BR112012010708A2 - método para realizar diagnóstico pré-natal, e, produto de programa de computador - Google Patents
método para realizar diagnóstico pré-natal, e, produto de programa de computadorInfo
- Publication number
- BR112012010708A2 BR112012010708A2 BR112012010708A BR112012010708A BR112012010708A2 BR 112012010708 A2 BR112012010708 A2 BR 112012010708A2 BR 112012010708 A BR112012010708 A BR 112012010708A BR 112012010708 A BR112012010708 A BR 112012010708A BR 112012010708 A2 BR112012010708 A2 BR 112012010708A2
- Authority
- BR
- Brazil
- Prior art keywords
- chromosome
- size
- prenatal diagnosis
- haplotype
- computer program
- 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
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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
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
método para realizar diagnóstico pré-natal, e, produto de programa de computador. sistemas, métodos e aparelhos para a realização de um diagnóstico pré-natal de um desequilibrio de sequência são fornecidos. uma mudança (por exemplo,para uma distribuição de tamanho menor) pode significar um desequilibrio em certas circustâncias. por exemplo, uma distribuição de tamanho dos fragmentos de ácidos nucleicos a partir de um cromossomo em risco pode ser usada para determinar uma aneuploidia cromossômica fetal. uma classificação de tamanho de cromossomos diferentes pode ser usada para determinar mudanças de uma classificação de um cromossomo em risco a partir de uma classificação esperada. também, uma diferença entre um valor de tamanho estático para um cromossomo pode ser comparada com um valor de tamanho estático de outro cromossomo para identificar uma mudança significativa no tamanho. um genótipo e haplótipo do feto podem também ser determinados utilizando uma distribuição de tamanho para determinar se um desequilíbrio de sequência ocorre em uma amostra materna relativa a um genótipo ou haplótipo da mãe, proporcionando assim um genótipo ou haplótipo do 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 |
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BR112012010708A2 true BR112012010708A2 (pt) | 2016-03-29 |
Family
ID=43530526
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
BR112012010708A BR112012010708A2 (pt) | 2009-11-06 | 2010-11-05 | método para realizar diagnóstico pré-natal, e, produto de programa de computador |
Country Status (12)
Country | Link |
---|---|
US (4) | US8620593B2 (pt) |
EP (3) | EP4212630A1 (pt) |
JP (2) | JP5770737B2 (pt) |
CN (2) | CN102791881B (pt) |
AU (1) | AU2010317019B2 (pt) |
BR (1) | BR112012010708A2 (pt) |
CA (1) | CA2780016C (pt) |
EA (1) | EA034241B1 (pt) |
IL (1) | IL219545A (pt) |
MX (2) | MX2012005217A (pt) |
TW (1) | TWI445854B (pt) |
WO (1) | WO2011054936A1 (pt) |
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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
- 2010-11-05 US US12/940,992 patent/US8620593B2/en active Active
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CA2780016A1 (en) | 2011-05-12 |
EA201200701A1 (ru) | 2012-12-28 |
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 |
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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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