JP6659672B2 - 胎児染色体部分異数性およびコピー数変動の検出 - Google Patents
胎児染色体部分異数性およびコピー数変動の検出 Download PDFInfo
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- JP6659672B2 JP6659672B2 JP2017515036A JP2017515036A JP6659672B2 JP 6659672 B2 JP6659672 B2 JP 6659672B2 JP 2017515036 A JP2017515036 A JP 2017515036A JP 2017515036 A JP2017515036 A JP 2017515036A JP 6659672 B2 JP6659672 B2 JP 6659672B2
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- 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
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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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
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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
- 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
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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
- G16B30/10—Sequence alignment; Homology search
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- 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
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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
- 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
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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
- 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
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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
- 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
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- Proteomics, Peptides & Aminoacids (AREA)
- General Health & Medical Sciences (AREA)
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- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Immunology (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)
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Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201462005877P | 2014-05-30 | 2014-05-30 | |
| US62/005,877 | 2014-05-30 | ||
| PCT/US2015/033403 WO2015184404A1 (en) | 2014-05-30 | 2015-05-29 | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2017524374A JP2017524374A (ja) | 2017-08-31 |
| JP2017524374A5 JP2017524374A5 (enExample) | 2018-07-05 |
| JP6659672B2 true JP6659672B2 (ja) | 2020-03-04 |
Family
ID=53373661
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2017515036A Expired - Fee Related JP6659672B2 (ja) | 2014-05-30 | 2015-05-29 | 胎児染色体部分異数性およびコピー数変動の検出 |
Country Status (10)
| Country | Link |
|---|---|
| US (2) | US10318704B2 (enExample) |
| EP (2) | EP3690061B1 (enExample) |
| JP (1) | JP6659672B2 (enExample) |
| KR (1) | KR102566176B1 (enExample) |
| CN (1) | CN106795558B (enExample) |
| AU (1) | AU2015266665C1 (enExample) |
| BR (1) | BR112016027848A2 (enExample) |
| CA (1) | CA2950596C (enExample) |
| IL (1) | IL249095B2 (enExample) |
| WO (1) | WO2015184404A1 (enExample) |
Families Citing this family (44)
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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 |
| KR102373647B1 (ko) | 2013-10-21 | 2022-03-11 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| US10318704B2 (en) | 2014-05-30 | 2019-06-11 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies |
| WO2016015058A2 (en) * | 2014-07-25 | 2016-01-28 | University Of Washington | Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same |
| EP3567120B1 (en) * | 2014-12-12 | 2020-08-19 | Verinata Health, Inc. | Using cell-free dna fragment size to determine copy number variations |
| US10364467B2 (en) * | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
| 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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-
2015
- 2015-05-29 US US14/726,183 patent/US10318704B2/en active Active
- 2015-05-29 JP JP2017515036A patent/JP6659672B2/ja not_active Expired - Fee Related
- 2015-05-29 EP EP20164915.9A patent/EP3690061B1/en active Active
- 2015-05-29 CA CA2950596A patent/CA2950596C/en active Active
- 2015-05-29 EP EP15728356.5A patent/EP3149199B1/en active Active
- 2015-05-29 BR BR112016027848A patent/BR112016027848A2/pt not_active IP Right Cessation
- 2015-05-29 WO PCT/US2015/033403 patent/WO2015184404A1/en not_active Ceased
- 2015-05-29 CN CN201580041925.3A patent/CN106795558B/zh not_active Expired - Fee Related
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| AU2015266665A1 (en) | 2016-12-22 |
| JP2017524374A (ja) | 2017-08-31 |
| CA2950596A1 (en) | 2015-12-03 |
| CN106795558B (zh) | 2020-07-10 |
| AU2015266665C1 (en) | 2021-12-23 |
| IL249095B1 (en) | 2023-06-01 |
| US20190318805A1 (en) | 2019-10-17 |
| KR102566176B1 (ko) | 2023-08-10 |
| US10318704B2 (en) | 2019-06-11 |
| CA2950596C (en) | 2023-10-31 |
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