WO2011051283A1 - Means and methods for non-invasive diagnosis of chromosomal aneuploidy - Google Patents
Means and methods for non-invasive diagnosis of chromosomal aneuploidy Download PDFInfo
- Publication number
- WO2011051283A1 WO2011051283A1 PCT/EP2010/066161 EP2010066161W WO2011051283A1 WO 2011051283 A1 WO2011051283 A1 WO 2011051283A1 EP 2010066161 W EP2010066161 W EP 2010066161W WO 2011051283 A1 WO2011051283 A1 WO 2011051283A1
- Authority
- WO
- WIPO (PCT)
- Prior art keywords
- chromosomes
- target sequences
- determining
- amount
- biological sample
- Prior art date
Links
Classifications
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
- G01N33/574—Immunoassay; Biospecific binding assay; Materials therefor for cancer
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6851—Quantitative amplification
-
- 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
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/36—Gynecology or obstetrics
- G01N2800/368—Pregnancy complicated by disease or abnormalities of pregnancy, e.g. preeclampsia, preterm labour
-
- 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
-
- 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
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Organic Chemistry (AREA)
- Immunology (AREA)
- Analytical Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Physics & Mathematics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biophysics (AREA)
- Biomedical Technology (AREA)
- General Engineering & Computer Science (AREA)
- Genetics & Genomics (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Hematology (AREA)
- Urology & Nephrology (AREA)
- Oncology (AREA)
- Hospice & Palliative Care (AREA)
- Cell Biology (AREA)
- Food Science & Technology (AREA)
- Medicinal Chemistry (AREA)
- General Physics & Mathematics (AREA)
- Pathology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
Description
Claims
Priority Applications (6)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
EP10768959.8A EP2494065B1 (en) | 2009-10-26 | 2010-10-26 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
US13/502,498 US9784742B2 (en) | 2009-10-26 | 2010-10-26 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
AU2010311535A AU2010311535B2 (en) | 2009-10-26 | 2010-10-26 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
CA2778926A CA2778926C (en) | 2009-10-26 | 2010-10-26 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
ES10768959.8T ES2564656T3 (en) | 2009-10-26 | 2010-10-26 | Means and methods for the non-invasive diagnosis of chromosomal aneuploidy |
US15/697,277 US20170363628A1 (en) | 2009-10-26 | 2017-09-06 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US27272209P | 2009-10-26 | 2009-10-26 | |
US61/272,722 | 2009-10-26 |
Related Child Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
US13/502,498 A-371-Of-International US9784742B2 (en) | 2009-10-26 | 2010-10-26 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
US15/697,277 Division US20170363628A1 (en) | 2009-10-26 | 2017-09-06 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
Publications (1)
Publication Number | Publication Date |
---|---|
WO2011051283A1 true WO2011051283A1 (en) | 2011-05-05 |
Family
ID=43216609
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
PCT/EP2010/066161 WO2011051283A1 (en) | 2009-10-26 | 2010-10-26 | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
Country Status (6)
Country | Link |
---|---|
US (2) | US9784742B2 (en) |
EP (2) | EP2494065B1 (en) |
AU (1) | AU2010311535B2 (en) |
CA (1) | CA2778926C (en) |
ES (1) | ES2564656T3 (en) |
WO (1) | WO2011051283A1 (en) |
Cited By (43)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
GB2479080B (en) * | 2010-01-19 | 2012-01-18 | Verinata Health Inc | Sequencing methods and compositions for prenatal diagnoses |
US8318430B2 (en) | 2010-01-23 | 2012-11-27 | Verinata Health, Inc. | Methods of fetal abnormality detection |
WO2013015793A1 (en) * | 2011-07-26 | 2013-01-31 | Verinata Health, Inc. | Method for determining the presence or absence of different aneuploidies in a sample |
US8532936B2 (en) | 2011-04-14 | 2013-09-10 | Verinata Health, Inc. | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
WO2014014497A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a cancer genome |
WO2014015319A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | System for determining a copy number variation |
EP2716766A1 (en) * | 2011-05-31 | 2014-04-09 | Berry Genomics Co., Ltd. | A kit, a device and a method for detecting copy number of fetal chromosomes or tumor cell chromosomes |
US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US9447453B2 (en) | 2011-04-12 | 2016-09-20 | Verinata Health, Inc. | Resolving genome fractions using polymorphism counts |
US9493828B2 (en) | 2010-01-19 | 2016-11-15 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acids in maternal samples |
US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
WO2019020180A1 (en) | 2017-07-26 | 2019-01-31 | Trisomytest, S.R.O. | A method for non-invasive prenatal detection of fetal chromosome aneuploidy from maternal blood based on bayesian network |
WO2019025004A1 (en) | 2017-08-04 | 2019-02-07 | 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 |
US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
US10586610B2 (en) | 2010-01-19 | 2020-03-10 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US10662474B2 (en) | 2010-01-19 | 2020-05-26 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing |
EP3760732A1 (en) * | 2011-02-09 | 2021-01-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
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 |
US11060145B2 (en) | 2013-03-13 | 2021-07-13 | Sequenom, Inc. | Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus |
US11111538B2 (en) | 2015-05-22 | 2021-09-07 | Nipd Genetics Public Company Ltd | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
US11111545B2 (en) | 2010-05-18 | 2021-09-07 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11111544B2 (en) | 2005-07-29 | 2021-09-07 | 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 |
WO2021243045A1 (en) * | 2020-05-29 | 2021-12-02 | Natera, Inc. | Methods for detection of donor-derived cell-free dna |
US11286530B2 (en) | 2010-05-18 | 2022-03-29 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11306359B2 (en) | 2005-11-26 | 2022-04-19 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
US11306357B2 (en) | 2010-05-18 | 2022-04-19 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11319596B2 (en) | 2014-04-21 | 2022-05-03 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
US11332774B2 (en) | 2010-10-26 | 2022-05-17 | Verinata Health, Inc. | Method for determining copy number variations |
US11332785B2 (en) | 2010-05-18 | 2022-05-17 | 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 |
US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US11390916B2 (en) | 2014-04-21 | 2022-07-19 | 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 |
US11479812B2 (en) | 2015-05-11 | 2022-10-25 | Natera, Inc. | Methods and compositions for determining ploidy |
US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
US11519028B2 (en) | 2016-12-07 | 2022-12-06 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
Families Citing this family (12)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
IL269097B2 (en) | 2012-09-04 | 2024-01-01 | Guardant 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 |
US11913065B2 (en) | 2012-09-04 | 2024-02-27 | Guardent 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 |
CA2934822A1 (en) | 2013-12-28 | 2015-07-02 | Guardant Health, Inc. | Methods and systems for detecting genetic variants |
IL305462A (en) | 2015-07-23 | 2023-10-01 | Univ Hong Kong Chinese | Analysis of fragmentation patterns of cell-free dna |
SG11201805119QA (en) | 2015-12-17 | 2018-07-30 | Guardant Health Inc | Methods to determine tumor gene copy number by analysis of cell-free dna |
TWI803477B (en) | 2017-01-25 | 2023-06-01 | 香港中文大學 | Diagnostic applications using nucleic acid fragments |
CN111051511A (en) * | 2017-08-04 | 2020-04-21 | 十亿至一公司 | Target-associated molecules for characterization associated with biological targets |
WO2019175876A2 (en) * | 2018-03-13 | 2019-09-19 | Yissum Research Development Company Of The Hebrew University Of Jerusalem Ltd. | Diagnostic use of cell free dna chromatin immunoprecipitation |
AU2019351130A1 (en) | 2018-09-27 | 2021-04-08 | Grail, Llc | Methylation markers and targeted methylation probe panel |
CN112662756A (en) * | 2021-01-26 | 2021-04-16 | 上海博奥颐和医学检验所有限公司 | Fetal chromosome aneuploid genome sequencing detection method |
Citations (4)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2007121276A2 (en) * | 2006-04-12 | 2007-10-25 | Biocept, Inc. | Enrichment of circulating fetal dna |
WO2009013496A1 (en) | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
WO2009097511A2 (en) * | 2008-01-30 | 2009-08-06 | Biocept, Inc. | Two stage enrichment of cell-free fetal dna in maternal plasma |
WO2010033578A2 (en) | 2008-09-20 | 2010-03-25 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
-
2010
- 2010-10-26 EP EP10768959.8A patent/EP2494065B1/en not_active Not-in-force
- 2010-10-26 ES ES10768959.8T patent/ES2564656T3/en active Active
- 2010-10-26 WO PCT/EP2010/066161 patent/WO2011051283A1/en active Application Filing
- 2010-10-26 EP EP14183913.4A patent/EP2824191A3/en not_active Withdrawn
- 2010-10-26 AU AU2010311535A patent/AU2010311535B2/en not_active Ceased
- 2010-10-26 CA CA2778926A patent/CA2778926C/en not_active Expired - Fee Related
- 2010-10-26 US US13/502,498 patent/US9784742B2/en not_active Expired - Fee Related
-
2017
- 2017-09-06 US US15/697,277 patent/US20170363628A1/en not_active Abandoned
Patent Citations (6)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2007121276A2 (en) * | 2006-04-12 | 2007-10-25 | Biocept, Inc. | Enrichment of circulating fetal dna |
WO2009013496A1 (en) | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
EP2183693A1 (en) | 2007-07-23 | 2010-05-12 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
EP2183692A1 (en) | 2007-07-23 | 2010-05-12 | The Chinese University Of Hong Kong | Determining a nucleic acid sequence imbalance |
WO2009097511A2 (en) * | 2008-01-30 | 2009-08-06 | Biocept, Inc. | Two stage enrichment of cell-free fetal dna in maternal plasma |
WO2010033578A2 (en) | 2008-09-20 | 2010-03-25 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
Non-Patent Citations (36)
Title |
---|
BARSKI, CELL, vol. 129, 2007, pages 823 - 837 |
BREMNES R M ET AL: "Circulating tumour-derived DNA and RNA markers in blood: a tool for early detection, diagnostics, and follow-up?", LUNG CANCER, ELSEVIER, AMSTERDAM, NL, vol. 49, no. 1, 1 July 2005 (2005-07-01), pages 1 - 12, XP025286820, ISSN: 0169-5002, [retrieved on 20050701], DOI: DOI:10.1016/J.LUNGCAN.2004.12.008 * |
CHAN, KC ET AL., CLIN CHEM, vol. 52, 2006, pages 2211 - 8 |
CHIU, PROC NATL ACAD ! SCI USA, vol. 105, no. 51, 2008, pages 20458 - 63 |
CHIU, RW ET AL., PNAS, vol. 105, 2008, pages 20458 - 20463 |
COSTA, J M ET AL., N ENGL JMED, vol. 346, 2002, pages 1502 |
DHALLAN, R ET AL., JAMA, vol. 291, 2004, pages 1114 - 1119 |
DOWDY; WEARDEN: "Statistics for Research", 1983, JOHN WILEY & SONS |
ERNANI ET AL.: "Agilent's SureSelect Target Enrichment System: Bringing Cost and Process Efficiency to Next-Generation Sequencing", 16 March 2009 (2009-03-16), XP002613060, Retrieved from the Internet <URL:http://www.chem.agilent.com/Library/brochures/5990-3532en_lo%20CMS.pdf> [retrieved on 20101203] * |
FAN H CHRISTINA ET AL: "Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood.", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 21 OCT 2008 LNKD- PUBMED:18838674, vol. 105, no. 42, 21 October 2008 (2008-10-21), pages 16266 - 16271, XP002613056, ISSN: 1091-6490 * |
FAN, HC ET AL., PNAS, vol. 105, 2008, pages 16266 - 16271 |
FAN, HC; QUAKE, SR, ANAL CHEM, vol. 79, 2007, pages 7576 - 7579 |
FAN, PROC. NATL. ACAD. SCI. USA, vol. 105, 2008, pages 16266 - 16271 |
FIELDS, SCIENCE, vol. 316, 2007, pages 1441 - 1442 |
GNIRKE, A ET AL., NAT BIOTECHNOL, vol. 27, 2009, pages 182 - 189 |
GNIRKE, NAT BIOTECHNOLOGY, vol. 27, no. 2, 2009, pages 182 - 189 |
JOHNSON, SCIENCE, vol. 316, 2007, pages 1497 - 1502 |
JORGEZ CAROLINA J ET AL: "Improving enrichment of circulating fetal DNA for genetic testing: size fractionation followed by whole gene amplification.", FETAL DIAGNOSIS AND THERAPY 2009 LNKD- PUBMED:19776594, vol. 25, no. 3, 22 September 2009 (2009-09-22), pages 314 - 319, XP002613059, ISSN: 1421-9964 * |
LI; DURBIN, BIOINFORMATICS, vol. 25, 2009, pages 1754 - 1760 |
LO Y M DENNIS ET AL: "Noninvasive prenatal diagnosis of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis", CLINICAL CHEMISTRY, AMERICAN ASSOCIATION FOR CLINICAL CHEMISTRY, WASHINGTON, DC, vol. 54, no. 3, 17 January 2008 (2008-01-17), pages 461 - 466, XP001536860, ISSN: 0009-9147, DOI: DOI:10.1373/CLINCHEM.2007.100016 * |
LO, Y M D ET AL., NENGL JMED, vol. 339, 1998, pages 1734 - 1738 |
LO, YMD ET AL., AM J HUM GENET, vol. 62, 1998, pages 768 - 775 |
LO, YMD ET AL., LANCET, vol. 350, 1997, pages 485 - 487 |
LO, YMD ET AL., PNAS, vol. 104, 2007, pages 13116 - 13121 |
LO, YMD; CHIU, RWK, NAT REV GENET, vol. 8, 2007, pages 71 - 77 |
MALONE ET AL., N ENG J MED, vol. 353, 2005, pages 2001 - 2011 |
MARGULIES, M ET AL., NATURE, vol. 437, 2005, pages 376 - 380 |
MIKKELSEN, NATURE, vol. 448, 2007, pages 553 - 560 |
MITELMAN: "Database of Chromosome Aberrations and Gene Fusions in Cancer", 2010 |
MÜLLER I ET AL: "Identification of loss of heterozygosity on circulating free DNA in peripheral blood of prostate cancer patients: potential and technical improvements", CLINICAL CHEMISTRY, AMERICAN ASSOCIATION FOR CLINICAL CHEMISTRY, WASHINGTON, DC, vol. 54, no. 4, 1 April 2008 (2008-04-01), pages 688 - 696, XP008095938, ISSN: 0009-9147, DOI: DOI:10.1373/CLINCHEM.2007.099333 * |
PARAMESWARAN, NUCL. ACIDS RES., vol. 35, no. 19, 2007, pages E130 |
ROBERTSON, NATURE METHODS, vol. 4, 2007, pages 651 - 657 |
SCHONES, CELL, vol. 132, no. 5, 2008, pages 887 - 898 |
SWARUP ET AL: "Circulating (cell-free) nucleic acids - A promising, non-invasive tool for early detection of several human diseases", FEBS LETTERS, ELSEVIER, AMSTERDAM, NL, vol. 581, no. 5, 24 February 2007 (2007-02-24), pages 795 - 799, XP005916827, ISSN: 0014-5793, DOI: DOI:10.1016/J.FEBSLET.2007.01.051 * |
WRIGHT CAROLINE F ET AL: "The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis.", HUMAN REPRODUCTION UPDATE 2009 JAN-FEB LNKD- PUBMED:18945714, vol. 15, no. 1, January 2009 (2009-01-01), pages 139 - 151, XP002613058, ISSN: 1460-2369 * |
WU X ET AL: "Chromosome 5 aberrations and genetic predisposition to lung cancer.", INTERNATIONAL JOURNAL OF CANCER. JOURNAL INTERNATIONAL DU CANCER 23 OCT 1998 LNKD- PUBMED:9761118, vol. 79, no. 5, 23 October 1998 (1998-10-23), pages 490 - 493, XP002613057, ISSN: 0020-7136 * |
Cited By (79)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US11111544B2 (en) | 2005-07-29 | 2021-09-07 | 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 |
US11306359B2 (en) | 2005-11-26 | 2022-04-19 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
US10941442B2 (en) | 2010-01-19 | 2021-03-09 | Verinata Health, Inc. | Sequencing methods and compositions for prenatal diagnoses |
GB2479080B (en) * | 2010-01-19 | 2012-01-18 | Verinata Health Inc | Sequencing methods and compositions for prenatal diagnoses |
US10482993B2 (en) | 2010-01-19 | 2019-11-19 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
US11875899B2 (en) | 2010-01-19 | 2024-01-16 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
US11130995B2 (en) | 2010-01-19 | 2021-09-28 | Verinata Health, Inc. | Simultaneous determination of aneuploidy and fetal fraction |
US11697846B2 (en) | 2010-01-19 | 2023-07-11 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US9493828B2 (en) | 2010-01-19 | 2016-11-15 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acids in maternal samples |
US10415089B2 (en) | 2010-01-19 | 2019-09-17 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US10586610B2 (en) | 2010-01-19 | 2020-03-10 | Verinata Health, Inc. | Detecting and classifying copy number variation |
US11286520B2 (en) | 2010-01-19 | 2022-03-29 | 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 |
US10612096B2 (en) | 2010-01-19 | 2020-04-07 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acids in maternal samples |
US10662474B2 (en) | 2010-01-19 | 2020-05-26 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing |
US9657342B2 (en) | 2010-01-19 | 2017-05-23 | Verinata Health, Inc. | Sequencing methods for prenatal diagnoses |
US11884975B2 (en) | 2010-01-19 | 2024-01-30 | Verinata Health, Inc. | Sequencing methods and compositions for prenatal diagnoses |
US11952623B2 (en) | 2010-01-19 | 2024-04-09 | Verinata Health, Inc. | Simultaneous determination of aneuploidy and fetal fraction |
US9493831B2 (en) | 2010-01-23 | 2016-11-15 | Verinata Health, Inc. | Methods of fetal abnormality detection |
US8318430B2 (en) | 2010-01-23 | 2012-11-27 | Verinata Health, Inc. | Methods of fetal abnormality detection |
US10718020B2 (en) | 2010-01-23 | 2020-07-21 | Verinata Health, Inc. | Methods of fetal abnormality detection |
US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
US11519035B2 (en) | 2010-05-18 | 2022-12-06 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11332793B2 (en) | 2010-05-18 | 2022-05-17 | 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 |
US11286530B2 (en) | 2010-05-18 | 2022-03-29 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11482300B2 (en) | 2010-05-18 | 2022-10-25 | Natera, Inc. | Methods for preparing a DNA fraction from a biological sample for analyzing genotypes of cell-free DNA |
US11525162B2 (en) | 2010-05-18 | 2022-12-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11312996B2 (en) | 2010-05-18 | 2022-04-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11306357B2 (en) | 2010-05-18 | 2022-04-19 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11939634B2 (en) | 2010-05-18 | 2024-03-26 | 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 |
US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US11111545B2 (en) | 2010-05-18 | 2021-09-07 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11746376B2 (en) | 2010-05-18 | 2023-09-05 | Natera, Inc. | Methods for amplification of cell-free DNA using ligated adaptors and universal and inner target-specific primers for multiplexed nested PCR |
US11332774B2 (en) | 2010-10-26 | 2022-05-17 | Verinata Health, Inc. | Method for determining copy number variations |
EP3760732A1 (en) * | 2011-02-09 | 2021-01-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
US10658070B2 (en) | 2011-04-12 | 2020-05-19 | Verinata Health, Inc. | Resolving genome fractions using polymorphism counts |
US9447453B2 (en) | 2011-04-12 | 2016-09-20 | Verinata Health, Inc. | Resolving genome fractions using polymorphism counts |
US8532936B2 (en) | 2011-04-14 | 2013-09-10 | 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 |
US9885080B2 (en) | 2011-05-31 | 2018-02-06 | Berry Genomics Co., Ltd. | Kit, a device and a method for detecting copy number of fetal chromosomes or tumor cell chromosomes |
EP2716766A4 (en) * | 2011-05-31 | 2014-11-26 | Berry Genomics Co Ltd | A kit, a device and a method for detecting copy number of fetal chromosomes or tumor cell chromosomes |
EP2716766A1 (en) * | 2011-05-31 | 2014-04-09 | Berry Genomics Co., Ltd. | A kit, a device and a method for detecting copy number of fetal chromosomes or tumor cell chromosomes |
JP2014521334A (en) * | 2011-07-26 | 2014-08-28 | ベリナタ ヘルス インコーポレイテッド | How to determine the presence or absence of different aneuploidies in a sample |
WO2013015793A1 (en) * | 2011-07-26 | 2013-01-31 | Verinata Health, Inc. | Method for determining the presence or absence of different aneuploidies in a sample |
KR20140050032A (en) * | 2011-07-26 | 2014-04-28 | 베리나타 헬스, 인코포레이티드 | Method for determining the presence or absence of different aneuploidies in a sample |
KR101974492B1 (en) | 2011-07-26 | 2019-05-02 | 베리나타 헬스, 인코포레이티드 | Method for determining the presence or absence of different aneuploidies in a sample |
US11312997B2 (en) | 2012-03-02 | 2022-04-26 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US10738359B2 (en) | 2012-03-02 | 2020-08-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
WO2014014497A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a cancer genome |
WO2014015319A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | System for determining a copy number variation |
WO2014014498A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a fetal genome |
US11060145B2 (en) | 2013-03-13 | 2021-07-13 | Sequenom, Inc. | Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus |
US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
US11408037B2 (en) | 2014-04-21 | 2022-08-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11414709B2 (en) | 2014-04-21 | 2022-08-16 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11390916B2 (en) | 2014-04-21 | 2022-07-19 | Natera, Inc. | Methods for simultaneous amplification of target loci |
US11371100B2 (en) | 2014-04-21 | 2022-06-28 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11486008B2 (en) | 2014-04-21 | 2022-11-01 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11319595B2 (en) | 2014-04-21 | 2022-05-03 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11530454B2 (en) | 2014-04-21 | 2022-12-20 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11319596B2 (en) | 2014-04-21 | 2022-05-03 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
US11479812B2 (en) | 2015-05-11 | 2022-10-25 | Natera, Inc. | Methods and compositions for determining ploidy |
US11946101B2 (en) | 2015-05-11 | 2024-04-02 | Natera, Inc. | Methods and compositions for determining ploidy |
US11111538B2 (en) | 2015-05-22 | 2021-09-07 | Nipd Genetics Public Company Ltd | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
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 |
US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
US11530442B2 (en) | 2016-12-07 | 2022-12-20 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
US11519028B2 (en) | 2016-12-07 | 2022-12-06 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
WO2019020180A1 (en) | 2017-07-26 | 2019-01-31 | Trisomytest, S.R.O. | A method for non-invasive prenatal detection of fetal chromosome aneuploidy from maternal blood based on bayesian network |
WO2019025004A1 (en) | 2017-08-04 | 2019-02-07 | 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 |
US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
WO2021243045A1 (en) * | 2020-05-29 | 2021-12-02 | Natera, Inc. | Methods for detection of donor-derived cell-free dna |
Also Published As
Publication number | Publication date |
---|---|
AU2010311535B2 (en) | 2015-05-21 |
ES2564656T3 (en) | 2016-03-28 |
CA2778926A1 (en) | 2011-05-05 |
AU2010311535A1 (en) | 2012-05-24 |
EP2824191A3 (en) | 2015-02-18 |
US9784742B2 (en) | 2017-10-10 |
US20130017958A1 (en) | 2013-01-17 |
CA2778926C (en) | 2018-03-27 |
EP2494065B1 (en) | 2015-12-23 |
EP2494065A1 (en) | 2012-09-05 |
US20170363628A1 (en) | 2017-12-21 |
EP2824191A2 (en) | 2015-01-14 |
Similar Documents
Publication | Publication Date | Title |
---|---|---|
US20170363628A1 (en) | Means and methods for non-invasive diagnosis of chromosomal aneuploidy | |
JP6760917B2 (en) | Analysis of genomic fractions using polymorphic counts | |
US10767228B2 (en) | Fetal chromosomal aneuploidy diagnosis | |
AU2022200046B2 (en) | Maternal plasma transcriptome analysis by massively parallel RNA sequencing | |
JP6830094B2 (en) | Nucleic acids and methods for detecting chromosomal abnormalities | |
KR102339760B1 (en) | Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing | |
US9353414B2 (en) | Noninvasive diagnosis of fetal aneuploidy by sequencing | |
Hahn et al. | Determination of fetal chromosome aberrations from fetal DNA in maternal blood: has the challenge finally been met? | |
JP2018531583A (en) | Single molecule sequencing of plasma DNA | |
EP3662479A1 (en) | A method for non-invasive prenatal detection of fetal sex chromosomal abnormalities and fetal sex determination for singleton and twin pregnancies | |
JP2020512000A (en) | How to detect fetal chromosomal abnormalities | |
Ivashchenko et al. | Noninvasive prenatal testing using next generation sequencing: pilot experience of the DO Ott research institute of obstetrics, gynecology and reproductology | |
JP2023527761A (en) | Nucleic acid sample enrichment and screening methods | |
KR101907650B1 (en) | Method of non-invasive trisomy detection of fetal aneuploidy | |
AU2021200569B2 (en) | Noninvasive diagnosis of fetal aneuploidy by sequencing | |
WO2015181718A1 (en) | Method of prenatal diagnosis | |
US20220145368A1 (en) | Methods for noninvasive prenatal testing of fetal abnormalities | |
WO2024076469A1 (en) | Non-invasive methods of assessing transplant rejection in pregnant transplant recipients | |
WO2019092438A1 (en) | Method of detecting a fetal chromosomal abnormality |
Legal Events
Date | Code | Title | Description |
---|---|---|---|
121 | Ep: the epo has been informed by wipo that ep was designated in this application |
Ref document number: 10768959 Country of ref document: EP Kind code of ref document: A1 |
|
WWE | Wipo information: entry into national phase |
Ref document number: 2010311535 Country of ref document: AU |
|
WWE | Wipo information: entry into national phase |
Ref document number: 2778926 Country of ref document: CA |
|
NENP | Non-entry into the national phase |
Ref country code: DE |
|
WWE | Wipo information: entry into national phase |
Ref document number: 2010768959 Country of ref document: EP |
|
ENP | Entry into the national phase |
Ref document number: 2010311535 Country of ref document: AU Date of ref document: 20101026 Kind code of ref document: A |
|
WWE | Wipo information: entry into national phase |
Ref document number: 13502498 Country of ref document: US |