CA2780016C - Size-based genomic analysis - Google Patents
Size-based genomic analysis Download PDFInfo
- Publication number
- CA2780016C CA2780016C CA2780016A CA2780016A CA2780016C CA 2780016 C CA2780016 C CA 2780016C CA 2780016 A CA2780016 A CA 2780016A CA 2780016 A CA2780016 A CA 2780016A CA 2780016 C CA2780016 C CA 2780016C
- Authority
- CA
- Canada
- Prior art keywords
- nucleic acid
- chromosome
- size
- acid molecules
- biological sample
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
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Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/112—Disease subtyping, staging or classification
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Physics & Mathematics (AREA)
- Analytical Chemistry (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Biotechnology (AREA)
- Molecular Biology (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Evolutionary Biology (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US25907609P | 2009-11-06 | 2009-11-06 | |
| US61/259,076 | 2009-11-06 | ||
| US36039910P | 2010-06-30 | 2010-06-30 | |
| US61/360,399 | 2010-06-30 | ||
| PCT/EP2010/066935 WO2011054936A1 (en) | 2009-11-06 | 2010-11-05 | Size-based genomic analysis |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CA2780016A1 CA2780016A1 (en) | 2011-05-12 |
| CA2780016C true CA2780016C (en) | 2017-09-19 |
Family
ID=43530526
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2780016A Active CA2780016C (en) | 2009-11-06 | 2010-11-05 | Size-based genomic analysis |
Country Status (12)
| Country | Link |
|---|---|
| US (4) | US8620593B2 (https=) |
| EP (3) | EP2496713B1 (https=) |
| JP (2) | JP5770737B2 (https=) |
| CN (2) | CN102791881B (https=) |
| AU (1) | AU2010317019B2 (https=) |
| CA (1) | CA2780016C (https=) |
| EA (1) | EA034241B1 (https=) |
| ES (1) | ES3026544T3 (https=) |
| IL (1) | IL219545A (https=) |
| MX (2) | MX357692B (https=) |
| TW (1) | TWI445854B (https=) |
| WO (1) | WO2011054936A1 (https=) |
Families Citing this family (76)
| Publication number | Priority date | Publication date | Assignee | Title |
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| LT2557517T (lt) * | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| CA2717320A1 (en) | 2008-03-11 | 2009-09-17 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
| 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 |
| 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 |
| LT3783110T (lt) | 2009-11-05 | 2023-01-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| EA034241B1 (ru) * | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
| EP3088532B1 (en) | 2009-12-22 | 2019-10-30 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| CN101921874B (zh) * | 2010-06-30 | 2013-09-11 | 深圳华大基因科技有限公司 | 基于Solexa测序法的检测人类乳头瘤病毒的方法 |
| US10167508B2 (en) | 2010-08-06 | 2019-01-01 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| US11031095B2 (en) | 2010-08-06 | 2021-06-08 | Ariosa Diagnostics, Inc. | Assay systems for determination of fetal copy number variation |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
| US10533223B2 (en) | 2010-08-06 | 2020-01-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| MX349568B (es) | 2010-11-30 | 2017-08-03 | Univ Hong Kong Chinese | Deteccion de aberraciones geneticas o moleculares asociadas con el cancer. |
| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| US9994897B2 (en) | 2013-03-08 | 2018-06-12 | Ariosa Diagnostics, Inc. | Non-invasive fetal sex determination |
| US10131947B2 (en) | 2011-01-25 | 2018-11-20 | Ariosa Diagnostics, Inc. | Noninvasive detection of fetal aneuploidy in egg donor pregnancies |
| US8756020B2 (en) | 2011-01-25 | 2014-06-17 | Ariosa Diagnostics, Inc. | Enhanced risk probabilities using biomolecule estimations |
| WO2012149339A2 (en) | 2011-04-29 | 2012-11-01 | Sequenom, Inc. | Quantification of a minority nucleic acid species |
| US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2013060762A1 (en) * | 2011-10-25 | 2013-05-02 | Roche Diagnostics Gmbh | Method for diagnosing a disease based on plasma-dna distribution |
| HK1206055A1 (en) | 2012-03-02 | 2015-12-31 | 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 |
| JP6411995B2 (ja) * | 2012-03-13 | 2018-10-24 | ザ チャイニーズ ユニバーシティー オブ ホンコン | 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法 |
| US10289800B2 (en) | 2012-05-21 | 2019-05-14 | Ariosa Diagnostics, Inc. | Processes for calculating phased fetal genomic sequences |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US20140093873A1 (en) | 2012-07-13 | 2014-04-03 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| JP2015522293A (ja) | 2012-07-19 | 2015-08-06 | アリオサ ダイアグノスティックス インコーポレイテッドＡｒｉｏｓａ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． | 多重化連続ライゲーションに基づく遺伝子変異体の検出 |
| GB201215449D0 (en) * | 2012-08-30 | 2012-10-17 | Zoragen Biotechnologies Llp | Method of detecting chromosonal abnormalities |
| BR122021021823B1 (pt) | 2012-09-20 | 2023-04-25 | The Chinese University Of Hong Kong | Método para determinar um primeiro perfil de metilação de uma amostra biológica de um organismo, e, meio de armazenamento de memória |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
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| CN107002122B (zh) | 2014-07-25 | 2023-09-19 | 华盛顿大学 | 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法 |
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| US11242559B2 (en) | 2015-01-13 | 2022-02-08 | The Chinese University Of Hong Kong | Method of nuclear DNA and mitochondrial DNA analysis |
| US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| US10319463B2 (en) * | 2015-01-23 | 2019-06-11 | The Chinese University Of Hong Kong | Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations |
| EP3256605B1 (en) | 2015-02-10 | 2022-02-09 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| CN104789686B (zh) * | 2015-05-06 | 2018-09-07 | 浙江安诺优达生物科技有限公司 | 检测染色体非整倍性的试剂盒和装置 |
| PL3666902T3 (pl) | 2015-05-22 | 2025-02-03 | Medicover Public Co Ltd | Multipleksowa równoległa analiza docelowych regionów genomowych do nieinwazyjnych badań prenatalnych |
| EP4063517B1 (en) | 2015-07-20 | 2026-01-07 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in cell-free dna mixtures of maternal and fetal dna |
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| CN108827887B (zh) * | 2018-03-19 | 2021-05-18 | 陕西学前师范学院 | 一种商陆基因组大小估计方法及基因组大小测量系统 |
| KR20210014111A (ko) | 2018-05-03 | 2021-02-08 | 더 차이니즈 유니버시티 오브 홍콩 | 세포-무함유 혼합물의 특성을 측정하기 위한 크기-태깅된 바람직한 말단 및 배향-인지 분석 |
| WO2020192680A1 (en) | 2019-03-25 | 2020-10-01 | The Chinese University Of Hong Kong | Determining linear and circular forms of circulating nucleic acids |
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| BR112022015073A2 (pt) | 2020-02-05 | 2022-11-16 | Univ Hong Kong Chinese | Método de análise de uma amostra biológica, produto de programa de computador, mídia de armazenamento, e, sistema de computação |
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| GB0016742D0 (en) * | 2000-07-10 | 2000-08-30 | Simeg Limited | Diagnostic method |
| US6664056B2 (en) * | 2000-10-17 | 2003-12-16 | The Chinese University Of Hong Kong | Non-invasive prenatal monitoring |
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| LT2557517T (lt) | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| US20090053719A1 (en) | 2007-08-03 | 2009-02-26 | The Chinese University Of Hong Kong | Analysis of nucleic acids by digital pcr |
| WO2010053980A2 (en) | 2008-11-04 | 2010-05-14 | The Johns Hopkins University | Dna integrity assay (dia) for cancer diagnostics, using confocal fluorescence spectroscopy |
| SG174401A1 (en) | 2009-03-31 | 2011-11-28 | Oridis Biomarkers Gmbh | Method for diagnosis of cancer and monitoring of cancer treatments |
| WO2011053790A2 (en) | 2009-10-30 | 2011-05-05 | Fluidigm Corporation | Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis |
| EA034241B1 (ru) * | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
| ES2534758T3 (es) | 2010-01-19 | 2015-04-28 | Verinata Health, Inc. | Métodos de secuenciación en diagnósticos prenatales |
| CA2786564A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| WO2011103236A2 (en) | 2010-02-18 | 2011-08-25 | The Johns Hopkins University | Personalized tumor biomarkers |
| 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 |
-
2010
- 2010-11-05 EA EA201200701A patent/EA034241B1/ru unknown
- 2010-11-05 MX MX2015002302A patent/MX357692B/es unknown
- 2010-11-05 MX MX2012005217A patent/MX2012005217A/es active IP Right Grant
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