MX367963B - Métodos para detectar mutaciones raras y variación en el número de copias. - Google Patents
Métodos para detectar mutaciones raras y variación en el número de copias.Info
- Publication number
- MX367963B MX367963B MX2015002769A MX2015002769A MX367963B MX 367963 B MX367963 B MX 367963B MX 2015002769 A MX2015002769 A MX 2015002769A MX 2015002769 A MX2015002769 A MX 2015002769A MX 367963 B MX367963 B MX 367963B
- Authority
- MX
- Mexico
- Prior art keywords
- copy number
- rare mutations
- systems
- methods
- number variation
- Prior art date
Links
- 238000000034 method Methods 0.000 title abstract 5
- 230000035772 mutation Effects 0.000 title abstract 5
- 102000040430 polynucleotide Human genes 0.000 abstract 3
- 108091033319 polynucleotide Proteins 0.000 abstract 3
- 239000002157 polynucleotide Substances 0.000 abstract 3
- 238000001514 detection method Methods 0.000 abstract 2
- 201000010099 disease Diseases 0.000 abstract 2
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 abstract 2
- 210000001124 body fluid Anatomy 0.000 abstract 1
- 238000000605 extraction Methods 0.000 abstract 1
- 230000002068 genetic effect Effects 0.000 abstract 1
- 238000002955 isolation Methods 0.000 abstract 1
- 238000002360 preparation method Methods 0.000 abstract 1
- 238000012163 sequencing technique Methods 0.000 abstract 1
Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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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
- C12Q1/6869—Methods for sequencing
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- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
- C12N15/1034—Isolating an individual clone by screening libraries
- C12N15/1065—Preparation or screening of tagged libraries, e.g. tagged microorganisms by STM-mutagenesis, tagged polynucleotides, gene tags
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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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
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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
- C12Q1/6869—Methods for sequencing
- C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
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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
- C12Q1/6876—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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- 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
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
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- G—PHYSICS
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- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
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- 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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- C12Q2545/00—Reactions characterised by their quantitative nature
- C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
- C12Q2545/114—Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/118—Prognosis of disease development
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/158—Expression markers
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/16—Primer sets for multiplex assays
Abstract
La presente invención se refiere a proporciona un sistema y método para la detección de mutaciones raras y variaciones en el número de copias en polinucleótidos libres de células. En general, los sistemas y métodos comprenden la preparación de la muestra, o la extracción y aislamiento de secuencias de polinucleótidos libres de células a partir de un fluido corporal; la subsecuente secuenciación de polinucleótidos libres de células por técnicas conocidas en la técnica; y la aplicación de herramientas bioinformáticas para detectar mutaciones raras y variaciones en el número de copias en comparación con una referencia. Los sistemas y métodos pueden contener una base de datos o colección de diferentes mutaciones o perfiles de variación en el número de copias de diferentes enfermedades, que se van a usar como referencias adicionales al ayudar en la detección de mutaciones raras, perfil de la variación en el número de copias o perfil genético general de una enfermedad.
Applications Claiming Priority (5)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201261696734P | 2012-09-04 | 2012-09-04 | |
US201261704400P | 2012-09-21 | 2012-09-21 | |
US201361793997P | 2013-03-15 | 2013-03-15 | |
US201361845987P | 2013-07-13 | 2013-07-13 | |
PCT/US2013/058061 WO2014039556A1 (en) | 2012-09-04 | 2013-09-04 | Systems and methods to detect rare mutations and copy number variation |
Publications (2)
Publication Number | Publication Date |
---|---|
MX2015002769A MX2015002769A (es) | 2015-08-14 |
MX367963B true MX367963B (es) | 2019-09-11 |
Family
ID=50237580
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2015002769A MX367963B (es) | 2012-09-04 | 2013-09-04 | Métodos para detectar mutaciones raras y variación en el número de copias. |
Country Status (18)
Country | Link |
---|---|
US (25) | US10041127B2 (es) |
EP (5) | EP3591073B1 (es) |
JP (5) | JP6275145B2 (es) |
KR (5) | KR20240007774A (es) |
CN (2) | CN110872617A (es) |
BR (1) | BR112015004847A2 (es) |
CA (2) | CA3190199A1 (es) |
DE (1) | DE202013012824U1 (es) |
DK (1) | DK2893040T5 (es) |
ES (3) | ES2711635T3 (es) |
GB (1) | GB2533006B (es) |
HK (3) | HK1201080A1 (es) |
IL (3) | IL305303A (es) |
MX (1) | MX367963B (es) |
PL (2) | PL3591073T3 (es) |
PT (1) | PT2893040T (es) |
SG (2) | SG11201501662TA (es) |
WO (1) | WO2014039556A1 (es) |
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