PT3596233T - Métodos e processos para avaliação de mosaicismo genético - Google Patents

Métodos e processos para avaliação de mosaicismo genético

Info

Publication number
PT3596233T
PT3596233T PT187154521T PT18715452T PT3596233T PT 3596233 T PT3596233 T PT 3596233T PT 187154521 T PT187154521 T PT 187154521T PT 18715452 T PT18715452 T PT 18715452T PT 3596233 T PT3596233 T PT 3596233T
Authority
PT
Portugal
Prior art keywords
mosaicist
genetic
evaluation
processes
methods
Prior art date
Application number
PT187154521T
Other languages
English (en)
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.)
Filing date
Publication date
Application filed by Sequenom Inc filed Critical Sequenom Inc
Publication of PT3596233T publication Critical patent/PT3596233T/pt

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • Y—GENERAL 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
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
PT187154521T 2017-03-17 2018-03-19 Métodos e processos para avaliação de mosaicismo genético PT3596233T (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201762473074P 2017-03-17 2017-03-17

Publications (1)

Publication Number Publication Date
PT3596233T true PT3596233T (pt) 2022-08-22

Family

ID=61874050

Family Applications (1)

Application Number Title Priority Date Filing Date
PT187154521T PT3596233T (pt) 2017-03-17 2018-03-19 Métodos e processos para avaliação de mosaicismo genético

Country Status (7)

Country Link
US (1) US12421550B2 (pt)
EP (2) EP3998350B1 (pt)
JP (2) JP7370862B2 (pt)
CA (1) CA3056118A1 (pt)
IL (2) IL269202B2 (pt)
PT (1) PT3596233T (pt)
WO (1) WO2018170511A1 (pt)

Families Citing this family (19)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
EP3697946A4 (en) * 2017-10-17 2021-07-14 President And Fellows Of Harvard College PROCEDURES AND SYSTEMS FOR DETECTING SOMATIC STRUCTURAL VARIANTS
AU2018355575A1 (en) 2017-10-27 2020-05-21 Juno Diagnostics, Inc. Devices, systems and methods for ultra-low volume liquid biopsy
CA3095030A1 (en) * 2018-03-30 2019-10-03 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
KR20260023068A (ko) * 2019-01-24 2026-02-20 일루미나, 인코포레이티드 장기 건강 및 질환을 모니터링하기 위한 방법 및 시스템
CA3159786A1 (en) * 2019-10-31 2021-05-06 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN111508559B (zh) * 2020-04-21 2021-08-13 北京橡鑫生物科技有限公司 检测目标区域cnv的方法及装置
WO2021236993A1 (en) 2020-05-22 2021-11-25 Bloodq, Inc. Methods for characterizing cell-free nucleic acid fragments
US20210398617A1 (en) * 2020-06-19 2021-12-23 Tempus Labs, Inc. Molecular response and progression detection from circulating cell free dna
US20220215900A1 (en) * 2021-01-07 2022-07-07 Tempus Labs, Inc. Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics
CN113011100B (zh) * 2021-03-29 2024-05-17 山东理工大学 一种基于多元非线性拟合和bp神经网络的磨削粗糙度预测方法
AU2022255198A1 (en) * 2021-04-08 2023-11-23 Fred Hutchinson Cancer Center Cell-free dna sequence data analysis method to examine nucleosome protection and chromatin accessibility
US20220344001A1 (en) * 2021-04-12 2022-10-27 Zeljko Jovan Dzakula System and Method for Reduction of Technical Variability and Extraction of Biological Signal from Nucleic Acid Sequencing Data
CN113436678A (zh) * 2021-07-07 2021-09-24 哈尔滨因极科技有限公司 一种基于滤波降噪的基因组结构变异检测方法
CN117476101B (zh) * 2023-11-22 2025-10-10 浙江大学 一种多组学单细胞测序数据区分恶性细胞的方法、系统、设备和介质

Family Cites Families (176)

* 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
EP1690935A3 (en) 1990-01-12 2008-07-30 Abgenix, 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
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
JPH10513043A (ja) 1994-12-23 1998-12-15 インペリアル カレッジ オブ サイエンス，テクノロジー アンド メディシン 自動化ｄｎａ塩基配列決定法
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 Analyte assay using scattered-light detectable particles
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
AU770831B2 (en) 1998-07-30 2004-03-04 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
WO2001023610A2 (en) 1999-09-29 2001-04-05 Solexa Ltd. Polynucleotide sequencing
AU1239901A (en) 1999-10-29 2001-05-14 Stratagene 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
AU2002239284A1 (en) 2000-11-27 2002-06-03 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
JP2004523243A (ja) 2001-03-12 2004-08-05 カリフォルニア インスティチュート オブ テクノロジー 非同期性塩基伸長によってポリヌクレオチド配列を分析するための方法および装置
EP1478771A4 (en) 2001-06-21 2005-06-15 Harvard College METHODS OF CHARACTERIZING 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
AU2003216291A1 (en) 2002-02-20 2003-09-09 Chroma Therapeutics Ltd. A non-invasive diagnostic test utilizing histone modification markers
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
ATE349555T1 (de) 2002-03-15 2007-01-15 Epigenomics Ag Entdeckungs- und diagnoseverfahren mit 5- methylcytosin-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
JP4683922B2 (ja) 2002-09-06 2011-05-18 トラスティーズ オブ ボストン ユニバーシティ 遺伝子発現の定量方法
CN1774511B (zh) 2002-11-27 2013-08-21 斯昆诺有限公司 用于序列变异检测和发现的基于断裂的方法和系统
US8048627B2 (en) 2003-07-05 2011-11-01 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
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
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
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
WO2006020775A2 (en) 2004-08-13 2006-02-23 Harvard University An ultra high-throughput opti-nanopore dna readout platform
EP1817430B1 (en) 2004-11-29 2009-09-16 Klinikum der Universität Regensburg Means and methods for detecting methylated dna
JP5219516B2 (ja) 2005-03-18 2013-06-26 ザ チャイニーズ ユニバーシティー オブ ホンコン 染色体異数性の検出方法
WO2007065025A2 (en) 2005-11-29 2007-06-07 Wisconsin Alumni Research Foundation Method of dna analysis using micro/nanochannel
WO2007092473A2 (en) 2006-02-02 2007-08-16 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
SI1996728T1 (sl) 2006-02-28 2011-10-28 Univ Louisville Res Found Prepoznavanje kromosomskih nenormalnosti pri zarodku s pomočjo dvojnih mononukleotidnih polimorfizmov
CN101401101B (zh) 2006-03-10 2014-06-04 皇家飞利浦电子股份有限公司 用于通过谱分析鉴定dna模式的方法和系统
WO2007121276A2 (en) 2006-04-12 2007-10-25 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
EP3260556B1 (en) 2006-05-31 2019-07-31 Sequenom, Inc. Methods for the extraction 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
EP2038426A2 (en) 2006-06-16 2009-03-25 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
CN101535851B (zh) 2006-09-14 2011-01-26 株式会社藤仓 光纤以及光纤母材
US20080081330A1 (en) 2006-09-28 2008-04-03 Helicos Biosciences Corporation Method and devices for analyzing small RNA molecules
ES2588227T3 (es) 2006-10-10 2016-10-31 Trovagene, Inc. Composiciones, métodos y kits para aislar ácidos nucleicos de fluidos corporales usando medios de intercambio aniónico
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
KR101522741B1 (ko) 2007-03-28 2015-05-26 바이오나노 제노믹스, 인크. 나노채널 어레이를 사용하는 거대분자 분석 방법
WO2008124107A1 (en) 2007-04-04 2008-10-16 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
US12054776B2 (en) 2007-07-23 2024-08-06 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
WO2009032781A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
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
WO2009114543A2 (en) 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
WO2011050147A1 (en) 2009-10-21 2011-04-28 Bionanomatrix, Inc . Methods and related devices for single molecule whole genome analysis
US8628919B2 (en) 2008-06-30 2014-01-14 Bionano Genomics, Inc. Methods and devices for single-molecule whole genome analysis
CA2730068A1 (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
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
WO2010033578A2 (en) 2008-09-20 2010-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
EP2364368B1 (en) 2008-11-07 2014-01-15 Sequenta, Inc. 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
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
CN104531837A (zh) 2008-12-22 2015-04-22 赛卢拉有限公司 检测等位基因、基因组和转录物组的方法和基因型分析谱
US8455260B2 (en) 2009-03-27 2013-06-04 Massachusetts Institute Of Technology Tagged-fragment map assembly
US8771948B2 (en) 2009-04-03 2014-07-08 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
LT3241914T (lt) 2009-11-05 2019-04-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
CA2780016C (en) 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
DK2516680T3 (en) 2009-12-22 2016-05-02 Sequenom Inc Method and kits to identify aneuploidy
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
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
US9260745B2 (en) * 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
AU2011207544A1 (en) 2010-01-19 2012-09-06 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
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
EP2854058A3 (en) 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
WO2012006291A2 (en) 2010-07-06 2012-01-12 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
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
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
WO2012088348A2 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
CN103459614B (zh) 2011-01-05 2015-12-02 香港中文大学 胎儿性染色体的非侵入性产前基因分型
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
JP6153874B2 (ja) 2011-02-09 2017-06-28 ナテラ， インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
EP3202921B1 (en) 2011-02-24 2019-02-13 The Chinese University of Hong Kong Molecular testing of multiple pregnancies
WO2012118745A1 (en) 2011-02-28 2012-09-07 Arnold Oliphant Assay systems for detection of aneuploidy and sex determination
ES2572912T3 (es) 2011-04-12 2016-06-03 Verinata Health, Inc Resolución de fracciones de genoma mediante recuento de polimorfismos
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
WO2014014498A1 (en) * 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
EP2716766B1 (en) 2011-05-31 2016-09-28 Berry Genomics Co., Ltd. A device for detecting copy number of fetal chromosomes or tumor cell chromosomes
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
SI2561103T1 (sl) 2011-06-29 2014-11-28 Bgi Diagnosis Co., Ltd. Neinvazivna detekcija genetske anomalije ploda
WO2013019361A1 (en) 2011-07-07 2013-02-07 Life Technologies Corporation Sequencing methods
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
EP2764458B1 (en) 2011-10-06 2021-04-07 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013052913A2 (en) 2011-10-06 2013-04-11 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
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
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
AU2013232123B2 (en) 2012-03-13 2014-10-30 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
CN103374518B (zh) 2012-04-12 2018-03-27 维里纳塔健康公司 拷贝数变异的检测和分类
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
EP4276194B1 (en) 2012-05-21 2026-08-05 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
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
PL2893040T3 (pl) 2012-09-04 2019-05-31 Guardant Health Inc Sposoby wykrywania rzadkich mutacji i wariantu liczby kopii
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA3120521A1 (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
WO2014145078A1 (en) * 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation 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
US10964409B2 (en) 2013-10-04 2021-03-30 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6680680B2 (ja) 2013-10-07 2020-04-15 セクエノム， インコーポレイテッド 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
GB201319779D0 (en) 2013-11-08 2013-12-25 Cartagenia N V Genetic analysis method
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3149640B1 (en) 2014-05-30 2019-09-04 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
EP3730629A1 (en) 2014-10-10 2020-10-28 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
CA3207879C (en) 2017-01-24 2026-06-16 Sequenom, Inc. Methods and processes for assessment of genetic variations
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism

Also Published As

Publication number Publication date
JP7370862B2 (ja) 2023-10-30
JP7746338B2 (ja) 2025-09-30
US20200087710A1 (en) 2020-03-19
IL317916A (en) 2025-02-01
JP2023130525A (ja) 2023-09-20
IL269202B2 (en) 2025-08-01
US12421550B2 (en) 2025-09-23
WO2018170511A1 (en) 2018-09-20
CA3056118A1 (en) 2018-09-20
EP3596233A1 (en) 2020-01-22
IL269202A (en) 2019-11-28
EP3596233B1 (en) 2022-05-18
IL269202B1 (en) 2025-04-01
EP3998350A1 (en) 2022-05-18
EP3998350B1 (en) 2025-05-07
JP2020513812A (ja) 2020-05-21

Similar Documents

Publication Publication Date Title
IL290809A (en) Tau-protein targeting protacs and associated methods of use
IL259747A (en) Antibodies targeting fc receptor-like 5 and methods of use
IL282048A (en) Oxysterols and methods of use thereof
IL269202A (en) Methods and processes for assessment of genetic mosaicism
PT3548033T (pt) Compostos e respectivos métodos de utilização
PT3295951T (pt) Anticorpos anti-pvrig e métodos de utilização
HUE054159T2 (hu) HPK1 gátlók és azok alkalmazási módja
IL280863A (en) Autotaxin inhibitors and uses thereof
PT3250610T (pt) Anticorpos de fcrn e métodos de utilização dos mesmos
PT3368534T (pt) Ditosilato de valbenazina e polimorfos do mesmo
EP3541932A4 (en) INHIBITORS OF CRISPR-CAS9
HUE058755T2 (hu) Anti-tigit antigénkötõ proteinek és felhasználásuk módszerei
PT3215532T (pt) Anticorpos anti-tim3 e métodos de utilização
HUE058865T2 (hu) Rendszerek és módszerek az adalékanyagok
HUE046756T2 (hu) Benzoxazepin-oxazolidinon vegyületek és azok alkalmazási módszerei
DK3474996T3 (da) Tågeapparat og anvendelsesmåde
PL3353210T3 (pl) Przeciwciała anty-TIGIT i sposoby stosowania
HUE052373T2 (hu) Szubsztituált krománok és alkalmazási eljárások
MA41997A (fr) Combinaisons de cannabinoïdes et de n-acyléthanolamines
IL263050B (en) Derivatives of sobetirome
PT3280440T (pt) Anticorpos anti-c1s humanizados e métodos de utilização destes
EP3493872A4 (en) Microarrays and methods
EP3362855A4 (en) MICROSTRUCTURE MODEL
HUE054093T2 (hu) Anti-HtrA1 antitestek és azok alkalmazási eljárásai
BR112016024803A2 (pt) suportes abrasivos e métodos de sua formação