BR112016027848A2 - Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesse - Google Patents
Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesseInfo
- Publication number
- BR112016027848A2 BR112016027848A2 BR112016027848A BR112016027848A BR112016027848A2 BR 112016027848 A2 BR112016027848 A2 BR 112016027848A2 BR 112016027848 A BR112016027848 A BR 112016027848A BR 112016027848 A BR112016027848 A BR 112016027848A BR 112016027848 A2 BR112016027848 A2 BR 112016027848A2
- Authority
- BR
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- Prior art keywords
- interest
- cnv
- sequence
- copies
- evaluation
- Prior art date
Links
Classifications
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- 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
-
- 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
-
- 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
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- 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
- C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
- C12Q2535/122—Massive parallel 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
- C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
- C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
- C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
-
- 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
- C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
- C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
- C12Q2537/165—Mathematical modelling, e.g. logarithm, ratio
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Physics & Mathematics (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Molecular Biology (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- General Engineering & Computer Science (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
- Measurement And Recording Of Electrical Phenomena And Electrical Characteristics Of The Living Body (AREA)
- Ultra Sonic Daignosis Equipment (AREA)
- Algebra (AREA)
- General Physics & Mathematics (AREA)
- Mathematical Analysis (AREA)
- Mathematical Optimization (AREA)
- Mathematical Physics (AREA)
- Pure & Applied Mathematics (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462005877P | 2014-05-30 | 2014-05-30 | |
| PCT/US2015/033403 WO2015184404A1 (en) | 2014-05-30 | 2015-05-29 | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| BR112016027848A2 true BR112016027848A2 (pt) | 2017-08-22 |
Family
ID=53373661
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| BR112016027848A BR112016027848A2 (pt) | 2014-05-30 | 2015-05-29 | Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesse |
Country Status (10)
| Country | Link |
|---|---|
| US (2) | US10318704B2 (https=) |
| EP (2) | EP3149199B1 (https=) |
| JP (1) | JP6659672B2 (https=) |
| KR (1) | KR102566176B1 (https=) |
| CN (1) | CN106795558B (https=) |
| AU (1) | AU2015266665C1 (https=) |
| BR (1) | BR112016027848A2 (https=) |
| CA (1) | CA2950596C (https=) |
| IL (1) | IL249095B2 (https=) |
| WO (1) | WO2015184404A1 (https=) |
Families Citing this family (47)
| Publication number | Priority date | Publication date | Assignee | Title |
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| GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
| 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 |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| CA2950596C (en) | 2014-05-30 | 2023-10-31 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| 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 |
| EP3502273B1 (en) * | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| 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 |
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| BE1023266B1 (nl) * | 2015-07-13 | 2017-01-17 | Cartagenia N.V. | Systeem en methodologie voor de analyse van genomische gegevens die zijn verkregen van een onderwerp |
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| EP3669369A1 (en) * | 2017-08-18 | 2020-06-24 | Koninklijke Philips N.V. | Methods for sequencing biomolecules |
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| 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 |
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-
2015
- 2015-05-29 CA CA2950596A patent/CA2950596C/en active Active
- 2015-05-29 BR BR112016027848A patent/BR112016027848A2/pt not_active IP Right Cessation
- 2015-05-29 JP JP2017515036A patent/JP6659672B2/ja not_active Expired - Fee Related
- 2015-05-29 CN CN201580041925.3A patent/CN106795558B/zh not_active Expired - Fee Related
- 2015-05-29 AU AU2015266665A patent/AU2015266665C1/en not_active Ceased
- 2015-05-29 WO PCT/US2015/033403 patent/WO2015184404A1/en not_active Ceased
- 2015-05-29 IL IL249095A patent/IL249095B2/en unknown
- 2015-05-29 KR KR1020167036900A patent/KR102566176B1/ko active Active
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2019
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|---|---|
| IL249095A0 (en) | 2017-01-31 |
| KR20170016393A (ko) | 2017-02-13 |
| IL249095B2 (en) | 2023-10-01 |
| US20190318805A1 (en) | 2019-10-17 |
| KR102566176B1 (ko) | 2023-08-10 |
| EP3149199B1 (en) | 2020-03-25 |
| EP3149199A1 (en) | 2017-04-05 |
| AU2015266665C1 (en) | 2021-12-23 |
| US20160019338A1 (en) | 2016-01-21 |
| CN106795558A (zh) | 2017-05-31 |
| WO2015184404A1 (en) | 2015-12-03 |
| JP6659672B2 (ja) | 2020-03-04 |
| IL249095B1 (en) | 2023-06-01 |
| US12217827B2 (en) | 2025-02-04 |
| AU2015266665B2 (en) | 2021-08-19 |
| JP2017524374A (ja) | 2017-08-31 |
| CA2950596C (en) | 2023-10-31 |
| CA2950596A1 (en) | 2015-12-03 |
| AU2015266665A1 (en) | 2016-12-22 |
| CN106795558B (zh) | 2020-07-10 |
| US10318704B2 (en) | 2019-06-11 |
| EP3690061A1 (en) | 2020-08-05 |
| EP3690061B1 (en) | 2025-01-01 |
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