MX357692B - Analisis genomico a base de tamaño. - Google Patents

Analisis genomico a base de tamaño.

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Publication number
MX357692B
MX357692B MX2015002302A MX2015002302A MX357692B MX 357692 B MX357692 B MX 357692B MX 2015002302 A MX2015002302 A MX 2015002302A MX 2015002302 A MX2015002302 A MX 2015002302A MX 357692 B MX357692 B MX 357692B
Authority
MX
Mexico
Prior art keywords
size
chromosome
haplotype
size distribution
fetus
Prior art date
Application number
MX2015002302A
Other languages
English (en)
Inventor
Kwan Chee Chan
Yuk Ming Dennis Lo
Wenli Zheng
Wai Kwun Rossa Chiu
Original Assignee
Univ Hong Kong Chinese
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ Hong Kong Chinese filed Critical Univ Hong Kong Chinese
Publication of MX357692B publication Critical patent/MX357692B/es

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Classifications

    • 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
    • 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
    • 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
    • G16B20/10—Ploidy or copy number 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
    • 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
    • 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

Abstract

La presente invención se refiere a sistemas, métodos y aparatos para efectuar un diagnóstico 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.
MX2015002302A 2009-11-06 2010-11-05 Analisis genomico a base de tamaño. MX357692B (es)

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
MX357692B true MX357692B (es) 2018-07-19

Family

ID=43530526

Family Applications (2)

Application Number Title Priority Date Filing Date
MX2015002302A MX357692B (es) 2009-11-06 2010-11-05 Analisis genomico a base de tamaño.
MX2012005217A MX2012005217A (es) 2009-11-06 2010-11-05 Analisis genomico a base de tamaño.

Family Applications After (1)

Application Number Title Priority Date Filing Date
MX2012005217A MX2012005217A (es) 2009-11-06 2010-11-05 Analisis genomico a base de tamaño.

Country Status (12)

Country Link
US (4) US8620593B2 (es)
EP (3) EP3406737B1 (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) MX357692B (es)
TW (1) TWI445854B (es)
WO (1) WO2011054936A1 (es)

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Publication number Publication date
CN102791881B (zh) 2017-08-08
AU2010317019A1 (en) 2012-05-31
US20110276277A1 (en) 2011-11-10
EP4212630A1 (en) 2023-07-19
JP2015165805A (ja) 2015-09-24
CN107312844B (zh) 2021-01-22
US20140080720A1 (en) 2014-03-20
TWI445854B (zh) 2014-07-21
TW201129736A (en) 2011-09-01
BR112012010708A2 (pt) 2016-03-29
WO2011054936A1 (en) 2011-05-12
US20220282332A1 (en) 2022-09-08
CN107312844A (zh) 2017-11-03
CA2780016C (en) 2017-09-19
EP2496713A1 (en) 2012-09-12
US20180237858A1 (en) 2018-08-23
CN102791881A (zh) 2012-11-21
IL219545A (en) 2015-02-26
US9982300B2 (en) 2018-05-29
US8620593B2 (en) 2013-12-31
EA201200701A1 (ru) 2012-12-28
MX2012005217A (es) 2012-07-23
JP5770737B2 (ja) 2015-08-26
EP3406737B1 (en) 2023-05-31
CA2780016A1 (en) 2011-05-12
JP6001721B2 (ja) 2016-10-05
EP2496713B1 (en) 2018-07-18
IL219545A0 (en) 2012-06-28
AU2010317019B2 (en) 2014-10-30
US11365448B2 (en) 2022-06-21
EP3406737A1 (en) 2018-11-28
JP2013509870A (ja) 2013-03-21
EA034241B1 (ru) 2020-01-21

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