DK2183693T4 - Diagnosticering af føtal kromosomal aneuploidi ved anvendelse af genomsekventering - Google Patents
Diagnosticering af føtal kromosomal aneuploidi ved anvendelse af genomsekventering Download PDFInfo
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- DK2183693T4 DK2183693T4 DK08776043.5T DK08776043T DK2183693T4 DK 2183693 T4 DK2183693 T4 DK 2183693T4 DK 08776043 T DK08776043 T DK 08776043T DK 2183693 T4 DK2183693 T4 DK 2183693T4
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- C12Q1/6869—Methods for sequencing
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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
- C12Q1/6888—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
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- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- G—PHYSICS
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- 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
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- 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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- 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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/112—Disease subtyping, staging or classification
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/154—Methylation markers
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- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/38—Pediatrics
- G01N2800/385—Congenital anomalies
- G01N2800/387—Down syndrome; Trisomy 18; Trisomy 13
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- Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
- Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
- Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
- Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
- Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation
Claims (21)
1. Fremgangsmåde til gennemførelse af prænatal diagnose af en føtal kromosomal aneuploidi i en biologisk prøve tilvejebragt fra et hunligt subjekt, der er gravid med et foster, hvor den biologiske prøve er maternelt plasma eller serum, og hvor prøven omfatter cellefri nucleinsyremolekylerfra det hunlige subjekt og fosteret, hvilken fremgangsmåde omfatter: gennemførelse af en random sekventering på mindst en del af en flerhed af nucleinsyremolekylerne indeholdt i den biologiske prøve for at tilvejebringe et forud bestemt antal sekvenser, hvor sekvenserne repræsenterer en fraktion af det humane genom; aligment, med et computersystem, af hver sekvens med et humant genom; bestemmelse af en første mængde af sekvenser, der identificeres som værende alignet med et første kromosom; bestemmelse af en anden mængde af sekvenser, der identificeres som værende alignet med ét eller flere andre kromosomer; bestemmelse afen parameter fra den første mængde og den anden mængde; hvor parameteren repræsenterer en relativ mængde mellem den første og den anden mængde; og sammenligning af parameteren med én eller flere cut-off-værdier for at bestemme en klassifikation af, om en føtal kromosomal aneuploidi eksisterer for det første kromosom.
2. Fremgangsmåde ifølge krav 1, hvor det første kromosom er kromosom 21, kromosom 18, kromosom 13, kromosom X eller kromosom Y.
3. Fremgangsmåde ifølge krav 1, hvor parameteren bestemmes fra et forhold af den første mængde og den anden mængde.
4. Fremgangsmåde ifølge krav 3, hvor forholdet er en fraktionstælling af antallet af sekvenser, et fraktionstal af sekventerede nucleotider eller en fraktionslængde af akkumulerede sekvenser.
5. Fremgangsmåde ifølge krav 3, hvor sekvenserne, der aligner med det første kromosom, er valgt til at være mindre end et specificeret antal basepar.
6. Fremgangsmåde ifølge krav 5, hvor det specificerede antal basepar er 300 bp, 200 bp eller 100 bp.
7. Fremgangsmåde ifølge krav 1, hvor nucleinsyremolekylerne af den biologiske prøve er blevet beriget for sekvenser stammende fra mindst ét bestemt kromosom.
8. Fremgangsmåde ifølge krav 1, hvor nucleinsyremolekylerne af den biologiske prøve er blevet beriget for sekvenser mindre end 300 bp.
9. Fremgangsmåde ifølge krav 1, hvor nucleinsyremolekylerne af den biologiske prøve er blevet beriget for sekvenser mindre end 200 bp.
10. Fremgangsmåde ifølge krav 1, hvor nucleinsyremolekylerne af den biologiske prøve er blevet amplificeret ved anvendelse af en polymerasekædere-aktion.
11. Fremgangsmåde ifølge krav 1, hvor de tilvejebragte sekvenser repræsenterer mindst en forud bestemt fraktion af det humane genom.
12. Fremgangsmåde ifølge krav 11, hvor fraktionen repræsenterer mindst 0,1 % af det humane genom.
13. Fremgangsmåde ifølge krav 11, hvor fraktionen repræsenterer mindst 0,5% af det humane genom.
14. Fremgangsmåde ifølge krav 1, hvor mindst én af cutoff-værdierne er afhængige af fraktionskoncentrationen af føtalt DNA i den biologiske prøve.
15. Fremgangsmåde ifølge krav 14, hvor fraktionskoncentrationen af føtalt DNA i den biologiske prøve bestemmes ved en hvilken som helst eller flere af en andel af Y-kromosomsekvenser, en føtal epigenetisk markør eller ved anvendelse af enkelt-nucleotidpolymorfisme-analyse.
16. Fremgangsmåde ifølge krav 1, hvor en cut-off-værdi er en referenceværdi, der er etableret fra én eller flere normale biologiske prøver.
17. Fremgangsmåde ifølge krav 1, yderligere omfattende: identifikation af en mængde føtalt DNA i den biologiske prøve; og beregning af antallet af sekvenser, der skal tilvejebringes, på basis af en ønsket nøjagtighed og mængden af føtalt DNA i den biologiske prøve.
18. Computerprogramprodukt omfattende et computerlæsbart medium kodet med en flerhed af instruktioner til kontrol af et databehandlingssystem til gennemførelse af en operation til gennemførelse af prænatal diagnose, af en føtal kromosomal aneuploidi i en biologisk prøve tilvejebragt fra et hunligt subjekt, der er gravid med et foster, hvilken biologisk prøve er maternelt plasma eller serum, og hvor prøven omfatter cellefri nucleinsyremolekyler fra det hunlige subjekt og fosteret; hvilken operation omfatter trinnene: modtagelse af mindst et bestemt antal sekvenser fra en random sekventering på mindst en del af en flerhed af nucleinsyremolekylerne indeholdt i den biologiske prøve, og hvor sekvenserne repræsenterer en fraktion af det humane genom; alignment af hver sekvens med et humant genom; bestemmelse afen første mængde sekvenser, der identificeres som værende alignet med et første kromosom; bestemmelse afen anden mængde sekvenser, der identificeres som værende alignet med ét eller flere andre kromosomer; bestemmelse afen parameter fra den første mængde og den anden mængde; hvor parameteren repræsenterer en relativ mængde mellem den første og den anden mængde; sammenligning af parameteren med én eller flere cut-off-værdier; og baseret på sammenligningen bestemmelse afen klassifikation af, om en føtal kromosomal aneuploidi eksisterer for det første kromosom.
19. Fremgangsmåde ifølge krav 1 yderligere omfattende: beregning af antallet af nucleinsyremolekyler, der skal sekventeres, baseret på en ønsket nøjagtighed.
20. Fremgangsmåde ifølge krav 19, hvor den ønskede nøjagtighed er mindst 95%.
21. Fremgangsmåde ifølge krav 1, hvor det bestemte antal sekvenser til differentiering mellem trisomi 21 og euploide tilfælde er mindst 120.000, når den biologiske prøve har 20% eller mere føtalt DNA, mindst 180.000, når den biologiske prøve har 10% eller mere føtalt DNA, eller mindst 540.000, når den biologiske prøve har 5% eller mere føtalt DNA.
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US95143807P | 2007-07-23 | 2007-07-23 | |
PCT/GB2008/002530 WO2009013496A1 (en) | 2007-07-23 | 2008-07-23 | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
Publications (3)
Publication Number | Publication Date |
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DK2183693T3 DK2183693T3 (da) | 2014-01-20 |
DK2183693T4 true DK2183693T4 (da) | 2019-02-11 |
DK2183693T5 DK2183693T5 (da) | 2019-02-18 |
Family
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Family Applications (6)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DK12180133.6T DK2557519T3 (da) | 2007-07-23 | 2008-07-23 | Bestemmelse af et fosters genotype |
DK12173422.2T DK2527471T3 (da) | 2007-07-23 | 2008-07-23 | Diagnosticering af cancer ved anvendelse af genomsekvensering |
DK12180138.5T DK2557520T3 (da) | 2007-07-23 | 2008-07-23 | Bestemmelse af en nukleinsyresekvensubalance |
DK08776043.5T DK2183693T5 (da) | 2007-07-23 | 2008-07-23 | Diagnosticering af føtal kromosomal aneuploidi ved anvendelse af genomsekventering |
DK12175754.6T DK2514842T3 (da) | 2007-07-23 | 2008-07-23 | Diagnosticering af føtal kromosomal aneuploidi ved anvendelse af genomsekventering |
DK12180122.9T DK2557517T3 (da) | 2007-07-23 | 2008-07-23 | Bestemmelse af ubalance i nukleinsyresekvens |
Family Applications Before (3)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DK12180133.6T DK2557519T3 (da) | 2007-07-23 | 2008-07-23 | Bestemmelse af et fosters genotype |
DK12173422.2T DK2527471T3 (da) | 2007-07-23 | 2008-07-23 | Diagnosticering af cancer ved anvendelse af genomsekvensering |
DK12180138.5T DK2557520T3 (da) | 2007-07-23 | 2008-07-23 | Bestemmelse af en nukleinsyresekvensubalance |
Family Applications After (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DK12175754.6T DK2514842T3 (da) | 2007-07-23 | 2008-07-23 | Diagnosticering af føtal kromosomal aneuploidi ved anvendelse af genomsekventering |
DK12180122.9T DK2557517T3 (da) | 2007-07-23 | 2008-07-23 | Bestemmelse af ubalance i nukleinsyresekvens |
Country Status (26)
Country | Link |
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US (10) | US8706422B2 (da) |
EP (15) | EP3540739A1 (da) |
JP (16) | JP5736170B2 (da) |
KR (23) | KR101916456B1 (da) |
CN (11) | CN106834481A (da) |
AU (1) | AU2008278839B2 (da) |
BR (1) | BRPI0814670B8 (da) |
CA (10) | CA3029497C (da) |
CY (3) | CY1114773T1 (da) |
DK (6) | DK2557519T3 (da) |
EA (6) | EA202192446A1 (da) |
ES (6) | ES2933486T3 (da) |
FI (1) | FI2557517T3 (da) |
HK (5) | HK1144024A1 (da) |
HR (4) | HRP20230033T3 (da) |
HU (3) | HUE061020T2 (da) |
IL (2) | IL203311A (da) |
LT (2) | LT2557517T (da) |
MX (3) | MX2010000846A (da) |
NZ (2) | NZ600407A (da) |
PL (4) | PL2514842T3 (da) |
PT (3) | PT2557517T (da) |
SG (1) | SG183062A1 (da) |
SI (4) | SI2183693T2 (da) |
WO (2) | WO2009013496A1 (da) |
ZA (1) | ZA201000524B (da) |
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