MX2012005217A - Analisis genomico a base de tamaño. - Google Patents
Analisis genomico a base de tamaño.Info
- Publication number
- MX2012005217A MX2012005217A MX2012005217A MX2012005217A MX2012005217A MX 2012005217 A MX2012005217 A MX 2012005217A MX 2012005217 A MX2012005217 A MX 2012005217A MX 2012005217 A MX2012005217 A MX 2012005217A MX 2012005217 A MX2012005217 A MX 2012005217A
- Authority
- MX
- Mexico
- Prior art keywords
- size
- chromosome
- haplotype
- size distribution
- fetus
- Prior art date
Links
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
- C12Q1/6876—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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- 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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- 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
-
- 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)
- 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
Se proveen sistemas, métodos y aparatos para efectuar un diagnostico prenatal de un desequilibrio de secuencia. Un desplazamiento (por ejemplo, a una distribución de tamaño más pequeña) puede significar un desequilibrio en ciertas circunstancias. Por ejemplo, se puede usar una distribución de tamaño de fragmentos de ácidos nucleicos de un cromosoma en alto riesgo para determinar una aneuploidia cromosomal fetal. Se puede usar una clasificación de tamaño de diferentes cromosomas para determinar intervalos de una clasificación de un cromosoma en alto riesgo a partir de una clasificación esperada. También, una diferencia entre un valor de tamaño estadístico para un cromosoma puede ser comparada con un valor de tamaño estadístico de otro cromosoma para identificar un desplazamiento significativo de tamaño. Un genotipo y haplotipo del feto pueden también ser determinados usando una distribución de tamaño para determinar si se presenta un desequilibrio de secuencia en una muestra materna, en relación con un genotipo o haplotipo de la madre, proporcionando mediante esto un genotipo o haplotipo del feto.
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 (1)
Publication Number | Publication Date |
---|---|
MX2012005217A true MX2012005217A (es) | 2012-07-23 |
Family
ID=43530526
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2012005217A MX2012005217A (es) | 2009-11-06 | 2010-11-05 | Analisis genomico a base de tamaño. |
MX2015002302A MX357692B (es) | 2009-11-06 | 2010-11-05 | Analisis genomico a base de tamaño. |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2015002302A MX357692B (es) | 2009-11-06 | 2010-11-05 | Analisis genomico a base de tamaño. |
Country Status (12)
Country | Link |
---|---|
US (4) | US8620593B2 (es) |
EP (3) | EP4212630A1 (es) |
JP (2) | JP5770737B2 (es) |
CN (2) | CN102791881B (es) |
AU (1) | AU2010317019B2 (es) |
BR (1) | BR112012010708A2 (es) |
CA (1) | CA2780016C (es) |
EA (1) | EA034241B1 (es) |
IL (1) | IL219545A (es) |
MX (2) | MX2012005217A (es) |
TW (1) | TWI445854B (es) |
WO (1) | WO2011054936A1 (es) |
Families Citing this family (74)
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PL2557520T3 (pl) * | 2007-07-23 | 2021-10-11 | The Chinese University Of Hong Kong | Określanie zaburzenia równowagi sekwencji kwasu nukleinowego |
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HUE061110T2 (hu) | 2009-11-05 | 2023-05-28 | Univ Hong Kong Chinese | Magzati genomelemzés anyai biológiai mintából |
JP5770737B2 (ja) * | 2009-11-06 | 2015-08-26 | ザ チャイニーズ ユニバーシティ オブ ホンコン | サイズに基づくゲノム分析 |
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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
- 2010-11-05 BR BR112012010708A patent/BR112012010708A2/pt not_active Application Discontinuation
- 2010-11-05 CA CA2780016A patent/CA2780016C/en active Active
- 2010-11-05 AU AU2010317019A patent/AU2010317019B2/en active Active
- 2010-11-05 WO PCT/EP2010/066935 patent/WO2011054936A1/en active Application Filing
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AU2010317019B2 (en) | 2014-10-30 |
EP3406737A1 (en) | 2018-11-28 |
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BR112012010708A2 (pt) | 2016-03-29 |
CA2780016A1 (en) | 2011-05-12 |
EA201200701A1 (ru) | 2012-12-28 |
JP5770737B2 (ja) | 2015-08-26 |
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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