PL2981921T3 - Metody i procesy nieinwazyjnej oceny zmienności genetycznych - Google Patents

Metody i procesy nieinwazyjnej oceny zmienności genetycznych

Info

Publication number
PL2981921T3
PL2981921T3 PL14723612.9T PL14723612T PL2981921T3 PL 2981921 T3 PL2981921 T3 PL 2981921T3 PL 14723612 T PL14723612 T PL 14723612T PL 2981921 T3 PL2981921 T3 PL 2981921T3
Authority
PL
Poland
Prior art keywords
processes
methods
genetic variations
invasive assessment
invasive
Prior art date
Application number
PL14723612.9T
Other languages
English (en)
Inventor
Zeljko Dzakula
Chen Zhao
Cosmin Deciu
Original Assignee
Sequenom, Inc.
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
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Publication date
Application filed by Sequenom, Inc. filed Critical Sequenom, Inc.
Publication of PL2981921T3 publication Critical patent/PL2981921T3/pl

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    • GPHYSICS
    • G06COMPUTING OR CALCULATING; COUNTING
    • G06FELECTRIC DIGITAL DATA PROCESSING
    • G06F17/00Digital computing or data processing equipment or methods, specially adapted for specific functions
    • G06F17/10Complex mathematical operations
    • G06F17/18Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • YGENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02ATECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

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  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Chemical & Material Sciences (AREA)
  • Data Mining & Analysis (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • General Physics & Mathematics (AREA)
  • Databases & Information Systems (AREA)
  • Software Systems (AREA)
  • Computational Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • Mathematical Optimization (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Epidemiology (AREA)
  • Public Health (AREA)
  • Evolutionary Computation (AREA)
  • Operations Research (AREA)
  • Probability & Statistics with Applications (AREA)
  • Algebra (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
PL14723612.9T 2013-04-03 2014-04-02 Metody i procesy nieinwazyjnej oceny zmienności genetycznych PL2981921T3 (pl)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361808027P 2013-04-03 2013-04-03
US201361827323P 2013-05-24 2013-05-24
PCT/US2014/032687 WO2014165596A1 (en) 2013-04-03 2014-04-02 Methods and processes for non-invasive assessment of genetic variations

Publications (1)

Publication Number Publication Date
PL2981921T3 true PL2981921T3 (pl) 2023-05-08

Family

ID=50694036

Family Applications (1)

Application Number Title Priority Date Filing Date
PL14723612.9T PL2981921T3 (pl) 2013-04-03 2014-04-02 Metody i procesy nieinwazyjnej oceny zmienności genetycznych

Country Status (8)

Country Link
US (2) US10930368B2 (pl)
EP (2) EP2981921B1 (pl)
ES (1) ES2939547T3 (pl)
FI (1) FI2981921T3 (pl)
HU (1) HUE061261T2 (pl)
LT (1) LT2981921T (pl)
PL (1) PL2981921T3 (pl)
WO (1) WO2014165596A1 (pl)

Families Citing this family (42)

* 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
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2764458B1 (en) 2011-10-06 2021-04-07 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
US10424394B2 (en) 2011-10-06 2019-09-24 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
PL2805280T3 (pl) 2012-01-20 2022-11-21 Sequenom, Inc. Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
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
HUE061261T2 (hu) 2013-04-03 2023-05-28 Sequenom Inc Eljárások és folyamatok genetikai variánsok nem invazív értékelésére
IL309903A (en) 2013-05-24 2024-03-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
AU2014284180B2 (en) 2013-06-21 2020-03-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
PL3053071T3 (pl) 2013-10-04 2024-03-18 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
CN105874082B (zh) 2013-10-07 2020-06-02 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
US11094398B2 (en) 2014-10-10 2021-08-17 Life Technologies Corporation Methods for calculating corrected amplicon coverages
US10892035B2 (en) * 2014-10-10 2021-01-12 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3390668A4 (en) * 2015-12-17 2020-04-01 Guardant Health, Inc. METHOD FOR DETERMINING THE TUMORGEN COPY NUMBER BY ANALYSIS OF CELL-FREE DNA
US10496948B1 (en) * 2015-12-18 2019-12-03 Xactly Corporation Computer trend visualization using quadratic simplified closed form linear regression
AU2017237199B2 (en) 2016-03-25 2020-11-05 Karius, Inc. Synthetic nucleic acid spike-ins
EP3454964B1 (en) * 2016-05-13 2021-06-23 Agilent Technologies, Inc. Automated alignment, calibration and standardization of electrophoresis data
EP3491560A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Genetic copy number alteration classifications
US12100483B2 (en) 2016-12-22 2024-09-24 Grail, Llc Base coverage normalization and use thereof in detecting copy number variation
WO2018140521A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
IL317916A (en) 2017-03-17 2025-02-01 Sequenom Inc Methods and processes for assessing 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
EP3704268B1 (en) 2017-11-03 2025-01-22 Guardant Health, Inc. Normalizing tumor mutation burden
CN108334417B (zh) 2018-01-26 2021-03-02 创新先进技术有限公司 确定数据异常的方法和装置
EP3795692A4 (en) * 2018-05-07 2021-07-21 GeneMind Biosciences Company Limited METHOD, DEVICE AND SYSTEM FOR DETECTION OF CHROMOSOMAL ANEUPLOIDY
WO2020023420A2 (en) 2018-07-23 2020-01-30 Guardant Health, Inc. Methods and systems for adjusting tumor mutational burden by tumor fraction and coverage
FI4428234T3 (fi) 2018-11-21 2026-03-10 Karius Inc Suoran kirjastonmuodostuksen menetelmiä, -järjestelmiä ja -koostumuksia
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
US12444479B2 (en) * 2020-10-20 2025-10-14 Bgi Genomics Co., Ltd. Method for determining pregnancy status of pregnant woman
US11727037B2 (en) * 2021-07-26 2023-08-15 Booz Allen Hamilton Inc. Continuously generalized ordinal regression
WO2023062652A1 (en) * 2021-10-13 2023-04-20 Haystackanalyt Ics Pvt. Ltd Systems and methods for secure genomic analysis using a specialized edge computing device
US20230376569A1 (en) * 2022-05-23 2023-11-23 Fujitsu Limited Analysis of clustered data
US20240379220A1 (en) * 2023-05-11 2024-11-14 Optum, Inc. Systems and methods for performing structural equation modeling (sem) using healthcare product data
GB2635305A (en) * 2023-07-21 2025-05-14 Tailor Bio Ltd Genomic sequencing analysis
US20250037414A1 (en) * 2023-07-25 2025-01-30 International Business Machines Corporation Optimally dividing dataset distributions

Family Cites Families (156)

* 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
JP3068180B2 (ja) 1990-01-12 2000-07-24 アブジェニックス インコーポレイテッド 異種抗体の生成
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
EP0699687B1 (en) 1994-08-31 2004-01-28 Mitsubishi Pharma Corporation Process for purifying recombinant human serum albumin
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
RU2251572C2 (ru) 1996-04-25 2005-05-10 Дженикон Сайенсиз Корпорейшн, Дзе Риджентс Оф Дзе Юниверсити Оф Калифорния Анализ аналитов с использованием частиц в качестве метки
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
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
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
AU7537200A (en) 1999-09-29 2001-04-30 Solexa Ltd. Polynucleotide sequencing
US6946273B1 (en) 1999-10-29 2005-09-20 Stratagene California Compositions and methods utilizing DNA polymerases
US20010049102A1 (en) 2000-02-24 2001-12-06 Huang Xiaohua C. 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
CA2440754A1 (en) 2001-03-12 2002-09-19 Stephen Quake Methods and apparatus for analyzing polynucleotide sequences by asynchronous base extension
AU2002318386A1 (en) 2001-06-21 2003-01-08 Agilent Technologies, Inc. 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
US7285394B2 (en) 2002-03-15 2007-10-23 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
US20050019784A1 (en) 2002-05-20 2005-01-27 Xing Su Method and apparatus for nucleic acid sequencing and identification
US7005264B2 (en) 2002-05-20 2006-02-28 Intel Corporation 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
EP1613723B1 (en) 2002-11-27 2013-05-15 Sequenom, Inc. Fragmentation-based methods for sequence variation detection and discovery
JP5183063B2 (ja) 2003-07-05 2013-04-17 ザ ジョンズ ホプキンス ユニバーシティ 遺伝的変異の検出および列挙のための方法ならびに組成物
WO2005017025A2 (en) 2003-08-15 2005-02-24 The President And Fellows Of Harvard College Study of polymer molecules and conformations with a nanopore
WO2005023091A2 (en) 2003-09-05 2005-03-17 The 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
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
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
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
DE602005016712D1 (de) 2004-11-29 2009-10-29 Univ Regensburg Klinikum Rter dna
EP1859050B1 (en) 2005-03-18 2012-10-24 The Chinese University Of Hong Kong A method for the detection of chromosomal aneuploidies
US7960105B2 (en) 2005-11-29 2011-06-14 National Institutes Of Health Method of DNA analysis using micro/nanochannel
EP3002338B1 (en) 2006-02-02 2019-05-08 The Board of Trustees of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
WO2007100911A2 (en) 2006-02-28 2007-09-07 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
TW200741192A (en) 2006-03-10 2007-11-01 Koninkl Philips Electronics Nv Methods and systems for identification of DNA patterns through spectral analysis
US20090075252A1 (en) 2006-04-14 2009-03-19 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
US7282337B1 (en) 2006-04-14 2007-10-16 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
EP2602321B1 (en) 2006-05-31 2017-08-23 Sequenom, Inc. Methods and compositions for the extraction and amplification of nucleic acid from a sample
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
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
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
CA2964611C (en) 2007-03-28 2021-06-01 Bionano Genomics, Inc. Methods of macromolecular analysis using nanochannel arrays
JP5646987B2 (ja) 2007-04-04 2014-12-24 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 ナノポアを使用するための組成物、デバイス、システム、及び方法
GB0713143D0 (en) 2007-07-06 2007-08-15 Ucl Business Plc Nucleic acid detection method
US9218449B2 (en) 2007-07-23 2015-12-22 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
KR20220146689A (ko) 2007-07-23 2022-11-01 더 차이니즈 유니버시티 오브 홍콩 핵산 서열 불균형의 결정
EP2195452B1 (en) 2007-08-29 2012-03-14 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
KR20100089060A (ko) 2007-10-04 2010-08-11 할싸이언 몰레큘러 전자 현미경으로 핵산 중합체를 시퀀싱하는 방법
US7767400B2 (en) 2008-02-03 2010-08-03 Helicos Biosciences Corporation Paired-end reads in sequencing by synthesis
AU2009223671B2 (en) 2008-03-11 2014-11-27 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
CA2729159C (en) 2008-06-30 2020-01-14 Bionanomatrix, Inc. Methods and devices for single-molecule whole genome analysis
EP2682460B1 (en) 2008-07-07 2017-04-26 Oxford Nanopore Technologies Limited Enzyme-pore constructs
JP2011527191A (ja) 2008-07-07 2011-10-27 オックスフォード ナノポア テクノロジーズ リミテッド 塩基検出細孔
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
CN102216456A (zh) 2008-09-16 2011-10-12 塞昆纳姆股份有限公司 基于甲基化富集母体样品中胎儿核酸的非侵入性产前诊断用方法和组合物
ES2620012T3 (es) 2008-09-20 2017-06-27 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
WO2010053587A2 (en) 2008-11-07 2010-05-14 Mlc Dx Incorporated Methods of monitoring conditions by sequence analysis
US20110301042A1 (en) 2008-11-11 2011-12-08 Helicos Biosciences Corporation Methods of sample encoding for multiplex analysis of samples by single molecule sequencing
US9181578B2 (en) 2008-11-18 2015-11-10 Bionano Genomics, 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
US9051602B2 (en) 2008-12-22 2015-06-09 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
EP2414545B1 (en) 2009-04-03 2017-01-11 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
AU2010310638A1 (en) 2009-10-21 2012-05-03 Bionano Genomics, Inc. Methods and related devices for single molecule whole genome analysis
PL2496717T3 (pl) 2009-11-05 2017-11-30 The Chinese University Of Hong Kong Analiza genomowa płodu z matczynej próbki biologicznej
US8720555B2 (en) 2009-11-18 2014-05-13 Halliburton Energy Services, Inc. Self-diverting high-rate water packs
US8574842B2 (en) 2009-12-22 2013-11-05 The Board Of Trustees Of The Leland Stanford Junior University Direct molecular diagnosis of fetal aneuploidy
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
WO2011091063A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US10662474B2 (en) 2010-01-19 2020-05-26 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
ES2704701T3 (es) 2010-01-19 2019-03-19 Verinata Health Inc Nuevo protocolo de preparación de bibliotecas de secuenciación
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
EP2569453B1 (en) 2010-05-14 2015-12-16 Fluidigm Corporation Nucleic acid isolation methods
CA3037126C (en) 2010-05-18 2023-09-12 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
EP2596127A2 (en) 2010-07-23 2013-05-29 Esoterix Genetic Laboratories, LLC Identification of differentially represented fetal or maternal genomic regions and uses thereof
BR112013016193B1 (pt) 2010-12-22 2019-10-22 Natera, Inc. método ex vivo para determinar se um suposto pai é o pai biológico de um feto que está em gestação em uma gestante e relatório
WO2012088348A2 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
US20120190020A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
US20120219950A1 (en) 2011-02-28 2012-08-30 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
WO2012162884A1 (zh) 2011-05-31 2012-12-06 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
SG191757A1 (en) * 2011-06-29 2013-08-30 Bgi Health Service Co Ltd Noninvasive detection of fetal genetic abnormality
WO2013019361A1 (en) 2011-07-07 2013-02-07 Life Technologies Corporation Sequencing methods
EP2764459B1 (en) 2011-10-06 2021-06-30 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
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2764458B1 (en) 2011-10-06 2021-04-07 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
ES2624686T3 (es) 2011-10-11 2017-07-17 Sequenom, Inc. Métodos y procesos para la evaluación no invasiva de variaciones genéticas
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
PL2805280T3 (pl) 2012-01-20 2022-11-21 Sequenom, Inc. Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
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
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2874195C (en) 2012-05-21 2020-08-25 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
GB2533006B (en) 2012-09-04 2017-06-07 Guardant Health Inc Systems and methods to detect copy number variation
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014055790A2 (en) 2012-10-04 2014-04-10 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
HUE061261T2 (hu) 2013-04-03 2023-05-28 Sequenom Inc Eljárások és folyamatok genetikai variánsok nem invazív értékelésére
IL309903A (en) 2013-05-24 2024-03-01 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
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
PL3053071T3 (pl) 2013-10-04 2024-03-18 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
CN105874082B (zh) 2013-10-07 2020-06-02 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
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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