Nothing Special   »   [go: up one dir, main page]

DK2366031T3 - Fremgangsmåder til sekventering i prænatale diagnoser - Google Patents

Fremgangsmåder til sekventering i prænatale diagnoser Download PDF

Info

Publication number
DK2366031T3
DK2366031T3 DK10830938.6T DK10830938T DK2366031T3 DK 2366031 T3 DK2366031 T3 DK 2366031T3 DK 10830938 T DK10830938 T DK 10830938T DK 2366031 T3 DK2366031 T3 DK 2366031T3
Authority
DK
Denmark
Prior art keywords
chromosome
sequencing
sequence
fetal
sample
Prior art date
Application number
DK10830938.6T
Other languages
English (en)
Inventor
Gabrielle Heilek
Richard P Rava
Brian Kent Rhees
Manjula Chinnappa
David A Comstock
Original Assignee
Verinata Health 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
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=44307118&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=DK2366031(T3) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Verinata Health Inc filed Critical Verinata Health Inc
Application granted granted Critical
Publication of DK2366031T3 publication Critical patent/DK2366031T3/da

Links

Classifications

    • 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
    • G16B99/00—Subject matter not provided for in other groups of this subclass
    • 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
    • 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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6813—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
    • C12Q1/6872—Methods for sequencing involving mass spectrometry
    • C—CHEMISTRY; METALLURGY
    • C40—COMBINATORIAL TECHNOLOGY
    • C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B30/00—Methods of screening libraries
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/101—Reactions characterised by their quantitative nature the purpose being quantitative analysis with an internal standard/control
    • 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
    • C12Q2600/106—Pharmacogenomics, i.e. genetic variability in individual responses to drugs and drug metabolism
    • 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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Pathology (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Public Health (AREA)
  • General Chemical & Material Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Algebra (AREA)
  • General Physics & Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)

Claims (14)

1. Fremgangsmåde til fremstilling af et sekventeringsbibliotek fra en maternal prøve omfattende en blanding af føtale og materneile nukleinsyremolekyler, hvor fremgangsmåden omfatter på hinanden følgende trin af end-repairing, dA-addition og adaptor-ligering af disse nukleinsyrer, og hvor de på hinanden følgende trin udelukker oprensning af de end-repaired produkter før dA-additionstrinnet og udelukker oprensning af dA-additionsprodukterne før adaptor-ligeringstrinnet.
2. Fremgangsmåden ifølge krav 1, hvor de på hinanden følgende trin udføres i fraværet af polyethylenglycol.
3. Fremgangsmåden ifølge krav 1 eller krav 2, hvor de på hinanden følgende trin udføres i mindre end 1 time.
4. Anvendelse af sekventeringsbiblioteket fremstillet ved fremgangsmåden ifølge et hvilket som helst af kravene 1-3 i en massiv parallel fremgangsmåde til sekventering.
5. Anvendelsen ifølge krav 4, hvor fremgangsmåden til sekventering er en fremgangsmåde til bestemmelse af føtal kromosomal aneuploidi i den materneile prøve.
6. Anvendelsen ifølge krav 5, hvilken fremgangsmåde omfatter: (a) sekventering af mindst en del af nukleinsyremolekylerne i sekventeringsbiblioteket, hvorved opnås sekvensinformation for en mængdeaf føtale og materneile nukleinsyremolekyler fra en maternal prøve, hvor sekvensinformationen omfatter sekvenslæsninger; og (b) at anvende sekvensinformationen til at identificerede et antal kortlagte sekvensmærker for mindst ét normaliserende kromosom og for et aneuploidt kromosom, ved sammenligning af sekvenserne på sekvenslæsningerne med sekvensen fra et humant referencegenom for at bestemme den kromosomale oprindelse af de sekventerede nukleinsyremolekyler; (c) at beregne en kromosomdosis for det aneuploide kromosom som: (i) et forhold mellem antallet af kortlagte sekvensmærker identificeret for det aneuploide kromosom og antallet af kortlagte sekvensmærker identificeret for det mindst ene normaliserende kromosom; eller (ii) et forhold mellem et sekvensmærke-densitetsforhold for det aneuploide kromosom og et sekvensmærke-densitetsforhold for det mindst ene normaliserende kromosom, hvor sekvensmærke-densitetsforholdet for det aneuploide kromosom er beregnet ved at relatere antallet af kortlagte sekvensmærker identificeret for det aneuploide kromosom i trin (b) til længden af det aneuploide kromosom, og sekvensmærke-densitetsforholdet for det mindst ene normaliserende kromosom er beregnet ved at relatere antallet af kortlagte sekvensmærker identificeret for det mindst ene normaliserende kromosom i trin (b) med længden af det mindst ene normaliserende kromosom; og (d) at sammenligne denne dosis med en tærskelværdi, hvor tærskelværdien er et antal der tjener som en grænsediagnose for en aneuploidi, og derved bestemme tilstedeværelsen eller fraværet af føtal aneuploidi, hvor tilstedeværelsen af føtal aneuplodi er identificeret hvis den kromosomale dosis overstiger tærskelværdien, hvor: (i) det mindst ene normaliserende kromosom er et kromosom eller en gruppe af kromosomer der i et kvalificeret datasæt af prøver omfatter kromosomer der er til stede i et kendt kopiantal og ikke aneuploid for kromosomet af interesse viste en variabilitet i antallet af sekvensmærker kortlagt for det der bedst tilnærmet variabiliteten i antallet af sekvensmærker kortlagt til kromosomet af interesse; og/eller (ii) det mindst ene normaliserende kromosom er et kromosom eller en gruppe af kromosomer der tilvejebragte den største statistiske forskel mellem fordelingen af kromosomdoser for kromosomerne af interesse i et kvalificeret datasæt af prøver der omfatter kromosomer som er til stede i et kendt kopiantal og ikke aneuploid for kromosomerne af interesse og kromosomdosen for kromosomerne af interesse i én eller flere påvirkede prøver.
7. Anvendelsen ifølge krav 5 eller krav 6, hvor aneuploidien er en kromosomal aneuploidi.
8. Anvendelsen ifølge krav 5 eller krav 6, hvor aneuploidien er en delvis aneuploidi.
9. Anvendelsen ifølge krav 5 eller krav 6, hvor aneuploidien er en kromosomal aneuploidi valgt fra trisomi 8, trisomi 13, trisomi 15, trisomi 16, trisomi 18, trisomi 21, trisomi 22, monosomi X, XXX, XXY og XYY.
10. Anvendelsen ifølge krav 4, hvor fremgangsmåden til sekventering er en fremgangsmåde til at bestemme fraktionen af føtale nukleinsyrer i den materneile prøve.
11. Fremgangsmåden eller anvendelsen ifølge et hvilket som helst af de foregående krav, hvor den materneile prøve er en biologisk væske valgt fra blod, plasma, serum, urin og spyt.
12. Fremgangsmåden eller anvendelsen ifølge krav 11, hvor den materneile prøve er en plasmaprøve.
13. Fremgangsmåden eller anvendelsen ifølge et hvilket som helst af de foregående krav, hvor de føtale og materneile nukleinsyremolekyler er celle-fri DNA (cfDNA)-molekyler.
14. Anvendelsen ifølge krav 4, hvor sekventeringen: (i) er næste generations-sekventering (NGS); (ii) er massiv parallel sekventering under anvendelse af sekventering-ved-syntese med reversible farve-terminatorer; (iii) er massiv parallel sekventering under anvendelse af sekventering-ved-ligering; (iv) omfatter en amplifikation; eller (v) er enkelt-molekyle sekventering.
DK10830938.6T 2010-01-19 2010-12-01 Fremgangsmåder til sekventering i prænatale diagnoser DK2366031T3 (da)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US29635810P 2010-01-19 2010-01-19
US36083710P 2010-07-01 2010-07-01
US40701710P 2010-10-26 2010-10-26
US45584910P 2010-10-26 2010-10-26
PCT/US2010/058614 WO2011090559A1 (en) 2010-01-19 2010-12-01 Sequencing methods and compositions for prenatal diagnoses

Publications (1)

Publication Number Publication Date
DK2366031T3 true DK2366031T3 (da) 2015-02-23

Family

ID=44307118

Family Applications (6)

Application Number Title Priority Date Filing Date
DK10830938.6T DK2366031T3 (da) 2010-01-19 2010-12-01 Fremgangsmåder til sekventering i prænatale diagnoser
DK10830939.4T DK2376661T3 (da) 2010-01-19 2010-12-01 Simultan bestemmelse af aneuploidi og føtal fraktion
DK18160303.6T DK3382037T3 (da) 2010-01-19 2010-12-01 Fremgangsmåder til bestemmelse af fraktionen af føtale nukleinsyrer i maternelle prøver
DK10844163.5T DK2513339T3 (da) 2010-01-19 2010-12-01 Fremgangsmåde til bestemmelse af fraktion af føtal nukleinsyre i maternel-prøver
DK17180803.3T DK3260555T3 (da) 2010-01-19 2010-12-01 Hidtil ukendt protokol til fremstilling af sekventeringsbiblioteker
DK18201917.4T DK3492601T3 (da) 2010-01-19 2010-12-01 Hidtil ukendt protokol til fremstilling af sekvenseringsbiblioteker

Family Applications After (5)

Application Number Title Priority Date Filing Date
DK10830939.4T DK2376661T3 (da) 2010-01-19 2010-12-01 Simultan bestemmelse af aneuploidi og føtal fraktion
DK18160303.6T DK3382037T3 (da) 2010-01-19 2010-12-01 Fremgangsmåder til bestemmelse af fraktionen af føtale nukleinsyrer i maternelle prøver
DK10844163.5T DK2513339T3 (da) 2010-01-19 2010-12-01 Fremgangsmåde til bestemmelse af fraktion af føtal nukleinsyre i maternel-prøver
DK17180803.3T DK3260555T3 (da) 2010-01-19 2010-12-01 Hidtil ukendt protokol til fremstilling af sekventeringsbiblioteker
DK18201917.4T DK3492601T3 (da) 2010-01-19 2010-12-01 Hidtil ukendt protokol til fremstilling af sekvenseringsbiblioteker

Country Status (12)

Country Link
US (12) US20110224087A1 (da)
EP (14) EP4450645A3 (da)
AU (4) AU2010343276B2 (da)
CA (4) CA2786357C (da)
CY (1) CY1124494T1 (da)
DK (6) DK2366031T3 (da)
ES (6) ES2560929T3 (da)
GB (5) GB2479080B (da)
HK (6) HK1160185A1 (da)
PL (4) PL2366031T3 (da)
TR (1) TR201807917T4 (da)
WO (3) WO2011090557A1 (da)

Families Citing this family (241)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2313143T3 (es) 2005-04-06 2009-03-01 Maurice Stroun Metodo para el diagnostico de cancer mediante la deteccion de adn y arn circulantes.
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 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
US11111544B2 (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
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
CA2647793C (en) * 2006-02-28 2016-07-05 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20110033862A1 (en) * 2008-02-19 2011-02-10 Gene Security Network, Inc. Methods for cell genotyping
AU2009223671B2 (en) * 2008-03-11 2014-11-27 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20110092763A1 (en) * 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
AU2009279734A1 (en) 2008-08-04 2010-02-11 Natera, Inc. Methods for allele calling and ploidy calling
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
EP2473638B1 (en) 2009-09-30 2017-08-09 Natera, Inc. Methods for non-invasive prenatal ploidy calling
CN107312844B (zh) 2009-11-06 2021-01-22 香港中文大学 基于大小的基因组分析
US9315857B2 (en) 2009-12-15 2016-04-19 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse label-tags
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
EP3088532B1 (en) 2009-12-22 2019-10-30 Sequenom, Inc. Processes and kits for identifying aneuploidy
DK2366031T3 (da) * 2010-01-19 2015-02-23 Verinata Health Inc Fremgangsmåder til sekventering i prænatale diagnoser
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
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
WO2011091063A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
US9090674B2 (en) * 2010-05-17 2015-07-28 The Board Of Regents Of The University Of Texas System Rapid isolation of monoclonal antibodies from animals
US12221653B2 (en) 2010-05-18 2025-02-11 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
US12152275B2 (en) 2010-05-18 2024-11-26 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
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
WO2013052557A2 (en) * 2011-10-03 2013-04-11 Natera, Inc. Methods for preimplantation genetic diagnosis by sequencing
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
CA2798758C (en) 2010-05-18 2019-05-07 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11339429B2 (en) 2010-05-18 2022-05-24 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
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
ES2523140T3 (es) 2010-09-21 2014-11-21 Population Genetics Technologies Ltd. Aumento de la confianza en las identificaciones de alelos con el recuento molecular
MY169852A (en) * 2010-11-30 2019-05-17 Univ Hong Kong Chinese Detection of genetic or molecular aberrations associated with cancer
JP6328934B2 (ja) 2010-12-22 2018-05-23 ナテラ， インコーポレイテッド 非侵襲性出生前親子鑑定法
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
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
EP2673729B1 (en) 2011-02-09 2018-10-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9260753B2 (en) 2011-03-24 2016-02-16 President And Fellows Of Harvard College Single cell nucleic acid detection and analysis
AU2012236200B2 (en) 2011-03-30 2015-05-14 Verinata Health, Inc. Method for verifying bioassay samples
PL3567124T3 (pl) 2011-04-12 2022-04-19 Verinata Health, Inc. Rozdzielanie frakcji genomu z wykorzystaniem liczby polimorfizmu
WO2012141712A1 (en) * 2011-04-14 2012-10-18 Verinata Health, Inc. Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
WO2014014498A1 (en) 2012-07-20 2014-01-23 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
US9411937B2 (en) * 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US20130059738A1 (en) * 2011-04-28 2013-03-07 Life Technologies Corporation Methods and compositions for multiplex pcr
CN106912197B (zh) 2011-04-28 2022-01-25 生命技术公司 用于多重pcr的方法和组合物
US20130059762A1 (en) 2011-04-28 2013-03-07 Life Technologies Corporation Methods and compositions for multiplex pcr
AU2012249531B2 (en) 2011-04-29 2017-06-29 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
EP2563937A1 (en) * 2011-07-26 2013-03-06 Verinata Health, Inc Method for determining the presence or absence of different aneuploidies in a sample
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
CA2848304A1 (en) * 2011-09-09 2013-03-14 The Board Of Trustees Of The Leland Stanford Junior University Methods for sequencing a polynucleotide
US20130110407A1 (en) * 2011-09-16 2013-05-02 Complete Genomics, Inc. Determining variants in genome of a heterogeneous sample
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
US20140242588A1 (en) 2011-10-06 2014-08-28 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
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2851537C (en) 2011-10-11 2020-12-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9845552B2 (en) 2011-10-27 2017-12-19 Verinata Health, Inc. Set membership testers for aligning nucleic acid samples
JP6431769B2 (ja) 2012-01-20 2018-11-28 セクエノム， インコーポレイテッド 実験条件を要因として含める診断プロセス
ES2904816T3 (es) 2012-02-27 2022-04-06 Becton Dickinson Co Composiciones para recuento molecular
WO2013130512A2 (en) 2012-02-27 2013-09-06 The University Of North Carolina At Chapel Hill Methods and uses for molecular tags
WO2013128281A1 (en) 2012-02-28 2013-09-06 Population Genetics Technologies Ltd Method for attaching a counter sequence to a nucleic acid sample
EP3401399B1 (en) 2012-03-02 2020-04-22 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
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
DK2852680T3 (da) 2012-05-21 2020-03-16 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv evaluering af genetiske variationer
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
CN104053787A (zh) * 2012-05-23 2014-09-17 深圳华大基因医学有限公司 鉴定双胞胎类型的方法和系统
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
AU2013290102B2 (en) 2012-07-13 2018-11-15 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
EP2875156A4 (en) 2012-07-19 2016-02-24 Ariosa Diagnostics Inc DETECTION BASED ON MULTIPLEX SEQUENTIAL LIGATION OF GENETIC VARIANTS
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US11913065B2 (en) 2012-09-04 2024-02-27 Guardent Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10876152B2 (en) 2012-09-04 2020-12-29 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
WO2014039556A1 (en) 2012-09-04 2014-03-13 Guardant Health, Inc. Systems and methods to detect rare mutations and copy number variation
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2887094C (en) 2012-10-04 2021-09-07 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014066635A1 (en) * 2012-10-24 2014-05-01 Complete Genomics, Inc. Genome explorer system to process and present nucleotide variations in genome sequence data
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
KR102082025B1 (ko) 2013-02-28 2020-02-26 더 차이니즈 유니버시티 오브 홍콩 대량 동시 rna 서열분석에 의한 모체 혈장 전사물 분석
EP2971100A1 (en) 2013-03-13 2016-01-20 Sequenom, Inc. Primers for dna methylation analysis
WO2014151511A2 (en) 2013-03-15 2014-09-25 Abbott Molecular Inc. Systems and methods for detection of genomic copy number changes
US20140278127A1 (en) * 2013-03-15 2014-09-18 Battelle Memorial Institute Computer Files and Methods Supporting Forensic Analysis of Nucleotide Sequence Data
EP2971097B1 (en) * 2013-03-15 2018-08-01 Verinata Health, Inc Generating cell-free dna libraries directly from blood
PL2981921T3 (pl) 2013-04-03 2023-05-08 Sequenom, Inc. Metody i procesy nieinwazyjnej oceny zmienności genetycznych
CN105555968B (zh) 2013-05-24 2020-10-23 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
JP6521956B2 (ja) 2013-06-17 2019-05-29 ベリナタ ヘルス インコーポレイテッド 性染色体におけるコピー数変異を判定するための方法
PL3011051T3 (pl) 2013-06-21 2019-07-31 Sequenom, Inc. Sposób nieinwazyjnej oceny zmienności genetycznych
ES2857908T3 (es) 2013-08-28 2021-09-29 Becton Dickinson Co Análisis masivamente paralelo de células individuales
GB201318369D0 (en) * 2013-10-17 2013-12-04 Univ Leuven Kath Methods using BAF
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
EP3053071B1 (en) 2013-10-04 2023-10-18 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3055676A1 (en) 2013-10-07 2016-08-17 Cellular Research, Inc. Methods and systems for digitally counting features on arrays
EP3055427B1 (en) 2013-10-07 2018-09-12 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
EP3087204B1 (en) 2013-12-28 2018-02-14 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
CA2945962C (en) 2014-04-21 2023-08-29 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP3760739A1 (en) 2014-07-30 2021-01-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
AU2015330734B2 (en) 2014-10-10 2021-10-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
US9618474B2 (en) 2014-12-18 2017-04-11 Edico Genome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
EP3235010A4 (en) 2014-12-18 2018-08-29 Agilome, Inc. Chemically-sensitive field effect transistor
SG11201706529TA (en) 2015-02-10 2017-09-28 Univ Hong Kong Chinese Detecting mutations for cancer screening and fetal analysis
ES2824700T3 (es) 2015-02-19 2021-05-13 Becton Dickinson Co Análisis unicelular de alto rendimiento que combina información proteómica y genómica
KR101533792B1 (ko) * 2015-02-24 2015-07-06 대한민국 Ngs 기반 인간 객체의 상염색체 분석방법
WO2016138496A1 (en) 2015-02-27 2016-09-01 Cellular Research, Inc. Spatially addressable molecular barcoding
US11535882B2 (en) 2015-03-30 2022-12-27 Becton, Dickinson And Company Methods and compositions for combinatorial barcoding
EP3286326B1 (en) 2015-04-23 2025-01-22 Becton, Dickinson and Company Method for whole transcriptome amplification
US10844428B2 (en) * 2015-04-28 2020-11-24 Illumina, Inc. Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS)
EP3294906B1 (en) 2015-05-11 2024-07-10 Natera, Inc. Methods for determining ploidy
CA2986200A1 (en) 2015-05-22 2016-12-01 Nipd Genetics Public Company Limited Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
US11124823B2 (en) 2015-06-01 2021-09-21 Becton, Dickinson And Company Methods for RNA quantification
EP3135770A1 (en) * 2015-08-28 2017-03-01 Latvian Biomedical Research and Study Centre Set of oligonucleotides and method for detection of fetal dna fraction in maternal plasma
US11302416B2 (en) 2015-09-02 2022-04-12 Guardant Health Machine learning for somatic single nucleotide variant detection in cell-free tumor nucleic acid sequencing applications
US10619186B2 (en) 2015-09-11 2020-04-14 Cellular Research, Inc. Methods and compositions for library normalization
US20180327844A1 (en) * 2015-11-16 2018-11-15 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3390668A4 (en) 2015-12-17 2020-04-01 Guardant Health, Inc. METHODS OF DETERMINING THE NUMBER OF TUMOR GENE COPIES BY ACELLULAR DNA ANALYSIS
US10982286B2 (en) 2016-01-22 2021-04-20 Mayo Foundation For Medical Education And Research Algorithmic approach for determining the plasma genome abnormality PGA and the urine genome abnormality UGA scores based on cell free cfDNA copy number variations in plasma and urine
JP7064665B2 (ja) 2016-03-07 2022-05-11 ファーザー フラナガンズ ボーイズ ホーム ドゥーイング ビジネス アズ ボーイズ タウン ナショナル リサーチ ホスピタル 非侵襲的分子対照
CA3016360A1 (en) 2016-04-15 2017-10-19 Ucl Business Plc Methods for lung cancer detection
EP4269616A3 (en) 2016-05-02 2024-02-14 Becton, Dickinson and Company Accurate molecular barcoding
US10811539B2 (en) 2016-05-16 2020-10-20 Nanomedical Diagnostics, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10301677B2 (en) 2016-05-25 2019-05-28 Cellular Research, Inc. Normalization of nucleic acid libraries
WO2017205691A1 (en) 2016-05-26 2017-11-30 Cellular Research, Inc. Molecular label counting adjustment methods
EP3464626B1 (en) 2016-05-27 2022-04-06 Sequenom, Inc. Methods for detecting genetic variations
US10202641B2 (en) 2016-05-31 2019-02-12 Cellular Research, Inc. Error correction in amplification of samples
US10640763B2 (en) 2016-05-31 2020-05-05 Cellular Research, Inc. Molecular indexing of internal sequences
EP3491561A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
AU2017328953B2 (en) * 2016-09-15 2023-09-14 Archerdx, Llc Methods of nucleic acid sample preparation for analysis of cell-free DNA
CA3037185A1 (en) 2016-09-15 2018-03-22 ArcherDX, Inc. Methods of nucleic acid sample preparation
KR102363716B1 (ko) 2016-09-26 2022-02-18 셀룰러 리서치, 인크. 바코딩된 올리고뉴클레오티드 서열을 갖는 시약을 이용한 단백질 발현의 측정
WO2018064486A1 (en) * 2016-09-29 2018-04-05 Counsyl, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
CN109642250B (zh) 2016-09-30 2024-06-04 夸登特健康公司 用于无细胞核酸的多分辨率分析的方法
US9850523B1 (en) 2016-09-30 2017-12-26 Guardant Health, Inc. Methods for multi-resolution analysis of cell-free nucleic acids
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
WO2018085599A2 (en) * 2016-11-02 2018-05-11 ArcherDX, Inc. Methods of nucleic acid sample preparation for immune repertoire sequencing
SG11201903158RA (en) 2016-11-08 2019-05-30 Cellular Res Inc Methods for cell label classification
WO2018089378A1 (en) 2016-11-08 2018-05-17 Cellular Research, Inc. Methods for expression profile classification
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
EP3568234B1 (en) 2017-01-13 2023-09-06 Cellular Research, Inc. Hydrophilic coating of fluidic channels
JP7051900B2 (ja) 2017-01-18 2022-04-11 イルミナ インコーポレイテッド 不均一分子長を有するユニーク分子インデックスセットの生成およびエラー補正のための方法およびシステム
EP3571614A1 (en) 2017-01-20 2019-11-27 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
CA3049682C (en) 2017-01-20 2023-06-27 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
CA3049455C (en) 2017-01-20 2023-06-13 Sequenom, Inc. Sequencing adapter manufacture and use
EP3574424A1 (en) 2017-01-24 2019-12-04 Sequenom, Inc. Methods and processes for assessment of genetic variations
MY197535A (en) 2017-01-25 2023-06-21 Univ Hong Kong Chinese Diagnostic applications using nucleic acid fragments
EP3577232A1 (en) 2017-02-01 2019-12-11 Cellular Research, Inc. Selective amplification using blocking oligonucleotides
WO2018156418A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
PT3596233T (pt) 2017-03-17 2022-08-22 Sequenom Inc Métodos e processos para avaliação de mosaicismo genético
JP7170711B2 (ja) * 2017-04-18 2022-11-14 アジレント・テクノロジーズ・ベルジャム・ナムローゼ・フェンノートシャップ Ｄｎａ分析のためのオフターゲット配列の使用
CA3059559A1 (en) 2017-06-05 2018-12-13 Becton, Dickinson And Company Sample indexing for single cells
EP3649258B1 (en) 2017-07-07 2022-05-04 Nipd Genetics Public Company Limited Target-enriched multiplexed parallel analysis for assessment of fetal dna samples
ES2924548T3 (es) 2017-07-07 2022-10-07 Nipd Genetics Public Company Ltd Análisis paralelo multiplexado con enriquecimiento de blancos para la evaluación tumoral
ES2925394T3 (es) 2017-07-07 2022-10-17 Nipd Genetics Public Company Ltd Análisis paralelo multiplexado con enriquecimiento de blancos para la evaluación del riesgo de portar alteraciones genéticas
PL3649257T3 (pl) 2017-07-07 2022-07-18 Nipd Genetics Public Company Limited Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej
LT3658689T (lt) 2017-07-26 2021-06-25 Trisomytest, S.R.O. Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu
AU2018312117B2 (en) 2017-08-04 2022-05-12 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
EP3662479A1 (en) 2017-08-04 2020-06-10 Trisomytest, s.r.o. A method for non-invasive prenatal detection of fetal sex chromosomal abnormalities and fetal sex determination for singleton and twin pregnancies
US11646100B2 (en) 2017-08-04 2023-05-09 Billiontoone, Inc. Target-associated molecules for characterization associated with biological targets
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
US11447818B2 (en) 2017-09-15 2022-09-20 Illumina, Inc. Universal short adapters with variable length non-random unique molecular identifiers
CN108733982B (zh) * 2017-09-26 2021-02-19 上海凡迪基因科技有限公司 孕妇nipt结果校正方法、装置及计算机可读存储介质、设备
WO2019084489A1 (en) 2017-10-27 2019-05-02 Juno Diagnostics, Inc. DEVICES, SYSTEMS AND METHODS FOR ULTRA-LOW VOLUMES LIQUID BIOPSY
JP2021506342A (ja) 2017-12-14 2021-02-22 ティーエーアイ ダイアグノスティックス インコーポレイテッドＴａｉ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． 移植のための移植片適合性の評価
CN111492068A (zh) 2017-12-19 2020-08-04 贝克顿迪金森公司 与寡核苷酸相关联的颗粒
KR102031841B1 (ko) * 2017-12-22 2019-10-15 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
DK3735470T3 (da) 2018-01-05 2024-02-26 Billiontoone Inc Kvalitetskontroltemplates til sikring af validiteten af sekventeringsbaserede analyser
WO2019195225A1 (en) 2018-04-02 2019-10-10 Illumina, Inc. Compositions and methods for making controls for sequence-based genetic testing
JP7573443B2 (ja) 2018-04-14 2024-10-25 ナテラ， インコーポレイテッド 循環腫瘍ｄｎａの個別化された検出を用いる癌検出およびモニタリングの方法
WO2019213237A1 (en) 2018-05-03 2019-11-07 Becton, Dickinson And Company Molecular barcoding on opposite transcript ends
AU2019262048A1 (en) 2018-05-03 2020-11-12 Becton, Dickinson And Company High throughput multiomics sample analysis
KR102447811B1 (ko) 2018-05-17 2022-09-27 일루미나, 인코포레이티드 감소된 증폭 편향을 갖는 고속대량 단일 세포 서열분석
EP3833776A4 (en) 2018-08-06 2022-04-27 Billiontoone, Inc. DILUTION MARKER FOR QUANTIFICATION OF BIOLOGICAL TARGETS
JP2022511398A (ja) 2018-10-01 2022-01-31 ベクトン・ディキンソン・アンド・カンパニー ５’転写物配列の決定
WO2020097315A1 (en) 2018-11-08 2020-05-14 Cellular Research, Inc. Whole transcriptome analysis of single cells using random priming
WO2020113577A1 (zh) * 2018-12-07 2020-06-11 深圳华大生命科学研究院 一种靶基因文库的构建方法、检测装置及其应用
CN113195717A (zh) 2018-12-13 2021-07-30 贝克顿迪金森公司 单细胞全转录组分析中的选择性延伸
WO2020150356A1 (en) 2019-01-16 2020-07-23 Becton, Dickinson And Company Polymerase chain reaction normalization through primer titration
EP4242322B1 (en) 2019-01-23 2024-08-21 Becton, Dickinson and Company Oligonucleotides associated with antibodies
AU2020216438A1 (en) 2019-01-31 2021-07-29 Guardant Health, Inc. Compositions and methods for isolating cell-free DNA
CN113454234A (zh) 2019-02-14 2021-09-28 贝克顿迪金森公司 杂合体靶向和全转录物组扩增
US11965208B2 (en) 2019-04-19 2024-04-23 Becton, Dickinson And Company Methods of associating phenotypical data and single cell sequencing data
WO2020226528A1 (ru) * 2019-05-08 2020-11-12 Общество с ограниченной ответственностью "ГЕНОТЕК ИТ" Способ определения кариотипа плода беременной женщины
US11939622B2 (en) 2019-07-22 2024-03-26 Becton, Dickinson And Company Single cell chromatin immunoprecipitation sequencing assay
CN114269948B (zh) * 2019-08-30 2025-01-28 香港中文大学 通过低深度基因组测序检测杂合性缺失的方法
WO2021087491A1 (en) 2019-10-31 2021-05-06 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
CN114729350A (zh) 2019-11-08 2022-07-08 贝克顿迪金森公司 使用随机引发获得用于免疫组库测序的全长v(d)j信息
CA3131748A1 (en) 2019-11-22 2021-05-27 Sarah E. SHULTZABERGER Circulating rna signatures specific to preeclampsia
WO2021146207A1 (en) 2020-01-13 2021-07-22 Becton, Dickinson And Company Methods and compositions for quantitation of proteins and rna
CN115335520A (zh) 2020-01-29 2022-11-11 贝克顿迪金森公司 用于通过测序对单细胞进行空间映射的条形码化的孔
EP4111168A1 (en) 2020-02-25 2023-01-04 Becton Dickinson and Company Bi-specific probes to enable the use of single-cell samples as single color compensation control
CN115605614A (zh) 2020-05-14 2023-01-13 贝克顿迪金森公司（Us） 用于免疫组库谱分析的引物
CN111534604B (zh) * 2020-05-27 2024-01-23 广东华美众源生物科技有限公司 一种检测人常染色体dip-str遗传标记的荧光复合扩增试剂盒
CN115803445A (zh) 2020-06-02 2023-03-14 贝克顿迪金森公司 用于5撇基因表达测定的寡核苷酸和珠
US11932901B2 (en) 2020-07-13 2024-03-19 Becton, Dickinson And Company Target enrichment using nucleic acid probes for scRNAseq
US11377654B2 (en) 2020-09-11 2022-07-05 New England Biolabs, Inc. Application of immobilized enzymes for nanopore library construction
CN116635533A (zh) 2020-11-20 2023-08-22 贝克顿迪金森公司 高表达的蛋白和低表达的蛋白的谱分析
AU2021391422A1 (en) 2020-12-02 2022-11-03 Illumina Software, Inc. System and method for detection of genetic alterations
AU2023240345A1 (en) 2022-03-21 2024-10-10 Billion Toone, Inc. Molecule counting of methylated cell-free dna for treatment monitoring
WO2024186778A1 (en) 2023-03-03 2024-09-12 Laboratory Corporation Of America Holdings Methods and systems for positive cfdna screening on genetic variations using mosaicism ratio
WO2024238593A1 (en) 2023-05-15 2024-11-21 Laboratory Corporation Of America Holdings Machine-learning approaches to pan-cancer screening in whole genome sequencing
CN117965744B (zh) * 2023-12-12 2024-10-11 东莞博奥木华基因科技有限公司 一种基于多重pcr捕获技术检测胎儿样本倍性和母源细胞污染的试剂盒、引物和方法

Family Cites Families (105)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6270961B1 (en) 1987-04-01 2001-08-07 Hyseq, Inc. Methods and apparatus for DNA sequencing and DNA identification
US5965362A (en) * 1992-03-04 1999-10-12 The Regents Of The University Of California Comparative genomic hybridization (CGH)
WO1994003638A1 (en) 1992-07-30 1994-02-17 Applied Biosystems, Inc. Method of detecting aneuploidy by amplified short tandem repeats
US5776737A (en) 1994-12-22 1998-07-07 Visible Genetics Inc. Method and composition for internal identification of samples
US6057103A (en) 1995-07-18 2000-05-02 Diversa Corporation Screening for novel bioactivities
AU735272B2 (en) 1996-10-04 2001-07-05 Intronn Llc Sample collection devices and methods using markers and the use of such markers as controls in sample validation, laboratory evaluation and/or accreditation
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
EP1591541B1 (en) 1997-04-01 2012-02-15 Illumina Cambridge Limited Method of nucleic acid sequencing
US5888740A (en) 1997-09-19 1999-03-30 Genaco Biomedical Products, Inc. Detection of aneuploidy and gene deletion by PCR-based gene- dose co-amplification of chromosome specific sequences with synthetic sequences with synthetic internal controls
AR021833A1 (es) 1998-09-30 2002-08-07 Applied Research Systems Metodos de amplificacion y secuenciacion de acido nucleico
US6440706B1 (en) * 1999-08-02 2002-08-27 Johns Hopkins University Digital amplification
EP1290225A4 (en) 2000-05-20 2004-09-15 Univ Michigan METHOD FOR PRODUCING A DNA BANK BY POSITIONAL REPRODUCTION
AU2001273057A1 (en) 2000-06-27 2002-01-08 Fluidigm Corporation A microfluidic design automation method and system
CA2413158A1 (en) 2000-06-30 2002-01-10 Incyte Genomics, Inc. Ecm-related tumor marker
US20020142324A1 (en) * 2000-09-22 2002-10-03 Xun Wang Fungal target genes and methods to identify those genes
WO2002060582A2 (en) 2000-11-16 2002-08-08 Fluidigm Corporation Microfluidic devices for introducing and dispensing fluids from microfluidic systems
US6691042B2 (en) 2001-07-02 2004-02-10 Rosetta Inpharmatics Llc Methods for generating differential profiles by combining data obtained in separate measurements
US7226732B2 (en) 2001-07-16 2007-06-05 Cepheid Methods, apparatus, and computer programs for verifying the integrity of a probe
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
US7893248B2 (en) 2002-02-20 2011-02-22 Sirna Therapeutics, Inc. RNA interference mediated inhibition of Myc and/or Myb gene expression using short interfering nucleic acid (siNA)
KR20040102024A (ko) 2002-03-01 2004-12-03 라브겐, 인코퍼레이티드 유전적 장애의 검출 방법
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US20030194704A1 (en) * 2002-04-03 2003-10-16 Penn Sharron Gaynor Human genome-derived single exon nucleic acid probes useful for gene expression analysis two
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
AU2003277153A1 (en) 2002-09-27 2004-04-19 The General Hospital Corporation Microfluidic device for cell separation and uses thereof
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
ES2329364T3 (es) 2003-01-17 2009-11-25 The Trustees Of Boston University Analisis de haplotipos.
EP1583846B1 (en) 2003-01-17 2011-11-16 The Chinese University Of Hong Kong Circulating mrna as diagnostic markers for pregnancy-related disorders
JP4480715B2 (ja) 2003-01-29 2010-06-16 ４５４ コーポレーション 二重末端シーケンシング
EP1599608A4 (en) * 2003-03-05 2007-07-18 Genetic Technologies Ltd Identification of fetal DNA and fetal cell marker 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
EP1649040A4 (en) 2003-07-10 2007-07-18 Third Wave Tech Inc ANALYSIS FOR DIRECT MEASUREMENT OF A GENE ASSAY
WO2005023091A2 (en) 2003-09-05 2005-03-17 The Trustees Of Boston University Method for non-invasive prenatal diagnosis
WO2005039389A2 (en) 2003-10-22 2005-05-06 454 Corporation Sequence-based karyotyping
US7252946B2 (en) 2004-01-27 2007-08-07 Zoragen, Inc. Nucleic acid detection
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
EP1765503A2 (en) 2004-03-03 2007-03-28 The General Hospital Corporation System for delivering a diluted solution
US20090117542A1 (en) 2004-05-17 2009-05-07 The Ohio State University Research Foundation Unique short tandem repeats and methods of their use
DE102004036285A1 (de) 2004-07-27 2006-02-16 Advalytix Ag Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe
TW200624106A (en) 2004-09-07 2006-07-16 Uni Charm Corp Warming article
JP2007327743A (ja) 2004-09-07 2007-12-20 Univ Of Tokyo 遺伝子コピーの解析方法及び装置
US20060178835A1 (en) 2005-02-10 2006-08-10 Applera Corporation Normalization methods for genotyping analysis
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
WO2006131928A2 (en) 2005-06-08 2006-12-14 Compugen Ltd. Novel nucleotide and amino acid sequences, and assays and methods of use thereof for diagnosis
US20060286558A1 (en) * 2005-06-15 2006-12-21 Natalia Novoradovskaya Normalization of samples for amplification reactions
DE102005057988A1 (de) 2005-08-04 2007-02-08 Bosch Rexroth Ag Axialkolbenmaschine
ES2739484T3 (es) 2006-02-02 2020-01-31 Univ Leland Stanford Junior Prueba genética fetal no invasiva mediante análisis digital
US20100184043A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
CA2647793C (en) * 2006-02-28 2016-07-05 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
WO2007146105A2 (en) * 2006-06-05 2007-12-21 Cryo-Cell International, Inc. Procurement, isolation and cryopreservation of fetal placental cells
EP3425058A1 (en) 2006-06-14 2019-01-09 Verinata Health, Inc Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
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
EP2589668A1 (en) * 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
US20080050739A1 (en) * 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
EP2061801A4 (en) 2006-06-14 2009-11-11 Living Microsystems Inc DIAGNOSIS OF FETAL ANOMALIES BY COMPARATIVE GENOMIC HYBRIDIZATION ANALYSIS
EP3424598B1 (en) 2006-06-14 2022-06-08 Verinata Health, Inc. Rare cell analysis using sample splitting and dna tags
US20080113358A1 (en) 2006-07-28 2008-05-15 Ravi Kapur Selection of cells using biomarkers
WO2008015396A2 (en) 2006-07-31 2008-02-07 Solexa Limited Method of library preparation avoiding the formation of adaptor dimers
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
EP2118298B1 (en) 2007-02-08 2013-01-09 Sequenom, Inc. Nucleic acid-based tests for rhd typing
SI2183693T2 (sl) 2007-07-23 2019-02-28 The Chinese University Of Hong Kong Technology Licenising Office Diagnosticiranje fetalne kromosomske anevploidije z uporabo genomskega sekvenciranja
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA2701726A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
SG190670A1 (en) * 2008-02-01 2013-06-28 Gen Hospital Corp Use of microvesicles in diagnosis, prognosis and treatment of medical diseases and conditions
AU2009223671B2 (en) * 2008-03-11 2014-11-27 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20090299645A1 (en) 2008-03-19 2009-12-03 Brandon Colby Genetic analysis
WO2009120808A2 (en) * 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
US20090270601A1 (en) * 2008-04-21 2009-10-29 Steven Albert Benner Differential detection of single nucleotide polymorphisms
EP2853601B1 (en) 2008-07-18 2016-09-21 TrovaGene, Inc. Methods for PCR-based detection of "ultra short" nucleic acid sequences
LT2562268T (lt) * 2008-09-20 2017-04-25 The Board Of Trustees Of The Leland Stanford Junior University Neinvazinis fetalinės aneuploidijos diagnozavimas sekvenavimu
US20100285537A1 (en) 2009-04-02 2010-11-11 Fluidigm Corporation Selective tagging of short nucleic acid fragments and selective protection of target sequences from degradation
WO2011056094A2 (ru) * 2009-10-26 2011-05-12 Общество С Ограниченной Ответственностью "Апoгeй" Пожарный вентиль
CA2778926C (en) 2009-10-26 2018-03-27 Lifecodexx Ag Means and methods for non-invasive diagnosis of chromosomal aneuploidy
ES2934941T3 (es) * 2009-11-05 2023-02-28 Univ Hong Kong Chinese Análisis genómico fetal a partir de una muestra biológica materna
JP2013510580A (ja) 2009-11-12 2013-03-28 エソテリックス ジェネティック ラボラトリーズ， エルエルシー 遺伝子座のコピー数の分析
WO2011091063A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
DK2366031T3 (da) 2010-01-19 2015-02-23 Verinata Health Inc Fremgangsmåder til sekventering i prænatale diagnoser
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20120237928A1 (en) 2010-10-26 2012-09-20 Verinata Health, Inc. Method for determining copy number variations
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
CA2825984A1 (en) 2010-02-25 2011-09-01 Advanced Liquid Logic, Inc. Method of making nucleic acid libraries
WO2012012037A1 (en) * 2010-07-19 2012-01-26 New England Biolabs, Inc. Oligonucleotide adaptors: compositions and methods of use
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
CN102409043B (zh) 2010-09-21 2013-12-04 深圳华大基因科技服务有限公司 高通量低成本Fosmid文库构建的方法及其所使用标签和标签接头
MY169852A (en) 2010-11-30 2019-05-17 Univ Hong Kong Chinese 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
CN102127818A (zh) 2010-12-15 2011-07-20 张康 利用孕妇外周血建立胎儿dna文库的方法
AU2011348267A1 (en) 2010-12-23 2013-08-01 Sequenom, Inc. Fetal genetic variation detection
WO2012103031A2 (en) 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
EP2673729B1 (en) 2011-02-09 2018-10-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
PL3567124T3 (pl) 2011-04-12 2022-04-19 Verinata Health, Inc. Rozdzielanie frakcji genomu z wykorzystaniem liczby polimorfizmu
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
EP2563937A1 (en) 2011-07-26 2013-03-06 Verinata Health, Inc Method for determining the presence or absence of different aneuploidies in a sample

Also Published As

Publication number Publication date
EP4074838A1 (en) 2022-10-19
AU2010343277A1 (en) 2012-09-06
US20110245085A1 (en) 2011-10-06
EP4450645A2 (en) 2024-10-23
US20170327881A1 (en) 2017-11-16
DK2513339T3 (da) 2015-12-14
HK1170269A1 (en) 2013-02-22
DK2376661T3 (da) 2015-02-02
US20120165203A1 (en) 2012-06-28
GB2479080B (en) 2012-01-18
US11884975B2 (en) 2024-01-30
EP2848704A1 (en) 2015-03-18
PL2376661T3 (pl) 2015-06-30
US9657342B2 (en) 2017-05-23
CA2785718C (en) 2017-04-04
HK1162197A1 (en) 2012-08-24
US20120094849A1 (en) 2012-04-19
EP2883965A1 (en) 2015-06-17
GB2479471B (en) 2012-02-08
AU2010343277B2 (en) 2015-05-28
CY1124494T1 (el) 2022-07-22
US20220017958A1 (en) 2022-01-20
EP3492601B1 (en) 2022-01-05
AU2010343279A1 (en) 2012-09-06
PL2366031T3 (pl) 2015-08-31
EP2366031B1 (en) 2015-01-21
ES2870533T3 (es) 2021-10-27
EP2883965B1 (en) 2018-05-09
GB2485644A (en) 2012-05-23
EP2883965B8 (en) 2018-06-27
US10941442B2 (en) 2021-03-09
AU2010343276A1 (en) 2012-09-06
EP2370599A1 (en) 2011-10-05
GB2479471A (en) 2011-10-12
US20170327883A1 (en) 2017-11-16
HK1170270A1 (en) 2013-02-22
GB2479080A (en) 2011-09-28
EP4450645A3 (en) 2025-01-22
GB2479476A (en) 2011-10-12
EP3006573B1 (en) 2018-03-07
PL3492601T3 (pl) 2022-05-23
US11952623B2 (en) 2024-04-09
EP3006573A1 (en) 2016-04-13
WO2011090558A1 (en) 2011-07-28
DK3260555T3 (da) 2019-01-21
EP2370599B1 (en) 2015-01-21
GB201108794D0 (en) 2011-07-06
EP2848704B1 (en) 2018-08-29
EP3878973B1 (en) 2024-07-10
US20110224087A1 (en) 2011-09-15
EP3492601A1 (en) 2019-06-05
ES2534986T3 (es) 2015-05-04
DK3382037T3 (da) 2021-05-25
EP2848703A1 (en) 2015-03-18
GB201107268D0 (en) 2011-06-15
ES2909841T3 (es) 2022-05-10
AU2010343279B2 (en) 2015-04-23
US20210340613A1 (en) 2021-11-04
GB2485645B (en) 2012-11-21
EP2366031A4 (en) 2012-03-21
GB2485645A (en) 2012-05-23
EP3260555B1 (en) 2018-10-24
HK1177232A1 (zh) 2013-08-16
EP3382037A1 (en) 2018-10-03
US20110201507A1 (en) 2011-08-18
PL3260555T3 (pl) 2019-05-31
WO2011090559A1 (en) 2011-07-28
TR201807917T4 (tr) 2018-06-21
CA2786351C (en) 2022-01-25
CA2785718A1 (en) 2011-07-28
US20170327884A1 (en) 2017-11-16
EP3260555A1 (en) 2017-12-27
ES2704701T3 (es) 2019-03-19
EP2376661A4 (en) 2012-03-21
GB2485644B (en) 2012-11-21
EP3878973A1 (en) 2021-09-15
EP2513339B1 (en) 2015-09-09
EP2376661A1 (en) 2011-10-19
ES2534758T3 (es) 2015-04-28
HK1160186A1 (en) 2012-08-10
EP2513339A4 (en) 2013-05-29
ES2560929T3 (es) 2016-02-23
DK3492601T3 (da) 2022-04-04
CA2786544A1 (en) 2011-07-28
US20240150828A1 (en) 2024-05-09
EP2376661B1 (en) 2015-01-21
EP2366031A1 (en) 2011-09-21
GB2479476B (en) 2012-06-13
US20220106639A1 (en) 2022-04-07
GB201118396D0 (en) 2011-12-07
AU2010343276B2 (en) 2015-05-28
CA2786357A1 (en) 2011-07-28
CA2786544C (en) 2020-11-10
EP2370599A4 (en) 2012-03-21
EP3382037B1 (en) 2021-02-17
EP2513339A1 (en) 2012-10-24
US11286520B2 (en) 2022-03-29
US11130995B2 (en) 2021-09-28
AU2010343278A1 (en) 2012-09-06
GB201108795D0 (en) 2011-07-06
CA2786351A1 (en) 2011-07-28
GB201118398D0 (en) 2011-12-07
HK1160185A1 (en) 2012-08-10
WO2011090557A1 (en) 2011-07-28
AU2010343278B2 (en) 2015-05-21
CA2786357C (en) 2018-08-21

Similar Documents

Publication Publication Date Title
US11884975B2 (en) Sequencing methods and compositions for prenatal diagnoses
US20220228197A1 (en) Method for determining copy number variations
US20120270739A1 (en) Method for sample analysis of aneuploidies in maternal samples
AU2022283736A1 (en) Sequencing methods and compositions for prenatal diagnoses