CA3076159C - Analyzing tumor dna in a cell-free sample - Google Patents

Analyzing tumor dna in a cell-free sample Download PDF

Info

Publication number
CA3076159C
CA3076159C CA3076159A CA3076159A CA3076159C CA 3076159 C CA3076159 C CA 3076159C CA 3076159 A CA3076159 A CA 3076159A CA 3076159 A CA3076159 A CA 3076159A CA 3076159 C CA3076159 C CA 3076159C
Authority
CA
Canada
Prior art keywords
nucleic acid
dna
chromosome
acid sequence
allele
Prior art date
Legal status (The legal status 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 status listed.)
Active
Application number
CA3076159A
Other languages
English (en)
French (fr)
Other versions
CA3076159A1 (en
Inventor
Yuk Ming Dennis Lo
Rossa Wai Kwun Chiu
Kwan Chee Chan
Ka Chun Chong
Benny Chung Ying Zee
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Chinese University of Hong Kong CUHK
Original Assignee
Chinese University of Hong Kong CUHK
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
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=39798126&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=CA3076159(C) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Chinese University of Hong Kong CUHK filed Critical Chinese University of Hong Kong CUHK
Publication of CA3076159A1 publication Critical patent/CA3076159A1/en
Application granted granted Critical
Publication of CA3076159C publication Critical patent/CA3076159C/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

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
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • C12Q1/6869—Methods for sequencing
    • 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
    • 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
    • C12Q1/6888—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
    • 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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • C12Q2600/112—Disease subtyping, staging or classification
    • 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
    • C12Q2600/154—Methylation markers
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/38—Pediatrics
    • G01N2800/385—Congenital anomalies
    • G01N2800/387—Down syndrome; Trisomy 18; Trisomy 13
    • 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)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Saccharide Compounds (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
CA3076159A 2007-07-23 2008-07-23 Analyzing tumor dna in a cell-free sample Active CA3076159C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US95143807P 2007-07-23 2007-07-23
US60/951,438 2007-07-23
CA3029497A CA3029497C (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA3029497A Division CA3029497C (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance

Publications (2)

Publication Number Publication Date
CA3076159A1 CA3076159A1 (en) 2009-01-29
CA3076159C true CA3076159C (en) 2022-05-24

Family

ID=39798126

Family Applications (10)

Application Number Title Priority Date Filing Date
CA3127930A Pending CA3127930A1 (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA3076159A Active CA3076159C (en) 2007-07-23 2008-07-23 Analyzing tumor dna in a cell-free sample
CA3176319A Pending CA3176319A1 (en) 2007-07-23 2008-07-23 Analyzing tumor dna in a cell-free sample
CA2694007A Active CA2694007C (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance
CA3029497A Active CA3029497C (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance
CA3200589A Pending CA3200589A1 (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance
CA2900927A Active CA2900927C (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA3076142A Active CA3076142C (en) 2007-07-23 2008-07-23 Analyzing tumor dna in a cell-free sample
CA2693081A Active CA2693081C (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA3009992A Active CA3009992C (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing

Family Applications Before (1)

Application Number Title Priority Date Filing Date
CA3127930A Pending CA3127930A1 (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing

Family Applications After (8)

Application Number Title Priority Date Filing Date
CA3176319A Pending CA3176319A1 (en) 2007-07-23 2008-07-23 Analyzing tumor dna in a cell-free sample
CA2694007A Active CA2694007C (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance
CA3029497A Active CA3029497C (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance
CA3200589A Pending CA3200589A1 (en) 2007-07-23 2008-07-23 Determining a nucleic acid sequence imbalance
CA2900927A Active CA2900927C (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA3076142A Active CA3076142C (en) 2007-07-23 2008-07-23 Analyzing tumor dna in a cell-free sample
CA2693081A Active CA2693081C (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA3009992A Active CA3009992C (en) 2007-07-23 2008-07-23 Diagnosing fetal chromosomal aneuploidy using genomic sequencing

Country Status (26)

Country Link
US (12) US12054776B2 (enExample)
EP (15) EP3656870A1 (enExample)
JP (17) JP5519500B2 (enExample)
KR (24) KR102561664B1 (enExample)
CN (11) CN103849684A (enExample)
AU (1) AU2008278839B2 (enExample)
BR (1) BRPI0814670B8 (enExample)
CA (10) CA3127930A1 (enExample)
CY (3) CY1114773T1 (enExample)
DK (6) DK2527471T3 (enExample)
EA (6) EA028642B1 (enExample)
ES (7) ES2571738T3 (enExample)
FI (1) FI2557517T3 (enExample)
HK (2) HK1199067A1 (enExample)
HR (5) HRP20251164T3 (enExample)
HU (3) HUE061020T2 (enExample)
IL (2) IL203311A (enExample)
LT (2) LT2557520T (enExample)
MX (3) MX2010000846A (enExample)
NZ (2) NZ582702A (enExample)
PL (4) PL2557520T3 (enExample)
PT (3) PT2183693E (enExample)
SG (1) SG183062A1 (enExample)
SI (4) SI2183693T2 (enExample)
WO (2) WO2009013496A1 (enExample)
ZA (1) ZA201000524B (enExample)

Families Citing this family (299)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8024128B2 (en) 2004-09-07 2011-09-20 Gene Security Network, Inc. System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data
DE602005009324D1 (de) 2005-04-06 2008-10-09 Maurice Stroun Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf
EP2703499A1 (en) 2005-06-02 2014-03-05 Fluidigm Corporation Analysis using microfluidic partitioning devices to generate single cell samples
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US8515679B2 (en) 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US20070027636A1 (en) * 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US20070178501A1 (en) * 2005-12-06 2007-08-02 Matthew Rabinowitz System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
CA2636855C (en) 2006-01-11 2016-09-27 Raindance Technologies, Inc. Microfluidic devices and methods of use in the formation and control of nanoreactors
EP2385143B1 (en) * 2006-02-02 2016-07-13 The Board of Trustees of the Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
US9562837B2 (en) 2006-05-11 2017-02-07 Raindance Technologies, Inc. Systems for handling microfludic droplets
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
US20080050739A1 (en) * 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
KR102561664B1 (ko) * 2007-07-23 2023-07-28 더 차이니즈 유니버시티 오브 홍콩 대규모 병렬 게놈 서열분석을 이용한 태아 염색체 이수성의 진단 방법
US7888127B2 (en) 2008-01-15 2011-02-15 Sequenom, Inc. Methods for reducing adduct formation for mass spectrometry analysis
WO2009105531A1 (en) * 2008-02-19 2009-08-27 Gene Security Network, Inc. Methods for cell genotyping
EP2271772B1 (en) * 2008-03-11 2014-07-16 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
DE102008019132A1 (de) * 2008-04-16 2009-10-22 Olympus Life Science Research Europa Gmbh Verfahren zur quantitativen Bestimmung der Kopienzahl einer vorbestimmten Sequenz in einer Probe
US20110092763A1 (en) * 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
EP2315629B1 (en) 2008-07-18 2021-12-15 Bio-Rad Laboratories, Inc. Droplet libraries
US12038438B2 (en) 2008-07-18 2024-07-16 Bio-Rad Laboratories, Inc. Enzyme quantification
AU2009279734A1 (en) * 2008-08-04 2010-02-11 Natera, Inc. Methods for allele calling and ploidy calling
EP3216874A1 (en) 2008-09-05 2017-09-13 TOMA Biosciences, Inc. Methods for stratifying and annotating cancer drug treatment options
US8962247B2 (en) 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
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
AU2015202167B2 (en) * 2008-09-20 2017-12-21 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
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
US8563242B2 (en) * 2009-08-11 2013-10-22 The Chinese University Of Hong Kong Method for detecting chromosomal aneuploidy
CN102597266A (zh) 2009-09-30 2012-07-18 纳特拉公司 无创性产前倍性调用的方法
CA2778926C (en) 2009-10-26 2018-03-27 Lifecodexx Ag Means and methods for non-invasive diagnosis of chromosomal aneuploidy
WO2011053790A2 (en) * 2009-10-30 2011-05-05 Fluidigm Corporation Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis
LT3783110T (lt) 2009-11-05 2023-01-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
US8620593B2 (en) 2009-11-06 2013-12-31 The Chinese University Of Hong Kong Size-based genomic analysis
PT2496720T (pt) 2009-11-06 2020-10-12 Univ Leland Stanford Junior Diagnóstico não-invasivo de rejeição de enxertos em pacientes sujeitos a transplantes de órgãos
AU2010330936B2 (en) * 2009-12-17 2014-05-22 Keygene N.V. Restriction enzyme based whole genome sequencing
DK2516680T3 (en) * 2009-12-22 2016-05-02 Sequenom Inc Method and kits to identify aneuploidy
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
CA2786564A1 (en) * 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
WO2012135730A2 (en) * 2011-03-30 2012-10-04 Verinata Health, Inc. Method for verifying bioassay samples
AU2015204302B2 (en) * 2010-01-19 2017-10-05 Verinata Health, Inc. Method for determining copy number variations
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
PL2366031T3 (pl) 2010-01-19 2015-08-31 Verinata Health Inc Metody sekwencjonowania w diagnostyce prenatalnej
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
AU2015203579B2 (en) * 2010-01-19 2017-12-21 Verinata Health, Inc. Sequencing methods and compositions for prenatal diagnoses
US20110312503A1 (en) * 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
US9249462B2 (en) 2010-01-26 2016-02-02 Nipd Genetics Ltd Methods and compositions for noninvasive prenatal diagnosis of fetal aneuploidies
CA2789425C (en) 2010-02-12 2020-04-28 Raindance Technologies, Inc. Digital analyte analysis with polymerase error correction
WO2011130880A1 (zh) * 2010-04-23 2011-10-27 深圳华大基因科技有限公司 胎儿染色体非整倍性的检测方法
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
WO2013052557A2 (en) * 2011-10-03 2013-04-11 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US8825412B2 (en) 2010-05-18 2014-09-02 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
CN103069006A (zh) * 2010-07-23 2013-04-24 艾索特里克斯遗传实验室有限责任公司 区别表达的胚胎或母源基因组区的鉴定及其用途
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US20120077185A1 (en) * 2010-08-06 2012-03-29 Tandem Diagnostics, Inc. Detection of genetic abnormalities and infectious disease
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
ES2552343T3 (es) * 2010-08-13 2015-11-27 Bgi Genomics Co., Ltd. Un procedimiento para el análisis de cromosomas de células
KR20130113447A (ko) 2010-09-24 2013-10-15 더 보드 어브 트러스티스 어브 더 리랜드 스탠포드 주니어 유니버시티 고정된 프라이머들을 이용하여 표적 dna의 직접적인 캡쳐, 증폭 및 서열화
US9267174B2 (en) 2010-10-26 2016-02-23 Stanford University Method of simultaneously screening for multiple genotypes and/or mutations
EP2646579B1 (en) * 2010-11-30 2017-06-14 The Chinese University Of Hong Kong Detection of genetic or molecular aberrations associated with cancer
US8877442B2 (en) 2010-12-07 2014-11-04 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale
EP2656263B1 (en) 2010-12-22 2019-11-06 Natera, Inc. Methods for non-invasive prenatal paternity testing
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
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
WO2012103031A2 (en) * 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
EP2902500B1 (en) * 2011-02-09 2017-01-11 Natera, Inc. Methods for non-invasive prenatal ploidy calling
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
EP3736281A1 (en) 2011-02-18 2020-11-11 Bio-Rad Laboratories, Inc. Compositions and methods for molecular labeling
US10900080B2 (en) * 2011-02-24 2021-01-26 The Chinese University Of Hong Kong Molecular testing of multiple pregnancies
EP2689029A1 (en) * 2011-03-22 2014-01-29 Life Technologies Corporation Identification of linkage using multiplex digital pcr
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
ES2806728T3 (es) 2011-04-12 2021-02-18 Verinata Health Inc Resolución de fracciones de genoma usando recuentos 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
EP2702168B1 (en) 2011-04-29 2018-01-17 Sequenom, Inc. Quantification of a minority nucleic acid species
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
AU2012261664B2 (en) 2011-06-29 2014-07-03 Bgi Genomics Co., Ltd. Noninvasive detection of fetal genetic abnormality
SG10201906124XA (en) * 2011-06-30 2019-08-27 Nat Univ Singapore Foetal nucleated red blood cell detection
US20130157875A1 (en) * 2011-07-20 2013-06-20 Anthony P. Shuber Methods for assessing genomic instabilities
KR101974492B1 (ko) * 2011-07-26 2019-05-02 베리나타 헬스, 인코포레이티드 샘플 중 상이한 이수성의 존재 또는 부재를 결정하는 방법
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
US20130110407A1 (en) * 2011-09-16 2013-05-02 Complete Genomics, Inc. Determining variants in genome of a heterogeneous sample
WO2013040773A1 (zh) * 2011-09-21 2013-03-28 深圳华大基因科技有限公司 确定单细胞染色体非整倍性的方法和系统
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
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013052907A2 (en) 2011-10-06 2013-04-11 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
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
WO2013055817A1 (en) 2011-10-11 2013-04-18 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
CN102329876B (zh) * 2011-10-14 2014-04-02 深圳华大基因科技有限公司 一种测定待检测样本中疾病相关核酸分子的核苷酸序列的方法
RU2638456C2 (ru) 2011-10-18 2017-12-13 Малтипликом Нв Неинвазивный диагностический тест днк для обнаружения анеуплоидии
WO2013062856A1 (en) 2011-10-27 2013-05-02 Verinata Health, Inc. Set membership testers for aligning nucleic acid samples
EP2602733A3 (en) * 2011-12-08 2013-08-14 Koninklijke Philips Electronics N.V. Biological cell assessment using whole genome sequence and oncological therapy planning using same
AU2013209499B2 (en) 2012-01-20 2018-05-10 Sequenom, Inc. Diagnostic processes that factor experimental conditions
US9605313B2 (en) 2012-03-02 2017-03-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
EP2831279B1 (en) 2012-03-26 2023-05-03 The Johns Hopkins University Rapid aneuploidy detection
CA2869371C (en) * 2012-04-06 2021-01-12 The Chinese University Of Hong Kong Noninvasive prenatal diagnosis of fetal trisomy by allelic ratio analysis using targeted massively parallel sequencing
US10385396B2 (en) 2012-04-19 2019-08-20 The Medical College Of Wisconsin, Inc. Highly sensitive surveillance using detection of cell free DNA
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
WO2013177206A2 (en) 2012-05-21 2013-11-28 Fluidigm Corporation Single-particle analysis of particle populations
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
ES2772029T3 (es) 2012-05-21 2020-07-07 Sequenom Inc Métodos y procesos para la evaluación no invasiva de variaciones genéticas
US11261494B2 (en) * 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
HK1206792A1 (en) * 2012-07-13 2016-01-15 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
AU2013292287A1 (en) 2012-07-19 2015-02-19 Ariosa Diagnostics, Inc. Multiplexed sequential ligation-based detection of genetic variants
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US10876152B2 (en) 2012-09-04 2020-12-29 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US11913065B2 (en) 2012-09-04 2024-02-27 Guardent Health, Inc. Systems and methods to detect rare mutations and copy number variation
SG10202000486VA (en) 2012-09-04 2020-03-30 Guardant Health Inc Systems and methods to detect rare mutations and copy number variation
US20160040229A1 (en) 2013-08-16 2016-02-11 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US9732390B2 (en) 2012-09-20 2017-08-15 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
EP2898100B9 (en) 2012-09-20 2023-08-02 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
EP2900837A4 (en) * 2012-09-26 2016-06-01 Agency Science Tech & Res BIOMARKERS FOR THE PRENATAL DIAGNOSIS OF THE DOWN SYNDROME
EP2904534B1 (en) 2012-10-04 2021-12-15 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK2728014T3 (en) * 2012-10-31 2016-01-25 Genesupport Sa A non-invasive method for the detection of fetal chromosomal aneuploidy
US10643738B2 (en) 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2014219001A1 (en) * 2013-02-20 2015-10-08 Bionano Genomics, Inc. Characterization of molecules in nanofluidics
JP6525894B2 (ja) * 2013-02-28 2019-06-05 ザ チャイニーズ ユニバーシティ オブ ホンコン 超並列ｒｎａ配列決定による母体血漿のトランスクリプトーム解析
WO2014133369A1 (ko) * 2013-02-28 2014-09-04 주식회사 테라젠이텍스 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치
US20130189684A1 (en) 2013-03-12 2013-07-25 Sequenom, Inc. Quantification of cell-specific nucleic acid markers
US9305756B2 (en) 2013-03-13 2016-04-05 Agena Bioscience, Inc. Preparation enhancements and methods of use for MALDI mass spectrometry
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
CA2901773A1 (en) 2013-03-15 2014-09-18 The Chinese University Of Hong Kong Determining fetal genomes for multiple fetus pregnancies
EP2981921B1 (en) 2013-04-03 2023-01-18 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014182726A2 (en) 2013-05-07 2014-11-13 Sequenom, Inc. Genetic markers for macular degeneration disorder treatment
CN112575075B (zh) 2013-05-24 2025-09-16 塞昆纳姆股份有限公司 遗传变异的非侵入性评估方法和过程
ES2971972T3 (es) * 2013-06-13 2024-06-10 Hoffmann La Roche Análisis estadístico para la determinación no invasiva de aneuploidía del cromosoma Y
IL283586B2 (en) 2013-06-21 2023-11-01 Sequenom Inc Methods and processes for non-invasive evaluation of genetic variations
CN104520437B (zh) * 2013-07-17 2016-09-14 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
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
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
PL3053071T3 (pl) 2013-10-04 2024-03-18 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
US10438691B2 (en) 2013-10-07 2019-10-08 Sequenom, Inc. Non-invasive assessment of chromosome alterations using change in subsequence mappability
WO2015061359A1 (en) * 2013-10-21 2015-04-30 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
CN105765076B (zh) * 2013-12-17 2019-07-19 深圳华大基因股份有限公司 一种染色体非整倍性检测方法及装置
SG10201804519RA (en) 2013-12-28 2018-07-30 Guardant Health Inc Methods and systems for detecting genetic variants
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
JP6659575B2 (ja) 2014-04-21 2020-03-04 ナテラ， インコーポレイテッド 変異の検出および染色体分節の倍数性
RU2602366C2 (ru) * 2014-05-21 2016-11-20 Общество С Ограниченной Ответственностью "Тестген" Способ получения днк-праймеров и зондов для малоинвазивной пренатальной пцр-диагностики трисомии 21-й хромосомы у плода по крови беременной женщины и диагностический набор для ее осуществления
KR101663171B1 (ko) * 2014-05-27 2016-10-14 이원 다이애그노믹스 게놈센타(주) 다운증후군 진단을 위한 바이오마커 및 그의 용도
AU2015266665C1 (en) 2014-05-30 2021-12-23 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
WO2016003047A1 (ko) * 2014-07-01 2016-01-07 바이오코아 주식회사 디지털 ｐｃｒ을 이용하여 임부의 혈액 또는 혈장으로부터 태아의 유전자 정보를 분석하는 방법
KR20160010277A (ko) * 2014-07-18 2016-01-27 에스케이텔레콤 주식회사 산모의 무세포 dna의 차세대 서열분석을 통한 태아의 단일유전자 유전변이의 예측방법
HUE056267T2 (hu) 2014-07-18 2022-02-28 Univ Hong Kong Chinese DNS-keverékek szöveteinek metilációs mintázatelemzése
WO2016010401A1 (ko) * 2014-07-18 2016-01-21 에스케이텔레콘 주식회사 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
JP2017522908A (ja) 2014-07-25 2017-08-17 ユニヴァーシティ オブ ワシントン セルフリーｄｎａを生じる組織及び／又は細胞タイプを決定する方法、並びにそれを用いて疾患又は異常を識別する方法
EP3760739B1 (en) 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3230469B1 (en) 2014-12-12 2019-04-03 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
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
DK3256605T3 (da) 2015-02-10 2022-03-14 Univ Hong Kong Chinese Påvisning af mutationer til cancerscreening og føtal analyse
CN104789466B (zh) * 2015-05-06 2018-03-13 安诺优达基因科技(北京)有限公司 检测染色体非整倍性的试剂盒和装置
CN104789686B (zh) * 2015-05-06 2018-09-07 浙江安诺优达生物科技有限公司 检测染色体非整倍性的试剂盒和装置
EP4428863A3 (en) 2015-05-11 2024-12-11 Natera, Inc. Methods and compositions for determining ploidy
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
EP3298166B1 (en) 2015-05-22 2020-02-12 Nipd Genetics Public Company Limited Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
CN104951671B (zh) * 2015-06-10 2017-09-19 东莞博奥木华基因科技有限公司 基于单样本外周血检测胎儿染色体非整倍性的装置
AU2016281766B2 (en) * 2015-06-24 2019-05-09 Oxford BioDynamics PLC Epigenetic chromosome interactions
US20180211002A1 (en) 2015-07-13 2018-07-26 Agilent Technologies Belgium Nv System and methodology for the analysis of genomic data obtained from a subject
EP3118323A1 (en) 2015-07-13 2017-01-18 Cartagenia N.V. System and methodology for the analysis of genomic data obtained from a subject
EP3739061B1 (en) 2015-07-20 2022-03-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
ES2960201T3 (es) 2015-07-23 2024-03-01 Univ Hong Kong Chinese Análisis de los patrones de fragmentación del ADN acelular
MY188348A (en) 2015-08-12 2021-12-02 Univ Hong Kong Chinese Single-molecule sequencing of plasma dna
EP3347466B9 (en) 2015-09-08 2024-06-26 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
US10774375B2 (en) 2015-09-18 2020-09-15 Agena Bioscience, Inc. Methods and compositions for the quantitation of mitochondrial nucleic acid
WO2017051996A1 (ko) * 2015-09-24 2017-03-30 에스케이텔레콤 주식회사 비침습적 태아 염색체 이수성 판별 방법
CN105132572B (zh) * 2015-09-25 2018-03-02 邯郸市康业生物科技有限公司 一种无创产前筛查21‑三体综合征试剂盒
KR101848438B1 (ko) * 2015-10-29 2018-04-13 바이오코아 주식회사 디지털 pcr을 이용한 산전진단 방법
WO2017106768A1 (en) 2015-12-17 2017-06-22 Guardant Health, Inc. Methods to determine tumor gene copy number by analysis of cell-free dna
GB201522665D0 (en) * 2015-12-22 2016-02-03 Premaitha Ltd Detection of chromosome abnormalities
KR101817180B1 (ko) * 2016-01-20 2018-01-10 이원다이애그노믹스(주) 염색체 이상 판단 방법
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
KR102465122B1 (ko) 2016-02-12 2022-11-09 리제너론 파마슈티칼스 인코포레이티드 비정상적인 핵형을 검출하기 위한 방법 및 시스템
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
WO2017192589A1 (en) 2016-05-02 2017-11-09 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services Neutralizing antibodies to influenza ha and their use and identification
KR101879329B1 (ko) * 2016-06-13 2018-07-17 충북대학교 산학협력단 유전자 차별 발현 분석을 위한 RNA-seq 발현량 데이터 시뮬레이션 방법 및 이를 기록한 기록매체
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
CA3037366A1 (en) 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
CA3126055C (en) 2016-09-30 2025-08-12 Guardant Health, Inc. MULTIRESOLUTION ANALYSIS METHODS FOR ACELLULAR NUCLEIC ACIDS
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
CA3041647A1 (en) 2016-10-24 2018-05-03 The Chinese University Of Hong Kong Methods and systems for tumor detection
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
JP2020503003A (ja) 2016-11-30 2020-01-30 ザ チャイニーズ ユニバーシティ オブ ホンコン 尿および他のサンプルにおける無細胞ｄｎａの分析
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
US20200255896A1 (en) * 2017-01-11 2020-08-13 Quest Diagnostics Investments Llc Method for non-invasive prenatal screening for aneuploidy
JP7237003B2 (ja) 2017-01-24 2023-03-10 セクエノム， インコーポレイテッド 遺伝子片の評価のための方法およびプロセス
US10633713B2 (en) 2017-01-25 2020-04-28 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
AU2018225348A1 (en) 2017-02-21 2019-07-18 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
IL269202B2 (en) 2017-03-17 2025-08-01 Sequenom Inc Methods and processes for assessment of genetic mosaicism
CA3067637A1 (en) 2017-06-20 2018-12-27 The Medical College Of Wisconsin, Inc. Assessing transplant complication risk with total cell-free dna
PL3658689T3 (pl) 2017-07-26 2021-10-18 Trisomytest, S.R.O. Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską
DK3658684T3 (da) 2017-07-26 2023-10-09 Univ Hong Kong Chinese Forbedring af cancerscreening ved hjælp af cellefrie, virale nukleinsyrer
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
EA202090348A1 (ru) 2017-08-04 2020-05-06 Трисомытест, С.Р.О. Способ неинвазивного пренатального выявления аномалий половых хромосом у плода и определения пола плода в случае одноплодной и двухплодной беременности
US11646100B2 (en) 2017-08-04 2023-05-09 Billiontoone, Inc. Target-associated molecules for characterization associated with biological targets
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
WO2019043656A1 (en) 2017-09-01 2019-03-07 Genus Plc METHODS AND SYSTEMS FOR ASSESSING AND / OR QUANTIFYING POPULATIONS OF SPERMATOZOIDS WITH SEXUAL ASYMMETRY
JP2021500883A (ja) 2017-10-27 2021-01-14 ジュノ ダイアグノスティックス，インク． 超微量リキッドバイオプシーのためのデバイス、システム、および方法
US11168356B2 (en) 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
CA3085933A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
CN112365927B (zh) * 2017-12-28 2023-08-25 安诺优达基因科技(北京)有限公司 Cnv检测装置
WO2019135790A1 (en) 2018-01-05 2019-07-11 Billiontoone, Inc. Quality control templates for ensuring validity of sequencing-based assays
CN108282396B (zh) * 2018-02-13 2022-02-22 湖南快乐阳光互动娱乐传媒有限公司 一种im集群中的多级消息广播方法及系统
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
KR102099151B1 (ko) * 2018-03-05 2020-04-10 서강대학교산학협력단 마이크로웰 어레이를 이용한 dPCR 분석방법 및 분석장치
AU2019244115A1 (en) 2018-03-30 2020-11-19 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
WO2019195225A1 (en) 2018-04-02 2019-10-10 Illumina, Inc. Compositions and methods for making controls for sequence-based genetic testing
WO2019195346A1 (en) 2018-04-02 2019-10-10 Progenity, Inc. Methods, systems, and compositions for counting nucleic acid molecules
AU2019251504B2 (en) 2018-04-14 2025-09-25 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor DNA
EP3788172B1 (en) 2018-05-03 2025-04-02 The Chinese University Of Hong Kong Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures
EP3801623A4 (en) 2018-06-01 2022-03-23 Grail, LLC Convolutional neural network systems and methods for data classification
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
EP3847276A2 (en) * 2018-09-04 2021-07-14 Guardant Health, Inc. Methods and systems for detecting allelic imbalance in cell-free nucleic acid samples
EP3847280A1 (en) 2018-09-07 2021-07-14 Sequenom, Inc. Methods, and systems to detect transplant rejection
US20210407621A1 (en) 2018-10-12 2021-12-30 Nantomics, Llc Prenatal purity assessments using bambam
ES2996898T3 (en) * 2018-10-31 2025-02-13 Guardant Health Inc Method and system for calibrating epigenetic partitioning assays
CN109545379B (zh) * 2018-12-05 2021-11-09 易必祥 基于基因大数据的治疗系统
US11581062B2 (en) 2018-12-10 2023-02-14 Grail, Llc Systems and methods for classifying patients with respect to multiple cancer classes
JP2020108548A (ja) * 2019-01-04 2020-07-16 株式会社大一商会 遊技機
JP6783437B2 (ja) * 2019-01-04 2020-11-11 株式会社大一商会 遊技機
WO2020160414A1 (en) 2019-01-31 2020-08-06 Guardant Health, Inc. Compositions and methods for isolating cell-free dna
CA3128894A1 (en) 2019-02-19 2020-08-27 Sequenom, Inc. Compositions, methods, and systems to detect hematopoietic stem cell transplantation status
KR20200109544A (ko) * 2019-03-13 2020-09-23 울산대학교 산학협력단 공통 유전자 추출에 의한 다중 암 분류 방법
US12098429B2 (en) 2019-03-25 2024-09-24 The Chinese University Of Hong Kong Determining linear and circular forms of circulating nucleic acids
WO2020206170A1 (en) 2019-04-02 2020-10-08 Progenity, Inc. Methods, systems, and compositions for counting nucleic acid molecules
US11931674B2 (en) 2019-04-04 2024-03-19 Natera, Inc. Materials and methods for processing blood samples
US12497662B2 (en) 2019-04-16 2025-12-16 Grail, Inc. Systems and methods for tumor fraction estimation from small variants
RU2717023C1 (ru) * 2019-04-24 2020-03-17 Общество с ограниченной ответственностью "ГЕНОТЕК ИТ" Способ определения кариотипа плода беременной женщины на основании секвенирования гибридных прочтений, состоящих из коротких фрагментов внеклеточной ДНК
EP3980559A1 (en) 2019-06-06 2022-04-13 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
IL294153B2 (en) 2019-08-16 2023-09-01 Univ Hong Kong Chinese Determination of base modifications of nucleic acids
TWI724710B (zh) * 2019-08-16 2021-04-11 財團法人工業技術研究院 建構數位化疾病模組的方法及裝置
EP4041307A4 (en) * 2019-09-30 2023-10-18 Myome, Inc. POLYGENIC RISK SCORE FOR IN VITRO FERTILIZATION
CN114585749B (zh) * 2019-10-16 2024-09-03 斯蒂拉科技公司 核酸序列浓度的确定
WO2021137770A1 (en) 2019-12-30 2021-07-08 Geneton S.R.O. Method for fetal fraction estimation based on detection and interpretation of single nucleotide variants
AU2021205853A1 (en) * 2020-01-08 2023-11-23 Grail, Inc. Biterminal dna fragment types in cell-free samples and uses thereof
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US20230120825A1 (en) 2020-02-28 2023-04-20 Laboratory Corporation Of America Holdings Compositions, Methods, and Systems for Paternity Determination
WO2021229662A1 (ja) 2020-05-11 2021-11-18 日本電気株式会社 判定装置、判定方法および記録媒体
WO2021229654A1 (ja) * 2020-05-11 2021-11-18 日本電気株式会社 判定装置、判定方法および記録媒体
US20220245934A1 (en) * 2020-05-11 2022-08-04 Nec Corporation Determination device, determination method, and recording medium
WO2021237105A1 (en) * 2020-05-22 2021-11-25 Invitae Corporation Methods for determining a genetic variation
JP2023537215A (ja) * 2020-07-13 2023-08-31 ザ チャイニーズ ユニバーシティ オブ ホンコン 無細胞核酸についてのヌクレアーゼに関連する末端シグネチャ分析
JP2023552015A (ja) * 2020-12-02 2023-12-14 イルミナ ソフトウェア， インコーポレイテッド 遺伝子変異を検出するためのシステム及び方法
CN114645080A (zh) * 2020-12-21 2022-06-21 高嵩 一种利用多态性位点和靶位点测序检测胎儿遗传变异的方法
WO2022246291A1 (en) * 2021-05-21 2022-11-24 Invitae Corporation Methods for determining a genetic variation
US12252745B2 (en) 2021-09-02 2025-03-18 Enumerix, Inc. Detection and digital quantitation of multiple targets
CN113981062B (zh) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 以非生父和母亲dna评估胎儿dna浓度的方法及应用
WO2023183812A2 (en) 2022-03-21 2023-09-28 Billion Toone, Inc. Molecule counting of methylated cell-free dna for treatment monitoring
WO2024058850A1 (en) * 2022-09-16 2024-03-21 Myriad Women's Health, Inc. Rna-facs for rare cell isolation and detection of genetic variants
US20240384334A1 (en) * 2023-05-09 2024-11-21 Centre For Novostics Efficient digital measurement of long nucleic acid fragments
WO2024242641A1 (en) 2023-05-25 2024-11-28 Medirex Group Academy N.O. Method for detection of samples with insufficient amount of fetal and circulating tumor dna fragments for non-invasive genetic testing
WO2024253600A1 (en) 2023-06-07 2024-12-12 Univerzita Komenského v Bratislave Method for estimation of cell-free dna mixture proportions based on telomere-derived fragments
CN118098345B (zh) * 2024-04-28 2024-08-09 深圳市真迈生物科技有限公司 一种染色体非整倍体的检测方法、装置、设备及存储介质

Family Cites Families (111)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5641628A (en) 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
AU2765992A (en) 1991-10-03 1993-05-03 Indiana University Foundation Method for screening for alzheimer's disease
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
US6143496A (en) 1997-04-17 2000-11-07 Cytonix Corporation Method of sampling, amplifying and quantifying segment of nucleic acid, polymerase chain reaction assembly having nanoliter-sized sample chambers, and method of filling assembly
US6558901B1 (en) * 1997-05-02 2003-05-06 Biomerieux Vitek Nucleic acid assays
US6566101B1 (en) 1997-06-16 2003-05-20 Anthony P. Shuber Primer extension methods for detecting nucleic acids
US20030022207A1 (en) 1998-10-16 2003-01-30 Solexa, Ltd. Arrayed polynucleotides and their use in genome analysis
ATE556149T1 (de) 1999-02-23 2012-05-15 Caliper Life Sciences Inc Manipulation von mikropartikeln in mikrofluidischen systemen
AUPQ008799A0 (en) * 1999-04-30 1999-05-27 Tillett, Daniel Genome sequencing
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
US6440706B1 (en) 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
ATE444532T1 (de) * 1999-10-13 2009-10-15 Sequenom Inc Verfahren zur identifizierung von polymorphen genetischen markern
GB0009784D0 (en) * 2000-04-20 2000-06-07 Simeg Limited Methods for clinical diagnosis
US20030087231A1 (en) 2000-05-19 2003-05-08 Albertson Donna G. Methods and compositions for preparation of a polynucleotide array
GB0016742D0 (en) * 2000-07-10 2000-08-30 Simeg Limited Diagnostic method
US6664056B2 (en) * 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
US8898021B2 (en) * 2001-02-02 2014-11-25 Mark W. Perlin Method and system for DNA mixture analysis
JP2002272497A (ja) 2001-03-15 2002-09-24 Venture Link Co Ltd 癌の診断方法、およびその診断用ベクター
US6960437B2 (en) 2001-04-06 2005-11-01 California Institute Of Technology Nucleic acid amplification utilizing microfluidic devices
US20020164816A1 (en) 2001-04-06 2002-11-07 California Institute Of Technology Microfluidic sample separation device
US7118907B2 (en) 2001-06-06 2006-10-10 Li-Cor, Inc. Single molecule detection systems and methods
US20050037388A1 (en) 2001-06-22 2005-02-17 University Of Geneva Method for detecting diseases caused by chromosomal imbalances
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
GT200200183A (es) * 2001-09-28 2003-05-23 Procedimiento para preparar derivados de heterocicloalquilsulfonil pirazol
AR036741A1 (es) 2001-10-05 2004-09-29 Combinatorx Inc Combinaciones para el tratamiento de los trastornos inmunoinflamatorios
JP2005509871A (ja) 2001-11-20 2005-04-14 エグザクト サイエンシーズ コーポレイション 自動化サンプル調製方法および装置
WO2003048295A1 (en) 2001-11-30 2003-06-12 Fluidigm Corporation Microfluidic device and methods of using same
US7691333B2 (en) 2001-11-30 2010-04-06 Fluidigm Corporation Microfluidic device and methods of using same
US20030180765A1 (en) 2002-02-01 2003-09-25 The Johns Hopkins University Digital amplification for detection of mismatch repair deficient tumor cells
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
CA2477611A1 (en) 2002-03-01 2003-09-12 Ravgen, Inc. Rapid analysis of variations in a genome
US7442506B2 (en) 2002-05-08 2008-10-28 Ravgen, Inc. Methods for detection of genetic disorders
US20070178478A1 (en) * 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7727720B2 (en) * 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
JP2006512924A (ja) 2002-08-15 2006-04-20 ジェンザイム・コーポレーション 脳内皮細胞発現パターン
KR100500697B1 (ko) 2002-10-21 2005-07-12 한국에너지기술연구원 다단계 열회수형 물유동층 열교환기
US7704687B2 (en) 2002-11-15 2010-04-27 The Johns Hopkins University Digital karyotyping
WO2004065629A1 (en) 2003-01-17 2004-08-05 The Chinese University Of Hong Kong Circulating mrna as diagnostic markers for pregnancy-related disorders
SG173221A1 (en) 2003-02-28 2011-08-29 Ravgen Inc Methods for detection of genetic disorders
US8394582B2 (en) 2003-03-05 2013-03-12 Genetic Technologies, Inc Identification of fetal DNA and fetal cell markers in maternal plasma or serum
EP1606417A2 (en) * 2003-03-07 2005-12-21 Rubicon Genomics Inc. In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna
US20050112604A1 (en) 2003-03-14 2005-05-26 Akihide Fujimoto Loss of heterozygosity of the DNA markers in the 12q22-23 region
US7476363B2 (en) 2003-04-03 2009-01-13 Fluidigm Corporation Microfluidic devices and methods of using same
US20040197832A1 (en) 2003-04-03 2004-10-07 Mor Research Applications Ltd. Non-invasive prenatal genetic diagnosis using transcervical cells
US7604965B2 (en) 2003-04-03 2009-10-20 Fluidigm Corporation Thermal reaction device and method for using the same
AU2004228678A1 (en) 2003-04-03 2004-10-21 Fluidigm Corp. Microfluidic devices and methods of using same
US20050145496A1 (en) 2003-04-03 2005-07-07 Federico Goodsaid Thermal reaction device and method for using the same
RU2249820C1 (ru) * 2003-08-18 2005-04-10 Лактионов Павел Петрович Способ ранней диагностики заболеваний, связанных с нарушением функционирования генетического аппарата клетки
AU2004270220B2 (en) 2003-09-05 2009-03-05 The Chinese University Of Hong Kong Method for non-invasive prenatal diagnosis
US20050282213A1 (en) * 2003-09-22 2005-12-22 Trisogen Biotechnology Limited Partnership Methods and kits useful for detecting an alteration in a locus copy number
CA2541706C (en) 2003-10-08 2014-02-18 The Trustees Of Boston University Methods for prenatal diagnosis of chromosomal abnormalities
ATE435301T1 (de) 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
US20050221341A1 (en) * 2003-10-22 2005-10-06 Shimkets Richard A Sequence-based karyotyping
CA2544178A1 (en) 2003-10-30 2005-05-19 Tufts-New England Medical Center Prenatal diagnosis using cell-free fetal dna in amniotic fluid
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
US7709194B2 (en) 2004-06-04 2010-05-04 The Chinese University Of Hong Kong Marker for prenatal diagnosis and monitoring
DE102004036285A1 (de) * 2004-07-27 2006-02-16 Advalytix Ag Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe
CN101068937A (zh) * 2004-09-20 2007-11-07 匹兹堡大学 多重模式复合反应测序方法
CN1779688A (zh) * 2004-11-22 2006-05-31 寰硕数码股份有限公司 交互式医疗信息系统及方法
US7645576B2 (en) 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
US7718367B2 (en) 2005-03-18 2010-05-18 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
US20070196820A1 (en) 2005-04-05 2007-08-23 Ravi Kapur Devices and methods for enrichment and alteration of cells and other particles
DE602005009324D1 (de) 2005-04-06 2008-10-09 Maurice Stroun Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf
EP2703499A1 (en) 2005-06-02 2014-03-05 Fluidigm Corporation Analysis using microfluidic partitioning devices to generate single cell samples
WO2007001259A1 (en) 2005-06-16 2007-01-04 Government Of The United States Of America, Represented By The Secretary, Department Of Health And Human Services Methods and materials for identifying polymorphic variants, diagnosing susceptibilities, and treating disease
US20070059680A1 (en) 2005-09-15 2007-03-15 Ravi Kapur System for cell enrichment
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
US20070184511A1 (en) * 2005-11-18 2007-08-09 Large Scale Biology Corporation Method for Diagnosing a Person Having Sjogren's Syndrome
AU2006318425B2 (en) * 2005-11-26 2013-05-02 Natera, Inc. System and method for cleaning noisy genetic data and using data to make predictions
EP2385143B1 (en) 2006-02-02 2016-07-13 The Board of Trustees of the Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
US8221978B2 (en) 2006-02-15 2012-07-17 Agilent Technologies, Inc. Normalization probes for comparative genome hybridization arrays
DK2351858T3 (da) 2006-02-28 2015-04-07 Univ Louisville Res Found Påvisning af føtale kromosomabnormiteter ved anvendelse af tandem-enkeltnukleotid-polymorfismer
WO2007112418A2 (en) 2006-03-28 2007-10-04 Baylor College Of Medicine Screening for down syndrome
US8058055B2 (en) 2006-04-07 2011-11-15 Agilent Technologies, Inc. High resolution chromosomal mapping
US7754428B2 (en) 2006-05-03 2010-07-13 The Chinese University Of Hong Kong Fetal methylation markers
US7901884B2 (en) 2006-05-03 2011-03-08 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
EP2548972A1 (en) 2006-06-14 2013-01-23 Verinata Health, Inc Methods for the diagnosis of fetal abnormalities
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
EP2061801A4 (en) 2006-06-14 2009-11-11 Living Microsystems Inc DIAGNOSIS OF FETAL ANOMALIES BY COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS
EP2029778B1 (en) 2006-06-14 2018-05-02 Verinata Health, Inc Diagnosis of fetal abnormalities
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
WO2008111990A1 (en) 2006-06-14 2008-09-18 Cellpoint Diagnostics, Inc. Rare cell analysis using sample splitting and dna tags
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
CA2655269A1 (en) 2006-06-16 2007-12-21 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
WO2008014516A2 (en) 2006-07-28 2008-01-31 Living Microsystems, Inc. Selection of cells using biomarkers
JP4379742B2 (ja) 2006-10-23 2009-12-09 ソニー株式会社 再生装置および再生方法、並びにプログラム
EP4543102A3 (en) * 2007-01-30 2025-06-18 InterDigital Patent Holdings, Inc. Implicit drx cycle length adjustment control in lte_active mode
WO2008098142A2 (en) 2007-02-08 2008-08-14 Sequenom, Inc. Nucleic acid-based tests for rhd typing, gender determination and nucleic acid quantification
US20100094562A1 (en) 2007-05-04 2010-04-15 Mordechai Shohat System, Method and Device for Comprehensive Individualized Genetic Information or Genetic Counseling
CN103263439B (zh) 2007-05-24 2015-04-22 埃普塞斯有限责任两合公司 Cd34干细胞相关方法和组合物
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
KR102561664B1 (ko) * 2007-07-23 2023-07-28 더 차이니즈 유니버시티 오브 홍콩 대규모 병렬 게놈 서열분석을 이용한 태아 염색체 이수성의 진단 방법
US20090053719A1 (en) 2007-08-03 2009-02-26 The Chinese University Of Hong Kong Analysis of nucleic acids by digital pcr
PT2200622E (pt) 2007-09-19 2012-11-06 Pluristem Ltd Células aderentes provenientes de tecido adiposo ou placentário e respetiva utilização terapêutica
WO2009051842A2 (en) 2007-10-18 2009-04-23 The Johns Hopkins University Detection of cancer by measuring genomic copy number and strand length in cell-free dna
US20100000804A1 (en) 2008-07-02 2010-01-07 Ming-Hsiang Yeh Solar vehicle
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
US8620593B2 (en) 2009-11-06 2013-12-31 The Chinese University Of Hong Kong Size-based genomic analysis
KR20110072531A (ko) 2009-12-23 2011-06-29 재단법인대구경북과학기술원 전력 거래 서비스 방법 및 시스템
SG185543A1 (en) 2010-05-14 2012-12-28 Fluidigm Corp Assays for the detection of genotype, mutations, and/or aneuploidy
EP2646579B1 (en) 2010-11-30 2017-06-14 The Chinese University Of Hong Kong Detection of genetic or molecular aberrations associated with cancer
JP2012128587A (ja) 2010-12-14 2012-07-05 Mitsubishi Electric Corp 救援システム及び救援指示装置及び救援装置及び対象装置及びコンピュータプログラム及び救援指示方法
KR101974492B1 (ko) 2011-07-26 2019-05-02 베리나타 헬스, 인코포레이티드 샘플 중 상이한 이수성의 존재 또는 부재를 결정하는 방법
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
JP2016131552A (ja) 2015-01-22 2016-07-25 クラシエフーズ株式会社 即席泡状固形ゼリーデザート用粉末
CN107867186B (zh) 2016-09-27 2021-02-23 华为技术有限公司 电动汽车以及电动汽车之间充电的方法

Also Published As

Publication number Publication date
JP7490219B2 (ja) 2024-05-27
EA201201551A1 (ru) 2013-08-30
ES2571738T3 (es) 2016-05-26
HK1177768A1 (en) 2013-08-30
US8706422B2 (en) 2014-04-22
EP2527471B1 (en) 2020-03-04
JP6522554B2 (ja) 2019-05-29
EP2557519A3 (en) 2014-07-23
HUE061020T2 (hu) 2023-05-28
SI2557520T1 (sl) 2021-08-31
PL2514842T3 (pl) 2016-08-31
EA035451B9 (ru) 2020-09-09
KR102222378B1 (ko) 2021-03-04
MX2010000846A (es) 2010-04-21
KR101972994B1 (ko) 2019-04-29
KR20160113147A (ko) 2016-09-28
KR102197512B1 (ko) 2021-01-04
JP2022173465A (ja) 2022-11-18
DK2183693T4 (en) 2019-02-11
EP2527471A3 (en) 2012-12-26
KR102147626B9 (ko) 2024-08-22
JP7081829B2 (ja) 2022-06-07
EP2514842A3 (en) 2012-12-26
JP7381116B2 (ja) 2023-11-15
KR101646978B1 (ko) 2016-08-09
NZ582702A (en) 2012-07-27
PT2557520T (pt) 2021-05-06
US20090087847A1 (en) 2009-04-02
EP2514842A2 (en) 2012-10-24
CY1114773T1 (el) 2016-12-14
EP2183693B1 (en) 2014-01-01
KR20190114041A (ko) 2019-10-08
ES2792802T3 (es) 2020-11-12
KR102443163B1 (ko) 2022-09-14
CA2693081A1 (en) 2009-01-29
US20140256560A1 (en) 2014-09-11
KR20220127377A (ko) 2022-09-19
US8972202B2 (en) 2015-03-03
US20140045181A1 (en) 2014-02-13
CA2900927A1 (en) 2009-01-29
EP4134960A1 (en) 2023-02-15
KR20200055151A (ko) 2020-05-20
EA201791612A3 (ru) 2018-03-30
CA3029497A1 (en) 2009-01-29
KR102060911B1 (ko) 2019-12-30
JP2023178477A (ja) 2023-12-14
CN106886688B (zh) 2020-07-10
CA2900927C (en) 2018-08-14
KR102339760B1 (ko) 2021-12-14
JP5736170B2 (ja) 2015-06-17
CY1117525T1 (el) 2017-04-26
CA2694007A1 (en) 2009-01-29
KR20250002752A (ko) 2025-01-07
EP3540739A1 (en) 2019-09-18
DK2527471T3 (da) 2020-05-18
CA3009992A1 (en) 2009-01-29
KR102561664B1 (ko) 2023-07-28
JP7026303B2 (ja) 2022-02-28
KR101896167B1 (ko) 2018-09-07
BRPI0814670A2 (pt) 2015-02-18
JP2019000113A (ja) 2019-01-10
CN106886688A (zh) 2017-06-23
JP2024056078A (ja) 2024-04-19
KR102458210B1 (ko) 2022-10-24
CN101849236A (zh) 2010-09-29
JP5519500B2 (ja) 2014-06-11
EP2183692A1 (en) 2010-05-12
EA201791612A2 (ru) 2017-11-30
KR20180121695A (ko) 2018-11-07
CN106834474B (zh) 2019-09-24
KR20190143494A (ko) 2019-12-30
KR20170127073A (ko) 2017-11-20
PL2183693T4 (pl) 2015-11-30
EA035451B1 (ru) 2020-06-18
KR20220146689A (ko) 2022-11-01
US11725245B2 (en) 2023-08-15
KR102128960B1 (ko) 2020-07-02
SI2557517T1 (sl) 2023-03-31
CN107083425A (zh) 2017-08-22
DK2557519T3 (da) 2020-09-21
LT2557520T (lt) 2021-05-25
SI2183693T2 (sl) 2019-02-28
KR20210006468A (ko) 2021-01-18
US20250320558A1 (en) 2025-10-16
KR20210028263A (ko) 2021-03-11
PL2183693T5 (pl) 2019-04-30
US20250122566A1 (en) 2025-04-17
JP2010534068A (ja) 2010-11-04
US20140329696A1 (en) 2014-11-06
JP2014073134A (ja) 2014-04-24
JP2022040312A (ja) 2022-03-10
EP2557519A2 (en) 2013-02-13
AU2008278843A1 (en) 2009-01-29
JP6695392B2 (ja) 2020-05-20
IL203311A (en) 2014-07-31
CA3029497C (en) 2023-08-08
JP7634889B2 (ja) 2025-02-25
CA3009992C (en) 2021-10-19
CA3076142C (en) 2023-01-03
CA2693081C (en) 2016-01-26
EP2557519B1 (en) 2020-08-19
KR20160113146A (ko) 2016-09-28
MX341573B (es) 2016-08-25
CN106676188A (zh) 2017-05-17
CA3076159A1 (en) 2009-01-29
EP3540739B1 (en) 2025-07-30
EA201000231A1 (ru) 2010-06-30
EP2183693A1 (en) 2010-05-12
ES3040072T3 (en) 2025-10-28
EA017966B1 (ru) 2013-04-30
EA039167B1 (ru) 2021-12-13
EP2557520A2 (en) 2013-02-13
EP2557520B1 (en) 2021-04-07
EP3745405A1 (en) 2020-12-02
ES2933486T3 (es) 2023-02-09
HRP20160493T1 (hr) 2016-07-15
US20140256559A1 (en) 2014-09-11
HRP20230033T3 (hr) 2023-03-03
KR102147626B1 (ko) 2020-08-24
EP3540739C0 (en) 2025-07-30
EP2557517B1 (en) 2022-10-26
SI2183693T1 (sl) 2014-02-28
CN103853916A (zh) 2014-06-11
DK2183693T5 (en) 2019-02-18
EP2557520A3 (en) 2015-04-29
KR102076438B1 (ko) 2020-02-11
WO2009013496A1 (en) 2009-01-29
KR20190114039A (ko) 2019-10-08
US20230323462A1 (en) 2023-10-12
EP2557518A3 (en) 2014-10-08
DK2514842T3 (en) 2016-05-30
KR102112438B1 (ko) 2020-06-04
KR20160030404A (ko) 2016-03-17
KR101966262B1 (ko) 2019-04-08
JP7761951B2 (ja) 2025-10-29
HK1199067A1 (en) 2015-06-19
US20140329695A1 (en) 2014-11-06
KR101916456B1 (ko) 2018-11-07
DK2557517T3 (da) 2022-11-28
JP2017148073A (ja) 2017-08-31
EP3892736A1 (en) 2021-10-13
AU2008278839B2 (en) 2013-04-04
JP2025069363A (ja) 2025-04-30
CN106834481A (zh) 2017-06-13
CN103902809B (zh) 2017-11-28
CN107083425B (zh) 2025-08-05
JP2022103371A (ja) 2022-07-07
PL2557520T3 (pl) 2021-10-11
EA202192446A1 (ru) 2022-01-31
JP6151739B2 (ja) 2017-06-21
SG183062A1 (en) 2012-08-30
EP3067807A1 (en) 2016-09-14
EP3656870A1 (en) 2020-05-27
HUE030510T2 (hu) 2017-05-29
US9051616B2 (en) 2015-06-09
CA3176319A1 (en) 2009-01-29
US10208348B2 (en) 2019-02-19
HK1182195A1 (en) 2013-11-22
KR20100075826A (ko) 2010-07-05
EP3770275A1 (en) 2021-01-27
EP2557518A2 (en) 2013-02-13
HRP20140009T1 (hr) 2014-03-14
PT2183693E (pt) 2014-01-14
EP2183693B2 (en) 2018-11-14
SI2514842T1 (sl) 2016-06-30
EP2183692B1 (en) 2017-08-23
JP6383837B2 (ja) 2018-08-29
PL2183693T3 (pl) 2014-03-31
ES2441807T3 (es) 2014-02-06
KR20210130269A (ko) 2021-10-29
PT2557517T (pt) 2023-01-04
EP2557518B1 (en) 2017-03-15
KR101829564B1 (ko) 2018-02-14
HRP20210983T1 (hr) 2021-09-17
LT2557517T (lt) 2023-01-10
CA3200589A1 (en) 2009-01-29
CN106834474A (zh) 2017-06-13
EP2527471A2 (en) 2012-11-28
HK1224033A1 (en) 2017-08-11
EP2557517A2 (en) 2013-02-13
PL2557517T3 (pl) 2023-03-06
CA2694007C (en) 2019-02-26
FI2557517T3 (fi) 2022-11-30
EA201300072A1 (ru) 2014-11-28
EP2514842B1 (en) 2016-02-24
AU2008278839A1 (en) 2009-01-29
CN107083424A (zh) 2017-08-22
CN103853916B (zh) 2018-07-27
EA201600280A1 (ru) 2016-07-29
KR102112438B9 (ko) 2024-08-22
HRP20251164T3 (hr) 2025-12-19
CN103849684A (zh) 2014-06-11
IL233261A (en) 2016-07-31
CN101971178A (zh) 2011-02-09
KR20160113148A (ko) 2016-09-28
HK1144024A1 (en) 2011-01-21
KR20180114251A (ko) 2018-10-17
CN103902809A (zh) 2014-07-02
KR20180100713A (ko) 2018-09-11
EP2557517A3 (en) 2014-11-05
KR20230047215A (ko) 2023-04-06
JP2020031663A (ja) 2020-03-05
JP7457399B2 (ja) 2024-03-28
KR20200100860A (ko) 2020-08-26
ZA201000524B (en) 2011-03-30
KR102516709B1 (ko) 2023-04-03
US12054776B2 (en) 2024-08-06
MX346069B (es) 2017-03-06
BRPI0814670B1 (pt) 2019-10-01
ES2820866T3 (es) 2021-04-22
NZ600407A (en) 2013-12-20
ES2441807T5 (es) 2019-04-25
JP2019013245A (ja) 2019-01-31
EA028642B1 (ru) 2017-12-29
US20090029377A1 (en) 2009-01-29
HRP20140009T4 (hr) 2019-03-08
KR20160113145A (ko) 2016-09-28
WO2009013492A1 (en) 2009-01-29
JP2016185162A (ja) 2016-10-27
DK2183693T3 (da) 2014-01-20
JP2010534069A (ja) 2010-11-04
JP2020031664A (ja) 2020-03-05
DK2557520T3 (da) 2021-05-31
HUE054639T2 (hu) 2021-09-28
BRPI0814670B8 (pt) 2021-07-27
ES2869347T3 (es) 2021-10-25
US12227804B2 (en) 2025-02-18
CA3127930A1 (en) 2009-01-29
CY1124357T1 (el) 2022-07-22
KR20230117256A (ko) 2023-08-07
JP6629940B2 (ja) 2020-01-15
CA3076142A1 (en) 2009-01-29
JP2015142588A (ja) 2015-08-06
KR101829565B1 (ko) 2018-03-29
CN101971178B (zh) 2014-03-26
US20200056242A1 (en) 2020-02-20
KR20100058503A (ko) 2010-06-03
IL233261A0 (en) 2014-08-31
US20190136323A1 (en) 2019-05-09
JP2020115887A (ja) 2020-08-06

Similar Documents

Publication Publication Date Title
US20230323462A1 (en) Determining a nucleic acid sequence imbalance using multiple markers
AU2019283981B2 (en) Analyzing tumor dna in a cellfree sample
HK40084567A (en) Determining a nucleic acid sequence imbalance
AU2013202141B2 (en) Determining a nucleic acid sequence imbalance using epigenetic markers
HK40050107A (en) Determining a nucleic acid sequence imbalance
HK40033135A (en) Determining a nucleic acid sequence imbalance
HK1182195B (en) Determining a nucleic acid sequence imbalance
HK1182194B (en) Determining a genotype of a fetus
HK1182193B (en) Determining a nucleic acid sequence imbalance
HK1144025B (en) Determining a nucleic acid sequence imbalance
HK1144025A (en) Determining a nucleic acid sequence imbalance
HK1182194A (en) Determining a genotype of a fetus
HK1182778B (en) Determining a nucleic acid sequence imbalance
HK1182778A (en) Determining a nucleic acid sequence imbalance

Legal Events

Date Code Title Description
EEER Examination request

Effective date: 20200318

EEER Examination request

Effective date: 20200318