2017-02-17 2020-02-14 广州精科医学检验所有限公司 确定胎儿染色体中微缺失微重复的方法及设备
WO2018170511A1 (en) 2017-03-17 2018-09-20 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
SK862017A3 (sk) 2017-08-24 2020-05-04 Grendar Marian Doc Mgr Phd Spôsob použitia fetálnej frakcie a chromozómovej reprezentácie pri určovaní aneuploidného stavu v neinvazívnom prenatálnom testovaní
KR102031841B1 (ko) * 2017-12-22 2019-10-15 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
KR102029393B1 (ko) * 2018-01-11 2019-10-07 주식회사 녹십자지놈 무세포 dna를 포함하는 샘플에서 순환 종양 dna를 검출하는 방법 및 그 용도
IT201800005623A1 (it) * 2018-05-23 2019-11-23 Metodo per la determinazione della probabilità del rischio di anomalie cromosomiche e genetiche da dna libero di origine fetale
CN110737006B (zh) * 2018-07-20 2023-05-02 菜鸟智能物流控股有限公司 轨迹去噪的处理方法、装置以及电子设备
CN109447402B (zh) * 2018-09-19 2022-02-22 语联网(武汉)信息技术有限公司 稿件基因的选取方法、装置与电子设备
US11940978B2 (en) * 2018-09-19 2024-03-26 International Business Machines Corporation Distributed platform for computation and trusted validation
WO2020068880A1 (en) 2018-09-24 2020-04-02 Tempus Labs, Inc. Methods of normalizing and correcting rna expression data
CN109872783B (zh) * 2018-12-28 2022-11-29 金力 一种基于大数据的糖尿病文献信息标准数据库集分析方法
CN109709391B (zh) * 2019-01-14 2021-02-02 江苏盛德电子仪表有限公司 一种带有高速载波通讯模块的智能电表及其通信系统
KR102381252B1 (ko) * 2019-02-19 2022-04-01 주식회사 녹십자지놈 혈중 무세포 dna 기반 간암 치료 예후예측 방법
WO2020169635A1 (en) 2019-02-20 2020-08-27 Grendar Marian Method for determining the uncertainty of the degree of placental mosaicism of a sample in non-invasive prenatal screening
WO2020180424A1 (en) 2019-03-04 2020-09-10 Iocurrents, Inc. Data compression and communication using machine learning
CN112823391B (zh) * 2019-06-03 2024-07-05 Illumina公司 基于检测限的质量控制度量
SG10201905438RA (en) * 2019-06-14 2021-01-28 Hui Qi Low System and method for conducting trait assessment
AU2020296188B2 (en) 2019-06-21 2023-08-24 Coopersurgical, Inc. System and method for determining genetic relationships between a sperm provider, oocyte provider, and the respective conceptus
WO2020257605A1 (en) * 2019-06-21 2020-12-24 Coopersurgical, Inc. Systems and methods for using density of single nucleotide variations for the verification of copy number variations in human embryos
US11403641B2 (en) * 2019-06-28 2022-08-02 Paypal, Inc. Transactional probability analysis on radial time representation
CN111027166B (zh) * 2019-07-30 2024-06-07 天津大学 艇位周边海域海洋要素快速分析方法
CN110457906B (zh) * 2019-08-15 2023-03-31 国家电网公司华东分部 一种网络安全事件智能告警方法
WO2021087491A1 (en) 2019-10-31 2021-05-06 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
US11853450B2 (en) * 2019-11-05 2023-12-26 Saudi Arabian Oil Company Detection of web application anomalies using machine learning
WO2021115906A1 (en) * 2019-12-12 2021-06-17 Koninklijke Philips N.V. Method and system for determining a cnv profile for a tumor using sparse whole genome sequencing
CN116157869A (zh) 2020-12-02 2023-05-23 伊鲁米纳软件公司 用于检测遗传改变的系统和方法
TWI791347B (zh) * 2020-12-11 2023-02-01 酷氏基因生物科技股份有限公司 一種用於評估胚胎植入成功率的預測方法
WO2022140579A1 (en) * 2020-12-24 2022-06-30 Progenity, Inc. Methods of preparing assays, systems, and compositions for determining fetal fraction
CN112906250B (zh) * 2021-04-09 2022-05-31 吉林大学 一种复杂系统模块分类方法
US20240355415A1 (en) * 2021-09-03 2024-10-24 Institut National De La Sante Et De La Recherche Medicale Methods and devices for non-invasive prenatal testing
KR102704709B1 (ko) * 2021-11-24 2024-09-10 지놈케어 주식회사 가상 데이터에 기반한 태아의 염색체이수성을 검출하는 방법
US20230323440A1 (en) * 2022-03-24 2023-10-12 Bio-Rad Laboratories, Inc. Method and system for sizing a population of nucleic acid fragments using a digital assay
CN114563834B (zh) * 2022-04-27 2022-07-26 知一航宇(北京)科技有限公司 一种数值预报产品解释应用方法及系统
KR102470337B1 (ko) * 2022-05-18 2022-11-25 주식회사 쓰리빌리언 변이 접합성 판별 시스템
KR20240017305A (ko) 2022-07-29 2024-02-07 황지영 분자생물학 마커를 이용한 크레스티드 게코 도마뱀의 성별 판별 방법
CN115132271B (zh) * 2022-09-01 2023-07-04 北京中仪康卫医疗器械有限公司 一种基于批次内校正的cnv检测方法
CN116050876A (zh) * 2022-11-18 2023-05-02 苏州大学 一种生态系统文化服务潜在供应评价及分布的分析方法
CN115983102B (zh) * 2022-12-08 2025-10-10 北京工业大学 一种基于空间网格化聚类的供水管道优化改造的方法
WO2024137407A1 (en) * 2022-12-21 2024-06-27 The Johns Hopkins University Methods and targets of dna methylation entropy
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
CN116246704B (zh) * 2023-05-10 2023-08-15 广州精科生物技术有限公司 用于胎儿无创产前检测的系统
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
WO2025005860A1 (en) * 2023-06-26 2025-01-02 Johan Lindberg Method of identifying and adjusting for systematic variability in dna abundance measurements
KR102826451B1 (ko) * 2023-09-01 2025-06-27 사회복지법인 삼성생명공익재단 신생아로부터 비침습적으로 분리된 검체를 이용한 신생아의 검체 분석 방법
CN117230165A (zh) * 2023-09-01 2023-12-15 深圳湾实验室 一种无创产前检测胎儿染色体拷贝数异常的优化方法
CN117237324B (zh) * 2023-10-09 2024-03-29 苏州博致医疗科技有限公司 一种非侵入式整倍体预测方法及系统

Family Cites Families (172)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning 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
ATE139258T1 (de) 1990-01-12 1996-06-15 Cell Genesys Inc Erzeugung xenogener antikörper
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
DK0699687T3 (da) 1994-08-31 2004-04-26 Mitsubishi Pharma Corp Fremgangsmåde til oprensning af rekombinant humant 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
JP2000510582A (ja) 1996-04-25 2000-08-15 ゼニコン・サイエンシーズ・コーポレーション 微粒子標識を使用した分析物アッセイ
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
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
US5928870A (en) 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
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
WO2000006770A1 (en) 1998-07-30 2000-02-10 Solexa Ltd. Arrayed biomolecules and their use in sequencing
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
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
EP1218543A2 (en) 1999-09-29 2002-07-03 Solexa Ltd. Polynucleotide sequencing
ATE321867T1 (de) 1999-10-29 2006-04-15 Stratagene California Zusammensetzungen und methoden zur verwendung von dna polymerasen
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
WO2002042496A2 (en) 2000-11-27 2002-05-30 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
WO2002072892A1 (en) 2001-03-12 2002-09-19 California Institute Of Technology Methods and apparatus 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
EP1483415A4 (en) 2002-02-20 2006-02-01 Univ Virginia NON-INVASIVE DIAGNOSTIC TEST USING HISTONE MODIFICATION MARKERS
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
US8034567B2 (en) 2002-09-06 2011-10-11 Trustees Of Boston University Quantification of gene expression
WO2004050839A2 (en) 2002-11-27 2004-06-17 Sequenom, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
EP1641809B2 (en) 2003-07-05 2018-10-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
US20070026406A1 (en) * 2003-08-13 2007-02-01 Iconix Pharmaceuticals, Inc. Apparatus and method for classifying multi-dimensional biological data
WO2005017025A2 (en) 2003-08-15 2005-02-24 The President And Fellows Of Harvard College Study of polymer molecules and conformations with a nanopore
EP1664077B1 (en) 2003-09-05 2016-04-13 Trustees of Boston University Method for non-invasive prenatal diagnosis
ATE435301T1 (de) 2003-10-16 2009-07-15 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
WO2006028508A2 (en) 2004-03-23 2006-03-16 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
CN102925549A (zh) 2004-08-13 2013-02-13 哈佛学院院长等 超高处理量光学-纳米孔dna读出平台
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
CN101137760B (zh) 2005-03-18 2011-01-26 香港中文大学 检测染色体非整倍性的方法
CN101346724B (zh) * 2005-11-26 2018-05-08 纳特拉公司 清除干扰遗传数据,并使用遗传数据进行预测的方法和体系
WO2007065025A2 (en) 2005-11-29 2007-06-07 Wisconsin Alumni Research Foundation Method of dna analysis using micro/nanochannel
ES2739484T3 (es) 2006-02-02 2020-01-31 Univ Leland Stanford Junior Prueba genética fetal no invasiva mediante análisis digital
CA2647793C (en) 2006-02-28 2016-07-05 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
RU2466458C2 (ru) 2006-03-10 2012-11-10 Конинклейке Филипс Электроникс, Н.В. Способы и системы идентификации паттернов днк при помощи спектрального анализа
US20070243549A1 (en) 2006-04-12 2007-10-18 Biocept, Inc. Enrichment of circulating fetal dna
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
EP2029777B1 (en) 2006-05-31 2017-03-08 Sequenom, Inc. Methods and compositions for the extraction of nucleic acid from a sample
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
CN101501251A (zh) 2006-06-16 2009-08-05 塞昆纳姆股份有限公司 扩增、检测和定量样品中核酸的方法和组合物
US20080081330A1 (en) 2006-09-28 2008-04-03 Helicos Biosciences Corporation Method and devices for analyzing small RNA molecules
US9163229B2 (en) 2006-10-10 2015-10-20 Trovagene, Inc. Compositions, methods and kits for isolating nucleic acids from body fluids using anion exchange media
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
CA2682275C (en) 2007-03-28 2017-05-09 Bionanomatrix, Inc. Methods of macromolecular analysis using nanochannel arrays
EP3798317B1 (en) 2007-04-04 2024-01-03 The Regents of the University of California Compositions, devices, systems, and methods for using a nanopore
GB0713143D0 (en) 2007-07-06 2007-08-15 Ucl Business Plc Nucleic acid detection method
EP3892736A1 (en) 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
WO2009032781A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
EA201000427A1 (ru) 2007-10-04 2010-10-29 Хэлсион Молекулар Секвенирование нуклеиново-кислотных полимеров с использованием электронной микроскопии
US7767400B2 (en) 2008-02-03 2010-08-03 Helicos Biosciences Corporation Paired-end reads in sequencing by synthesis
CA2717320A1 (en) 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
EP2276858A4 (en) 2008-03-26 2011-10-05 Sequenom Inc RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION
AU2009267086B2 (en) 2008-06-30 2016-01-14 Bionano Genomics, Inc. Methods and devices for single-molecule whole genome analysis
WO2010004273A1 (en) 2008-07-07 2010-01-14 Oxford Nanopore Technologies Limited Base-detecting pore
US20110229877A1 (en) 2008-07-07 2011-09-22 Oxford Nanopore Technologies Limited Enzyme-pore constructs
DK2329021T3 (en) 2008-09-16 2016-10-24 Sequenom Inc Methods and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample suitable 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
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
EP4335932A3 (en) 2008-11-07 2024-06-26 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
WO2010059731A2 (en) 2008-11-18 2010-05-27 Bionanomatrix, Inc. Polynucleotide mapping and sequencing
WO2010065470A2 (en) 2008-12-01 2010-06-10 Consumer Genetics, Inc. Compositions and methods for detecting background male dna during fetal sex determination
MY161966A (en) 2008-12-22 2017-05-15 Celula Inc Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
US8455260B2 (en) 2009-03-27 2013-06-04 Massachusetts Institute Of Technology Tagged-fragment map assembly
CA2757493C (en) 2009-04-03 2018-11-13 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
US9725315B2 (en) 2009-09-28 2017-08-08 Bionano Genomics, Inc. Nanochannel arrays and near-field illumination devices for polymer analysis and related methods
US20120237936A1 (en) 2009-10-21 2012-09-20 Bionano Genomics, Inc. Methods and related devices for single molecule whole genome analysis
CN102770558B (zh) 2009-11-05 2016-04-06 香港中文大学 由母本生物样品进行胎儿基因组的分析
CA2785020C (en) 2009-12-22 2020-08-25 Sequenom, Inc. Processes and kits for identifying aneuploidy
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US9260745B2 (en) * 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
AU2010343276B2 (en) 2010-01-19 2015-05-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
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
SG185544A1 (en) 2010-05-14 2012-12-28 Fluidigm Corp Nucleic acid isolation methods
US8825412B2 (en) 2010-05-18 2014-09-02 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20120046877A1 (en) 2010-07-06 2012-02-23 Life Technologies Corporation Systems and methods to detect copy number variation
US20120021919A1 (en) 2010-07-23 2012-01-26 Thomas Scholl Identification of Differentially Represented Fetal or Maternal Genomic Regions and Uses Thereof
US8700338B2 (en) * 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
KR102040307B1 (ko) * 2010-11-30 2019-11-27 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
WO2012083250A2 (en) 2010-12-17 2012-06-21 Celula, Inc. Methods for screening and diagnosing genetic conditions
RU2620959C2 (ru) 2010-12-22 2017-05-30 Натера, Инк. Способы неинвазивного пренатального установления отцовства
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
US20120190020A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
WO2012118745A1 (en) 2011-02-28 2012-09-07 Arnold Oliphant Assay systems for detection of aneuploidy and sex determination
HUE041411T2 (hu) 2011-04-12 2019-05-28 Verinata Health Inc Genomfrakciók feloldása polimorfizmus-szám alkalmazásával
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
DK2716766T3 (da) 2011-05-31 2017-01-02 Berry Genomics Co Ltd Indretning til detektering af kopiantal af føtale kromosomer eller tumorcellekromosomer
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
CN103403183B (zh) 2011-06-29 2014-10-15 深圳华大基因医学有限公司 胎儿遗传异常的无创性检测
US9139874B2 (en) 2011-07-07 2015-09-22 Life Technologies Corporation Bi-directional sequencing compositions and methods
US10196681B2 (en) 2011-10-06 2019-02-05 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
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2012318371B2 (en) 2011-10-06 2018-03-22 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
US9367663B2 (en) 2011-10-06 2016-06-14 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
CA2851537C (en) 2011-10-11 2020-12-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6431769B2 (ja) 2012-01-20 2018-11-28 セクエノム, インコーポレイテッド 実験条件を要因として含める診断プロセス
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
CA2866324C (en) 2012-03-13 2019-01-15 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
EP4276194A3 (en) * 2012-05-21 2024-03-06 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
US10504613B2 (en) 2012-12-20 2019-12-10 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
CA2878246C (en) 2012-07-20 2022-01-11 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer genome
KR102393608B1 (ko) 2012-09-04 2022-05-03 가던트 헬쓰, 인크. 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2887094C (en) 2012-10-04 2021-09-07 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
EP3409791B1 (en) 2013-03-15 2021-06-30 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
PL2981921T3 (pl) 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10622094B2 (en) 2013-06-21 2020-04-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
GB201318369D0 (en) 2013-10-17 2013-12-04 Univ Leuven Kath Methods using BAF
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
IL320112A (en) 2013-10-04 2025-06-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
WO2015054080A1 (en) 2013-10-07 2015-04-16 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
GB201319779D0 (en) 2013-11-08 2013-12-25 Cartagenia N V Genetic analysis method
EP3598452B1 (en) 2014-05-30 2023-07-26 Sequenom, Inc. Chromosome representation determinations
EP3760739B1 (en) 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
EP3574424A1 (en) 2017-01-24 2019-12-04 Sequenom, Inc. Methods and processes for assessment of genetic variations

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