EA201200701A1 - Геномный анализ на основе размеров - Google Patents
Геномный анализ на основе размеровInfo
- Publication number
- EA201200701A1 EA201200701A1 EA201200701A EA201200701A EA201200701A1 EA 201200701 A1 EA201200701 A1 EA 201200701A1 EA 201200701 A EA201200701 A EA 201200701A EA 201200701 A EA201200701 A EA 201200701A EA 201200701 A1 EA201200701 A1 EA 201200701A1
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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
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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
- C12Q1/6876—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
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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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- 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
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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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- 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
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
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- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Analytical Chemistry (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Molecular Biology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Medical Informatics (AREA)
- Theoretical Computer Science (AREA)
- General Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biochemistry (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)
Abstract
Описываются системы, способы и аппаратура для выполнения пренатальной диагностики дисбаланса последовательностей. Признаком дисбаланса в некоторых обстоятельствах может быть сдвиг (например, в сторону более узкого распределения по размерам). Например, распределение по размерам фрагментов нуклеиновых кислот из хромосомы "в группе риска" можно использовать для определения фетальной хромосомной анеуплоидии. Ранжировку по размеру различных хромосом можно использовать для определения отклонений ранжира хромосомы "в группе риска" от ожидаемой ранжировки. Также различие между статистическим показателем размеров для одной хромосомы можно сравнить со статистическим показателем размеров другой хромосомы для идентификации значимого сдвига в размере. Также можно определить генотип и гаплотип плода, используя распределение по размерам для определения того, имеет ли место дисбаланс последовательностей в материнском образце относительно генотипов или гаплотипа матери, причем посредством этого получают генотип или гаплотип плода.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US25907609P | 2009-11-06 | 2009-11-06 | |
US36039910P | 2010-06-30 | 2010-06-30 | |
PCT/EP2010/066935 WO2011054936A1 (en) | 2009-11-06 | 2010-11-05 | Size-based genomic analysis |
Publications (2)
Publication Number | Publication Date |
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EA201200701A1 true EA201200701A1 (ru) | 2012-12-28 |
EA034241B1 EA034241B1 (ru) | 2020-01-21 |
Family
ID=43530526
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EA201200701A EA034241B1 (ru) | 2009-11-06 | 2010-11-05 | Способ пренатальной диагностики дисбаланса последовательности |
Country Status (12)
Country | Link |
---|---|
US (4) | US8620593B2 (ru) |
EP (3) | EP4212630A1 (ru) |
JP (2) | JP5770737B2 (ru) |
CN (2) | CN102791881B (ru) |
AU (1) | AU2010317019B2 (ru) |
BR (1) | BR112012010708A2 (ru) |
CA (1) | CA2780016C (ru) |
EA (1) | EA034241B1 (ru) |
IL (1) | IL219545A (ru) |
MX (2) | MX2012005217A (ru) |
TW (1) | TWI445854B (ru) |
WO (1) | WO2011054936A1 (ru) |
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2010
- 2010-11-05 JP JP2012537410A patent/JP5770737B2/ja active Active
- 2010-11-05 CN CN201080059269.7A patent/CN102791881B/zh active Active
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IL219545A0 (en) | 2012-06-28 |
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TW201129736A (en) | 2011-09-01 |
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WO2011054936A1 (en) | 2011-05-12 |
CN102791881B (zh) | 2017-08-08 |
US20180237858A1 (en) | 2018-08-23 |
AU2010317019B2 (en) | 2014-10-30 |
EP3406737A1 (en) | 2018-11-28 |
CN107312844A (zh) | 2017-11-03 |
EP2496713A1 (en) | 2012-09-12 |
JP6001721B2 (ja) | 2016-10-05 |
BR112012010708A2 (pt) | 2016-03-29 |
CA2780016A1 (en) | 2011-05-12 |
JP5770737B2 (ja) | 2015-08-26 |
MX2012005217A (es) | 2012-07-23 |
IL219545A (en) | 2015-02-26 |
CN107312844B (zh) | 2021-01-22 |
US9982300B2 (en) | 2018-05-29 |
CA2780016C (en) | 2017-09-19 |
TWI445854B (zh) | 2014-07-21 |
CN102791881A (zh) | 2012-11-21 |
US11365448B2 (en) | 2022-06-21 |
JP2015165805A (ja) | 2015-09-24 |
JP2013509870A (ja) | 2013-03-21 |
US20220282332A1 (en) | 2022-09-08 |
AU2010317019A1 (en) | 2012-05-31 |
US8620593B2 (en) | 2013-12-31 |
US20110276277A1 (en) | 2011-11-10 |
EA034241B1 (ru) | 2020-01-21 |
US20140080720A1 (en) | 2014-03-20 |
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