DK2729580T3 - Sekvensbaseret genotypebestemmelse baseret på oligonukleotidligeringsassays - Google Patents
Sekvensbaseret genotypebestemmelse baseret på oligonukleotidligeringsassays Download PDFInfo
- Publication number
- DK2729580T3 DK2729580T3 DK12738652.2T DK12738652T DK2729580T3 DK 2729580 T3 DK2729580 T3 DK 2729580T3 DK 12738652 T DK12738652 T DK 12738652T DK 2729580 T3 DK2729580 T3 DK 2729580T3
- Authority
- DK
- Denmark
- Prior art keywords
- probes
- sequence
- target
- ligated
- sequencing
- Prior art date
Links
- 238000003205 genotyping method Methods 0.000 title claims description 10
- 239000000523 sample Substances 0.000 claims description 436
- 238000012163 sequencing technique Methods 0.000 claims description 141
- 125000003729 nucleotide group Chemical group 0.000 claims description 96
- 239000002773 nucleotide Substances 0.000 claims description 94
- 238000000034 method Methods 0.000 claims description 78
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 66
- 108700028369 Alleles Proteins 0.000 claims description 64
- 108091093088 Amplicon Proteins 0.000 claims description 64
- 230000003321 amplification Effects 0.000 claims description 64
- 108091008146 restriction endonucleases Proteins 0.000 claims description 60
- 230000000295 complement effect Effects 0.000 claims description 53
- 108091034117 Oligonucleotide Proteins 0.000 claims description 41
- 238000005516 engineering process Methods 0.000 claims description 33
- 238000003556 assay Methods 0.000 claims description 27
- 238000012165 high-throughput sequencing Methods 0.000 claims description 22
- 238000009396 hybridization Methods 0.000 claims description 17
- 150000001875 compounds Chemical class 0.000 claims description 8
- 239000000839 emulsion Substances 0.000 claims description 7
- 230000015572 biosynthetic process Effects 0.000 claims description 6
- 230000037452 priming Effects 0.000 claims description 6
- 238000003786 synthesis reaction Methods 0.000 claims description 5
- 238000003776 cleavage reaction Methods 0.000 claims description 2
- 230000007017 scission Effects 0.000 claims description 2
- 239000012472 biological sample Substances 0.000 claims 1
- 239000012634 fragment Substances 0.000 description 83
- 238000000137 annealing Methods 0.000 description 35
- 150000007523 nucleic acids Chemical class 0.000 description 34
- 102000039446 nucleic acids Human genes 0.000 description 31
- 108020004707 nucleic acids Proteins 0.000 description 31
- 239000011324 bead Substances 0.000 description 30
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 28
- 238000001514 detection method Methods 0.000 description 28
- 239000002751 oligonucleotide probe Substances 0.000 description 28
- 108020004414 DNA Proteins 0.000 description 19
- 102000053602 DNA Human genes 0.000 description 19
- 239000000047 product Substances 0.000 description 18
- 102000003960 Ligases Human genes 0.000 description 14
- 108090000364 Ligases Proteins 0.000 description 14
- 102000012410 DNA Ligases Human genes 0.000 description 13
- 108010061982 DNA Ligases Proteins 0.000 description 13
- 108091028043 Nucleic acid sequence Proteins 0.000 description 13
- JLCPHMBAVCMARE-UHFFFAOYSA-N [3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[3-[[3-[[3-[[3-[[3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-[[5-(2-amino-6-oxo-1H-purin-9-yl)-3-hydroxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(5-methyl-2,4-dioxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(6-aminopurin-9-yl)oxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-5-(4-amino-2-oxopyrimidin-1-yl)oxolan-2-yl]methyl [5-(6-aminopurin-9-yl)-2-(hydroxymethyl)oxolan-3-yl] hydrogen phosphate Polymers Cc1cn(C2CC(OP(O)(=O)OCC3OC(CC3OP(O)(=O)OCC3OC(CC3O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c3nc(N)[nH]c4=O)C(COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3COP(O)(=O)OC3CC(OC3CO)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3ccc(N)nc3=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cc(C)c(=O)[nH]c3=O)n3cc(C)c(=O)[nH]c3=O)n3ccc(N)nc3=O)n3cc(C)c(=O)[nH]c3=O)n3cnc4c3nc(N)[nH]c4=O)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)n3cnc4c(N)ncnc34)O2)c(=O)[nH]c1=O JLCPHMBAVCMARE-UHFFFAOYSA-N 0.000 description 13
- 239000000872 buffer Substances 0.000 description 13
- 238000006243 chemical reaction Methods 0.000 description 13
- 230000002441 reversible effect Effects 0.000 description 11
- 108020004682 Single-Stranded DNA Proteins 0.000 description 10
- 238000013461 design Methods 0.000 description 10
- 238000004925 denaturation Methods 0.000 description 9
- 230000036425 denaturation Effects 0.000 description 9
- 239000000203 mixture Substances 0.000 description 9
- 102000054765 polymorphisms of proteins Human genes 0.000 description 9
- 102000004190 Enzymes Human genes 0.000 description 7
- 108090000790 Enzymes Proteins 0.000 description 7
- 239000002253 acid Substances 0.000 description 7
- 208000005652 acute fatty liver of pregnancy Diseases 0.000 description 7
- 230000008018 melting Effects 0.000 description 7
- 238000002844 melting Methods 0.000 description 7
- 150000007513 acids Chemical class 0.000 description 6
- 230000002068 genetic effect Effects 0.000 description 6
- 230000006872 improvement Effects 0.000 description 6
- 239000003921 oil Substances 0.000 description 6
- 108090000623 proteins and genes Proteins 0.000 description 6
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Substances O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 6
- 241000219112 Cucumis Species 0.000 description 5
- 235000015510 Cucumis melo subsp melo Nutrition 0.000 description 5
- 241000282414 Homo sapiens Species 0.000 description 5
- FJJCIZWZNKZHII-UHFFFAOYSA-N [4,6-bis(cyanoamino)-1,3,5-triazin-2-yl]cyanamide Chemical compound N#CNC1=NC(NC#N)=NC(NC#N)=N1 FJJCIZWZNKZHII-UHFFFAOYSA-N 0.000 description 5
- 238000010348 incorporation Methods 0.000 description 5
- 230000035772 mutation Effects 0.000 description 5
- 239000000126 substance Substances 0.000 description 5
- 102100031780 Endonuclease Human genes 0.000 description 4
- 108010042407 Endonucleases Proteins 0.000 description 4
- 238000012408 PCR amplification Methods 0.000 description 4
- 238000013459 approach Methods 0.000 description 4
- 230000002457 bidirectional effect Effects 0.000 description 4
- 210000000349 chromosome Anatomy 0.000 description 4
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 4
- VHJLVAABSRFDPM-QWWZWVQMSA-N dithiothreitol Chemical compound SC[C@@H](O)[C@H](O)CS VHJLVAABSRFDPM-QWWZWVQMSA-N 0.000 description 4
- -1 e. g. RNA Chemical class 0.000 description 4
- 229910052737 gold Inorganic materials 0.000 description 4
- 239000010931 gold Substances 0.000 description 4
- 238000011534 incubation Methods 0.000 description 4
- 238000003780 insertion Methods 0.000 description 4
- 230000037431 insertion Effects 0.000 description 4
- 238000005259 measurement Methods 0.000 description 4
- 238000007481 next generation sequencing Methods 0.000 description 4
- 238000011160 research Methods 0.000 description 4
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical compound CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 4
- LZZYPRNAOMGNLH-UHFFFAOYSA-M Cetrimonium bromide Chemical class [Br-].CCCCCCCCCCCCCCCC[N+](C)(C)C LZZYPRNAOMGNLH-UHFFFAOYSA-M 0.000 description 3
- 230000004544 DNA amplification Effects 0.000 description 3
- 238000007399 DNA isolation Methods 0.000 description 3
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 3
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 3
- 241000196324 Embryophyta Species 0.000 description 3
- 108091092878 Microsatellite Proteins 0.000 description 3
- 238000004873 anchoring Methods 0.000 description 3
- 239000002299 complementary DNA Substances 0.000 description 3
- 238000012217 deletion Methods 0.000 description 3
- 230000037430 deletion Effects 0.000 description 3
- 230000029087 digestion Effects 0.000 description 3
- 230000000694 effects Effects 0.000 description 3
- PCHJSUWPFVWCPO-UHFFFAOYSA-N gold Chemical compound [Au] PCHJSUWPFVWCPO-UHFFFAOYSA-N 0.000 description 3
- RAXXELZNTBOGNW-UHFFFAOYSA-N imidazole Natural products C1=CNC=N1 RAXXELZNTBOGNW-UHFFFAOYSA-N 0.000 description 3
- 208000024191 minimally invasive lung adenocarcinoma Diseases 0.000 description 3
- 238000002156 mixing Methods 0.000 description 3
- 102000040430 polynucleotide Human genes 0.000 description 3
- 108091033319 polynucleotide Proteins 0.000 description 3
- 239000002157 polynucleotide Substances 0.000 description 3
- 229920000136 polysorbate Polymers 0.000 description 3
- 230000008569 process Effects 0.000 description 3
- 238000012545 processing Methods 0.000 description 3
- 230000002035 prolonged effect Effects 0.000 description 3
- 238000012175 pyrosequencing Methods 0.000 description 3
- 238000003908 quality control method Methods 0.000 description 3
- 239000011541 reaction mixture Substances 0.000 description 3
- 238000011895 specific detection Methods 0.000 description 3
- 238000012360 testing method Methods 0.000 description 3
- 241000894006 Bacteria Species 0.000 description 2
- 108060002716 Exonuclease Proteins 0.000 description 2
- BQCADISMDOOEFD-UHFFFAOYSA-N Silver Chemical compound [Ag] BQCADISMDOOEFD-UHFFFAOYSA-N 0.000 description 2
- 238000004458 analytical method Methods 0.000 description 2
- 150000001718 carbodiimides Chemical class 0.000 description 2
- 210000004027 cell Anatomy 0.000 description 2
- 239000003153 chemical reaction reagent Substances 0.000 description 2
- 239000003795 chemical substances by application Substances 0.000 description 2
- 238000005520 cutting process Methods 0.000 description 2
- ATDGTVJJHBUTRL-UHFFFAOYSA-N cyanogen bromide Chemical compound BrC#N ATDGTVJJHBUTRL-UHFFFAOYSA-N 0.000 description 2
- 238000004163 cytometry Methods 0.000 description 2
- 229940104302 cytosine Drugs 0.000 description 2
- 239000005547 deoxyribonucleotide Substances 0.000 description 2
- 125000002637 deoxyribonucleotide group Chemical group 0.000 description 2
- XPPKVPWEQAFLFU-UHFFFAOYSA-J diphosphate(4-) Chemical compound [O-]P([O-])(=O)OP([O-])([O-])=O XPPKVPWEQAFLFU-UHFFFAOYSA-J 0.000 description 2
- 235000011180 diphosphates Nutrition 0.000 description 2
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 2
- 238000006073 displacement reaction Methods 0.000 description 2
- 239000012149 elution buffer Substances 0.000 description 2
- 230000002255 enzymatic effect Effects 0.000 description 2
- 102000013165 exonuclease Human genes 0.000 description 2
- 238000013467 fragmentation Methods 0.000 description 2
- 238000006062 fragmentation reaction Methods 0.000 description 2
- 230000007614 genetic variation Effects 0.000 description 2
- 238000012268 genome sequencing Methods 0.000 description 2
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 2
- 238000013537 high throughput screening Methods 0.000 description 2
- 230000000977 initiatory effect Effects 0.000 description 2
- 150000002500 ions Chemical class 0.000 description 2
- 101150044508 key gene Proteins 0.000 description 2
- 238000007834 ligase chain reaction Methods 0.000 description 2
- 239000003550 marker Substances 0.000 description 2
- 230000026731 phosphorylation Effects 0.000 description 2
- 238000006366 phosphorylation reaction Methods 0.000 description 2
- 238000005498 polishing Methods 0.000 description 2
- 238000003752 polymerase chain reaction Methods 0.000 description 2
- 238000002360 preparation method Methods 0.000 description 2
- 230000009467 reduction Effects 0.000 description 2
- 238000005096 rolling process Methods 0.000 description 2
- 229910052709 silver Inorganic materials 0.000 description 2
- 239000004332 silver Substances 0.000 description 2
- 239000007787 solid Substances 0.000 description 2
- 239000007790 solid phase Substances 0.000 description 2
- 239000000243 solution Substances 0.000 description 2
- 229940113082 thymine Drugs 0.000 description 2
- PENWAFASUFITRC-UHFFFAOYSA-N 2-(4-chlorophenyl)imidazo[2,1-a]isoquinoline Chemical compound C1=CC(Cl)=CC=C1C1=CN(C=CC=2C3=CC=CC=2)C3=N1 PENWAFASUFITRC-UHFFFAOYSA-N 0.000 description 1
- JUIKUQOUMZUFQT-UHFFFAOYSA-N 2-bromoacetamide Chemical group NC(=O)CBr JUIKUQOUMZUFQT-UHFFFAOYSA-N 0.000 description 1
- 229930024421 Adenine Natural products 0.000 description 1
- GFFGJBXGBJISGV-UHFFFAOYSA-N Adenine Chemical compound NC1=NC=NC2=C1N=CN2 GFFGJBXGBJISGV-UHFFFAOYSA-N 0.000 description 1
- FHFBSEZFJDVHCC-QJPTWQEYSA-O CC(C)(C)C(OC[S+]=C(C(C)=CN1[C@@H](C2)O[C@H](CO)[C@H]2O)NC1=O)=O Chemical compound CC(C)(C)C(OC[S+]=C(C(C)=CN1[C@@H](C2)O[C@H](CO)[C@H]2O)NC1=O)=O FHFBSEZFJDVHCC-QJPTWQEYSA-O 0.000 description 1
- 108020004998 Chloroplast DNA Proteins 0.000 description 1
- 102100029995 DNA ligase 1 Human genes 0.000 description 1
- 238000001712 DNA sequencing Methods 0.000 description 1
- 230000006820 DNA synthesis Effects 0.000 description 1
- 102000016911 Deoxyribonucleases Human genes 0.000 description 1
- 108010053770 Deoxyribonucleases Proteins 0.000 description 1
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 1
- 102000004533 Endonucleases Human genes 0.000 description 1
- 241000588724 Escherichia coli Species 0.000 description 1
- 108010010803 Gelatin Proteins 0.000 description 1
- 241000282412 Homo Species 0.000 description 1
- 241001465754 Metazoa Species 0.000 description 1
- 108020005196 Mitochondrial DNA Proteins 0.000 description 1
- 101710163270 Nuclease Proteins 0.000 description 1
- 108091092740 Organellar DNA Proteins 0.000 description 1
- 239000012807 PCR reagent Substances 0.000 description 1
- 241000205160 Pyrococcus Species 0.000 description 1
- 108010092799 RNA-directed DNA polymerase Proteins 0.000 description 1
- 208000035199 Tetraploidy Diseases 0.000 description 1
- 241000589596 Thermus Species 0.000 description 1
- 241000589500 Thermus aquaticus Species 0.000 description 1
- 239000007983 Tris buffer Substances 0.000 description 1
- 229920004890 Triton X-100 Polymers 0.000 description 1
- 241000700605 Viruses Species 0.000 description 1
- 230000003213 activating effect Effects 0.000 description 1
- 229960000643 adenine Drugs 0.000 description 1
- 125000003275 alpha amino acid group Chemical group 0.000 description 1
- 125000003277 amino group Chemical group 0.000 description 1
- 238000012197 amplification kit Methods 0.000 description 1
- 210000004507 artificial chromosome Anatomy 0.000 description 1
- 230000000903 blocking effect Effects 0.000 description 1
- 239000003638 chemical reducing agent Substances 0.000 description 1
- 210000003763 chloroplast Anatomy 0.000 description 1
- 238000010367 cloning Methods 0.000 description 1
- 108091036078 conserved sequence Proteins 0.000 description 1
- 125000004122 cyclic group Chemical group 0.000 description 1
- 230000001351 cycling effect Effects 0.000 description 1
- OOTFVKOQINZBBF-UHFFFAOYSA-N cystamine Chemical compound CCSSCCN OOTFVKOQINZBBF-UHFFFAOYSA-N 0.000 description 1
- 229940099500 cystamine Drugs 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 230000008021 deposition Effects 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 210000001840 diploid cell Anatomy 0.000 description 1
- 201000010099 disease Diseases 0.000 description 1
- 208000035475 disorder Diseases 0.000 description 1
- 238000009826 distribution Methods 0.000 description 1
- 239000003814 drug Substances 0.000 description 1
- 229940079593 drug Drugs 0.000 description 1
- 238000004945 emulsification Methods 0.000 description 1
- 230000001804 emulsifying effect Effects 0.000 description 1
- 150000002148 esters Chemical class 0.000 description 1
- 230000008020 evaporation Effects 0.000 description 1
- 238000001704 evaporation Methods 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 229920000159 gelatin Polymers 0.000 description 1
- 239000008273 gelatin Substances 0.000 description 1
- 235000019322 gelatine Nutrition 0.000 description 1
- 235000011852 gelatine desserts Nutrition 0.000 description 1
- 238000007429 general method Methods 0.000 description 1
- 238000010438 heat treatment Methods 0.000 description 1
- 229920001519 homopolymer Polymers 0.000 description 1
- 239000001257 hydrogen Substances 0.000 description 1
- 229910052739 hydrogen Inorganic materials 0.000 description 1
- XMBWDFGMSWQBCA-UHFFFAOYSA-N hydrogen iodide Chemical compound I XMBWDFGMSWQBCA-UHFFFAOYSA-N 0.000 description 1
- 125000002887 hydroxy group Chemical group [H]O* 0.000 description 1
- SLPWXZZHNSOZPX-UHFFFAOYSA-N imidazole-1-carbonitrile Chemical compound N#CN1C=CN=C1 SLPWXZZHNSOZPX-UHFFFAOYSA-N 0.000 description 1
- 238000000338 in vitro Methods 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 238000011901 isothermal amplification Methods 0.000 description 1
- 238000011068 loading method Methods 0.000 description 1
- 239000000463 material Substances 0.000 description 1
- 230000001404 mediated effect Effects 0.000 description 1
- 230000003278 mimic effect Effects 0.000 description 1
- 239000002480 mineral oil Substances 0.000 description 1
- 235000010446 mineral oil Nutrition 0.000 description 1
- 230000002438 mitochondrial effect Effects 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- 238000010369 molecular cloning Methods 0.000 description 1
- 238000012544 monitoring process Methods 0.000 description 1
- 125000001863 phosphorothioyl group Chemical group *P(*)(*)=S 0.000 description 1
- 239000013612 plasmid Substances 0.000 description 1
- 238000006116 polymerization reaction Methods 0.000 description 1
- 238000011533 pre-incubation Methods 0.000 description 1
- 239000012264 purified product Substances 0.000 description 1
- 230000010076 replication Effects 0.000 description 1
- 238000007894 restriction fragment length polymorphism technique Methods 0.000 description 1
- 150000003839 salts Chemical class 0.000 description 1
- 239000004065 semiconductor Substances 0.000 description 1
- 238000010008 shearing Methods 0.000 description 1
- YZHUMGUJCQRKBT-UHFFFAOYSA-M sodium chlorate Chemical compound [Na+].[O-]Cl(=O)=O YZHUMGUJCQRKBT-UHFFFAOYSA-M 0.000 description 1
- 230000002269 spontaneous effect Effects 0.000 description 1
- 239000007858 starting material Substances 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- RYYWUUFWQRZTIU-UHFFFAOYSA-K thiophosphate Chemical compound [O-]P([O-])([O-])=S RYYWUUFWQRZTIU-UHFFFAOYSA-K 0.000 description 1
- JOXIMZWYDAKGHI-UHFFFAOYSA-N toluene-4-sulfonic acid Chemical compound CC1=CC=C(S(O)(=O)=O)C=C1 JOXIMZWYDAKGHI-UHFFFAOYSA-N 0.000 description 1
- 238000009966 trimming Methods 0.000 description 1
- 235000011178 triphosphate Nutrition 0.000 description 1
- 239000001226 triphosphate Substances 0.000 description 1
- 125000002264 triphosphate group Chemical class [H]OP(=O)(O[H])OP(=O)(O[H])OP(=O)(O[H])O* 0.000 description 1
- LENZDBCJOHFCAS-UHFFFAOYSA-N tris Chemical compound OCC(N)(CO)CO LENZDBCJOHFCAS-UHFFFAOYSA-N 0.000 description 1
- 238000010200 validation analysis Methods 0.000 description 1
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
- C12Q1/6869—Methods for sequencing
- C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation
-
- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
-
- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
- C12Q1/683—Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Engineering & Computer Science (AREA)
- Molecular Biology (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- Physics & Mathematics (AREA)
- Biophysics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Chemical Kinetics & Catalysis (AREA)
Claims (15)
1. Fremgangsmåde til bestemmelse af en målnukleotidsekvens i en prøve, hvilken fremgangsmåde omfatter følgende trin: (a) at tilvejebringe en første probe (P1) og en anden probe (P2) for hver målnukleotidsekvens (T), hvor den første probe omfatter et første målspecifikt afsnit (TS1) og et første tag-afsnit (TAG1), som er ikke-komplementært til målnukleotidsekvensen, og som eventuelt omfatter en første primerbindingssekvens (PBS1), hvor det første tag-afsnit omfatter en første genkendelsessekvens (RE1) for en første restri ktionsendonu kl ease; hvor den anden probe omfatter et andet målspecifikt afsnit (TS2) og et andet tag-afsnit (TAG2), som er ikke-komplementært til målnukleotidsekvensen, og som omfatter en eventuel anden primerbindingssekvens (PBS2), hvor det andet tag-afsnit omfatter en anden genkendelsessekvens (RE2) for en anden restriktionsendonuklease; (b) at give det første og det andet målspecifikke afsnit af henholdsvis den første og den anden probe mulighed for at hybridisere med målsekvensen; (c) at ligere den første og den anden probe, når de respektive målspecifikke afsnit af proberne er hybridiseret med i det væsentlige nabostillede afsnit på målsekvensen, for at tilvejebringe ligerede prober (LP); (d) eventuelt at amplificere de ligerede prober med en eventuel første og/eller en eventuel anden primer for at tilvejebringe amplikoner (A); (e) at spalte de ligerede prober eller amplikoner med den første og/eller den anden restriktionsendonuklease for at tilvejebringe spaltede ligerede prober (RLP) eller spaltede amplikoner (RA) og ligere en første og/eller en anden adapter indeholdende en adapterbaseret identifikator (AD ID1, AD ID2) til de spaltede ligerede prober (RLP) eller spaltede amplikoner (RA); (f) at underkaste de adapterligerede spaltede ligerede prober (RLP) eller adapter!igerede spaltede amplikoner (RA) high throughput-sekventeringsteknologi for at bestemme mindst en del af nukleotidsekvensen for de spaltede ligerede prober eller spaltede amplikoner; (g) at identificere tilstedeværelsen, fraværet eller mængden af målnukleotidsekvensen i prøven.
2. Fremgangsmåde ifølge krav 1, hvor en første probebaseret identifikatorsekvens (ID1) er placeret i det første tag-afsnit, og/eller hvor en anden probebaseret identifikatorsekvens (ID2) er placeret i det andet tag-afsnit.
3. Fremgangsmåde ifølge krav 1-2, hvor den første probebaserede identifikator er placeret mellem den første genkendelsessekvens for en restriktionsendonuklease og det første målspecifikke afsnit, og/eller hvor den anden probebaserede identifikator er placeret mellem den anden genkendelsessekvens for en restriktionsendonuklease og det andet målspecifikke afsnit.
4. Fremgangsmåde ifølge krav 1-3, hvor hybridiseringen, ligeringen og den eventuelle åbningsudfyldning udføres i et kombineret trin.
5. Fremgangsmåde ifølge krav 1-4, hvor genkendelsessekvensen for restriktionsendonukleasen for det første tag-afsnit har en anden nukleotidsekvens sammenlignet med genkendelsesstedet for restriktionsendonukleasen for det andet tag-afsnit.
6. Fremgangsmåde ifølge krav 1-5, hvor high throughput-sekventeringen omfatter sekventering ved syntese.
7. Fremgangsmåde ifølge krav 1-5, hvor high throughput-sekventeringen omfatter brodannelsesamplificering eller emulsionsamplificering.
8. Fremgangsmåde ifølge krav 1-5, hvor high throughput-sekventeringen omfatter envejs-single read-sekventering, envejs-single read-double priming-sekventering, tovejs (paired end)-sekventering eller mate pair-sekventering.
9. Fremgangsmåde ifølge krav 1-8, hvor en flerhed af målsekvenser bestemmes i én prøve, eller hvor én målsekvens bestemmes i en flerhed af prøver, eller hvor en flerhed af målsekvenser bestemmes i en flerhed af prøver.
10. Fremgangsmåde ifølge krav 1-9, hvor proberne er prober, der kan ringsluttes, keylock-prober og/eller sammensatte prober.
11. Fremgangsmåde til genotypebestemmelse af en biologisk prøve for tilstedeværelsen, fraværet eller mængden af en målsekvens i prøven ved anvendelse af et oligonukleotidligeringsassay, som omfatter mindst to prober, hvor mindst en af proberne ud over et målafsnit omfatter en genkendelsessekvens for en restriktionsendonuklease, hvor fremgangsmåden endvidere omfatter et ligeringstrin til tilvejebringelse af ligerede prober, hvor de ligerede prober efter ligering spaltes eller amplificeres efterfulgt af spaltning til dannelse af spaltede ligerede prober (RLP) eller spaltede amplikoner (RA), hvor der til de resulterende RLP/RA ligeres en eller to adaptere, der indeholder en eller flere identifikatorer, og hvor de resulterende adapterligerede RLP/RA sekventeres.
12. Fremgangsmåde ifølge krav 11, hvor fremgangsmåden endvidere omfatter et amplificeringstrin til tilvejebringelse af amplikoner.
13. Fremgangsmåde ifølge krav 12, hvor fremgangsmåden endvidere omfatter et trin, hvor amplikonerne eller de ligerede prober bringes i kontakt med en restriktionsendonuklease for at tilvejebringe spaltede amplikoner og/eller spaltede ligerede prober.
14. Fremgangsmåde ifølge krav 11-13, hvor genotypebestemmelsen er codominant genotypebestemmelse, som omfatter mindst to allelspecifikke prober.
15. Fremgangsmåde ifølge krav 11-14, hvor mindst en del af sekvensen af en del af de spaltede amplikoner eller de spaltede ligerede prober bestemmes.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161505787P | 2011-07-08 | 2011-07-08 | |
| PCT/NL2012/050493 WO2013009175A1 (en) | 2011-07-08 | 2012-07-09 | Sequence based genotyping based on oligonucleotide ligation assays |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| DK2729580T3 true DK2729580T3 (da) | 2015-12-14 |
Family
ID=46579302
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| DK12738652.2T DK2729580T3 (da) | 2011-07-08 | 2012-07-09 | Sekvensbaseret genotypebestemmelse baseret på oligonukleotidligeringsassays |
Country Status (8)
| Country | Link |
|---|---|
| US (4) | US9777322B2 (da) |
| EP (2) | EP2729580B1 (da) |
| JP (1) | JP6028025B2 (da) |
| AU (1) | AU2012281242B2 (da) |
| CA (1) | CA2840929C (da) |
| DK (1) | DK2729580T3 (da) |
| ES (1) | ES2556580T3 (da) |
| WO (1) | WO2013009175A1 (da) |
Families Citing this family (37)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
| US10533223B2 (en) | 2010-08-06 | 2020-01-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| DK2729580T3 (da) * | 2011-07-08 | 2015-12-14 | Keygene Nv | Sekvensbaseret genotypebestemmelse baseret på oligonukleotidligeringsassays |
| PT2828218T (pt) | 2012-03-20 | 2020-11-11 | Univ Washington Through Its Center For Commercialization | Métodos para baixar a taxa de erro da sequenciação paralela massiva de adn utilizando sequenciação duplex de consensus |
| WO2013192292A1 (en) * | 2012-06-21 | 2013-12-27 | Justin Lamb | Massively-parallel multiplex locus-specific nucleic acid sequence analysis |
| JP6234463B2 (ja) * | 2012-09-10 | 2017-11-22 | ジーンスカイ ダイアグノスティクス（スーツォウ） インコーポレーテッドＧｅｎｅｓｋｙ Ｄｉａｇｎｏｓｔｉｃｓ （Ｓｕｚｈｏｕ） Ｉｎｃ． | 核酸の多重分析の方法 |
| US9270344B2 (en) * | 2013-02-01 | 2016-02-23 | Creating Revolutions, LLC | Combination process interaction |
| WO2014165267A2 (en) * | 2013-03-12 | 2014-10-09 | Counsyl, Inc. | Systems and methods for prenatal genetic analysis |
| IL285521B2 (en) | 2013-08-19 | 2023-03-01 | Singular Bio Inc | Methods for single molecule detection |
| WO2015185564A1 (en) * | 2014-06-02 | 2015-12-10 | Base4 Innovation Ltd | Nucleotide polymorphism detection method |
| JP6793112B2 (ja) * | 2014-08-01 | 2020-12-02 | アリオサ ダイアグノスティックス インコーポレイテッドＡｒｉｏｓａ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． | 胎児コピー数変異の統計的尤度を提供するアッセイ方法および胎児染色体異数性の尤度決定のためのアッセイ方法 |
| CN104372093B (zh) * | 2014-11-10 | 2016-09-21 | 博奥生物集团有限公司 | 一种基于高通量测序的snp检测方法 |
| CN113528623A (zh) * | 2015-02-18 | 2021-10-22 | 卓异生物公司 | 用于单分子检测的测定及其应用 |
| GB2536446B (en) * | 2015-03-17 | 2020-06-03 | Salisbury Nhs Found Trust | PCR method |
| US10844428B2 (en) * | 2015-04-28 | 2020-11-24 | Illumina, Inc. | Error suppression in sequenced DNA fragments using redundant reads with unique molecular indices (UMIS) |
| US10689690B2 (en) | 2015-08-13 | 2020-06-23 | Centrillion Technology Holdings Corporation | Library construction using Y-adapters and vanishing restriction sites |
| CA3006792A1 (en) | 2015-12-08 | 2017-06-15 | Twinstrand Biosciences, Inc. | Improved adapters, methods, and compositions for duplex sequencing |
| EP3565906B1 (en) * | 2017-01-05 | 2021-01-27 | Tervisetehnoloogiate Arenduskeskus AS | Quantifying dna sequences |
| SG11201906428SA (en) | 2017-01-18 | 2019-08-27 | Illumina Inc | Methods and systems for generation and error-correction of unique molecular index sets with heterogeneous molecular lengths |
| US11447818B2 (en) | 2017-09-15 | 2022-09-20 | Illumina, Inc. | Universal short adapters with variable length non-random unique molecular identifiers |
| AU2018366213B2 (en) | 2017-11-08 | 2025-05-15 | Twinstrand Biosciences, Inc. | Reagents and adapters for nucleic acid sequencing and methods for making such reagents and adapters |
| US11639928B2 (en) * | 2018-02-22 | 2023-05-02 | 10X Genomics, Inc. | Methods and systems for characterizing analytes from individual cells or cell populations |
| EP3768853A4 (en) * | 2018-03-23 | 2021-04-28 | Board Of Regents The University Of Texas System | EFFICIENT SEQUENCING OF DSDNA WITH EXTREMELY LOW ERROR RATE |
| AU2019287163B2 (en) | 2018-06-12 | 2025-08-21 | Keygene N.V. | Nucleic acid amplification method |
| BR112021000409A2 (pt) | 2018-07-12 | 2021-04-06 | Twinstrand Biosciences, Inc. | Métodos e reagentes para caracterizar edição genômica, expansão clonal e aplicações associadas |
| CA3125458A1 (en) * | 2019-01-04 | 2020-07-09 | William Marsh Rice University | Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation |
| CA3127572A1 (en) | 2019-02-21 | 2020-08-27 | Keygene N.V. | Genotyping of polyploids |
| WO2021050560A1 (en) * | 2019-09-09 | 2021-03-18 | Sherlock Biosciences | System |
| JP2022547699A (ja) * | 2019-09-12 | 2022-11-15 | グラクソスミスクライン、インテレクチュアル、プロパティー、ディベロップメント、リミテッド | ライブラリーのスクリーニング方法 |
| CN117015617B (zh) | 2021-02-23 | 2025-04-04 | 10X基因组学有限公司 | 基于探针的核酸和蛋白质分析 |
| US12601008B2 (en) | 2021-11-04 | 2026-04-14 | Florida State University Research Foundation, Inc. | Using hairpin formation to identify DNA and RNA sequences having a target nucleic acid sequence |
| CN117987521A (zh) * | 2023-02-08 | 2024-05-07 | 深圳市真迈生物科技有限公司 | 测序方法 |
| CN118006735B (zh) * | 2023-05-30 | 2025-07-04 | 深圳赛陆医疗科技有限公司 | 一种snp芯片及其制备方法和应用 |
Family Cites Families (80)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US4883750A (en) | 1984-12-13 | 1989-11-28 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
| US5242794A (en) | 1984-12-13 | 1993-09-07 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
| GB8612087D0 (en) | 1986-05-19 | 1986-06-25 | Ici Plc | Hybridisation probes |
| CA1323293C (en) | 1987-12-11 | 1993-10-19 | Keith C. Backman | Assay using template-dependent nucleic acid probe reorganization |
| US4988617A (en) | 1988-03-25 | 1991-01-29 | California Institute Of Technology | Method of detecting a nucleotide change in nucleic acids |
| ATE138106T1 (de) | 1988-07-20 | 1996-06-15 | David Segev | Verfahren zur amplifizierung und zum nachweis von nukleinsäuresequenzen |
| US5185243A (en) | 1988-08-25 | 1993-02-09 | Syntex (U.S.A.) Inc. | Method for detection of specific nucleic acid sequences |
| CA2035010C (en) | 1990-01-26 | 1996-12-10 | Keith C. Backman | Method of amplifying target nucleic acids applicable to both polymerase and ligase chain reactions |
| AU672760B2 (en) | 1991-09-24 | 1996-10-17 | Keygene N.V. | Selective restriction fragment amplification: a general method for DNA fingerprinting |
| US5470705A (en) | 1992-04-03 | 1995-11-28 | Applied Biosystems, Inc. | Probe composition containing a binding domain and polymer chain and methods of use |
| ES2204913T3 (es) | 1993-04-12 | 2004-05-01 | Northwestern University | Metodo para formacion de oligonucleotidos. |
| US5692223A (en) | 1993-10-22 | 1997-11-25 | Minolta Co., Ltd. | Remotely-controlled flash photographing system |
| SE9400522D0 (sv) | 1994-02-16 | 1994-02-16 | Ulf Landegren | Method and reagent for detecting specific nucleotide sequences |
| US5942391A (en) | 1994-06-22 | 1999-08-24 | Mount Sinai School Of Medicine | Nucleic acid amplification method: ramification-extension amplification method (RAM) |
| US20070269799A9 (en) * | 1994-06-22 | 2007-11-22 | Zhang David Y | Nucleic acid amplification methods |
| US5876924A (en) | 1994-06-22 | 1999-03-02 | Mount Sinai School Of Medicine | Nucleic acid amplification method hybridization signal amplification method (HSAM) |
| WO1996015271A1 (en) | 1994-11-16 | 1996-05-23 | Abbott Laboratories | Multiplex ligations-dependent amplification |
| SE506908C2 (sv) | 1995-09-08 | 1998-03-02 | Ulf Landegren Inst F Medicinsk | Medicinsk användning av padlockprober |
| EP2369007B1 (en) | 1996-05-29 | 2015-07-29 | Cornell Research Foundation, Inc. | Detection of nucleic acid sequence differences using coupled ligase detection and polymerase chain reactions |
| US6312892B1 (en) | 1996-07-19 | 2001-11-06 | Cornell Research Foundation, Inc. | High fidelity detection of nucleic acid differences by ligase detection reaction |
| DE69813203T2 (de) | 1998-07-21 | 2004-02-12 | Keygene N.V. | Verbesserte Primer zur AFLP Amplifizierung |
| GB0002310D0 (en) | 2000-02-01 | 2000-03-22 | Solexa Ltd | Polynucleotide sequencing |
| WO2000006770A1 (en) | 1998-07-30 | 2000-02-10 | Solexa Ltd. | Arrayed biomolecules and their use in sequencing |
| EP1131153A1 (en) | 1998-11-06 | 2001-09-12 | Solexa Ltd. | A method for reproducing molecular arrays |
| WO2000058507A1 (en) | 1999-03-30 | 2000-10-05 | Solexa Ltd. | Polynucleotide sequencing |
| US20020086289A1 (en) | 1999-06-15 | 2002-07-04 | Don Straus | Genomic profiling: a rapid method for testing a complex biological sample for the presence of many types of organisms |
| US6156178A (en) | 1999-07-13 | 2000-12-05 | Molecular Dynamics, Inc. | Increased throughput analysis of small compounds using multiple temporally spaced injections |
| AU7537200A (en) | 1999-09-29 | 2001-04-30 | Solexa Ltd. | Polynucleotide sequencing |
| GB0002389D0 (en) | 2000-02-02 | 2000-03-22 | Solexa Ltd | Molecular arrays |
| US6221603B1 (en) | 2000-02-04 | 2001-04-24 | Molecular Dynamics, Inc. | Rolling circle amplification assay for nucleic acid analysis |
| EP1130113A1 (en) | 2000-02-15 | 2001-09-05 | Johannes Petrus Schouten | Multiplex ligation dependent amplification assay |
| AU2001265121A1 (en) | 2000-05-30 | 2001-12-11 | Applera Corporation | Methods for detecting target nucleic acids using coupled ligation and amplification |
| DE60222628T2 (de) | 2001-01-30 | 2008-07-17 | Solexa Ltd., Saffron Walden | Herstellung von matrizen aus polynukleotiden |
| WO2003004690A2 (en) | 2001-07-06 | 2003-01-16 | 454$m(3) CORPORATION | Method for isolation of independent, parallel chemical micro-reactions using a porous filter |
| GB0119719D0 (en) | 2001-08-13 | 2001-10-03 | Solexa Ltd | DNA sequence analysis |
| US6902921B2 (en) | 2001-10-30 | 2005-06-07 | 454 Corporation | Sulfurylase-luciferase fusion proteins and thermostable sulfurylase |
| US7057026B2 (en) | 2001-12-04 | 2006-06-06 | Solexa Limited | Labelled nucleotides |
| US20030119004A1 (en) | 2001-12-05 | 2003-06-26 | Wenz H. Michael | Methods for quantitating nucleic acids using coupled ligation and amplification |
| EP1319718A1 (en) | 2001-12-14 | 2003-06-18 | Keygene N.V. | High throughput analysis and detection of multiple target sequences |
| DE10162904B4 (de) | 2001-12-20 | 2006-05-11 | Jeyes Deutschland Gmbh | Vorrichtung zur Abgabe eines flüssigen Wirkstoffs in ein Spülwasser |
| WO2003060163A2 (en) * | 2001-12-28 | 2003-07-24 | Keygene N.V. | Discrimination and detection of target nucleotide sequences using mass spectrometry |
| PT3438116T (pt) | 2002-08-23 | 2021-03-23 | Illumina Cambridge Ltd | Nucleótidos identificados |
| WO2004018497A2 (en) | 2002-08-23 | 2004-03-04 | Solexa Limited | Modified nucleotides for polynucleotide sequencing |
| EP1567669B1 (en) | 2002-12-02 | 2010-03-24 | Illumina Cambridge Limited | Determination of methylation of nucleic acid sequences |
| CA2513899C (en) | 2003-01-29 | 2013-03-26 | 454 Corporation | Methods of amplifying and sequencing nucleic acids |
| GB0304371D0 (en) | 2003-02-26 | 2003-04-02 | Solexa Ltd | DNA Sequence analysis |
| WO2005001129A2 (en) * | 2003-06-06 | 2005-01-06 | Applera Corporation | Mobility cassettes |
| EP1633888B1 (en) | 2003-06-17 | 2009-03-25 | Keygene N.V. | Means and method for the detection of target nucleotide sequences using ligation assays with improved oligonucleotide probe pairs |
| GB0320059D0 (en) | 2003-08-27 | 2003-10-01 | Solexa Ltd | A method of sequencing |
| WO2005026389A2 (en) * | 2003-08-29 | 2005-03-24 | MAX-PLANCK-Gesellschaft zur Förderung der Wissenschaften e.V. | Ligation-based method of analysis of single nucleotide polymorphisms on genomic dna |
| EP1602733A1 (en) | 2004-06-02 | 2005-12-07 | Keygene N.V. | Detection of target nucleotide sequences using an asymmetric oligonucleotide ligation assay |
| US8808991B2 (en) | 2003-09-02 | 2014-08-19 | Keygene N.V. | Ola-based methods for the detection of target nucleic avid sequences |
| GB0326073D0 (en) | 2003-11-07 | 2003-12-10 | Solexa Ltd | Improvements in or relating to polynucleotide arrays |
| EP1701785A1 (en) | 2004-01-07 | 2006-09-20 | Solexa Ltd. | Modified molecular arrays |
| GB0400584D0 (en) | 2004-01-12 | 2004-02-11 | Solexa Ltd | Nucleic acid chacterisation |
| GB0400974D0 (en) | 2004-01-16 | 2004-02-18 | Solexa Ltd | Multiple inexact matching |
| GB0402895D0 (en) | 2004-02-10 | 2004-03-17 | Solexa Ltd | Arrayed polynucleotides |
| US20060211000A1 (en) * | 2005-03-21 | 2006-09-21 | Sorge Joseph A | Methods, compositions, and kits for detection of microRNA |
| CA2615323A1 (en) | 2005-06-06 | 2007-12-21 | 454 Life Sciences Corporation | Paired end sequencing |
| CN103937899B (zh) * | 2005-12-22 | 2017-09-08 | 凯津公司 | 用于基于aflp的高通量多态性检测的方法 |
| WO2007101075A2 (en) * | 2006-02-22 | 2007-09-07 | Applera Corporation | Double-ligation method for haplotype and large-scale polymorphism detection |
| EP1991698B1 (en) * | 2006-03-01 | 2013-12-18 | Keygene N.V. | High throughput sequence-based detection of snps using ligation assays |
| US8349167B2 (en) | 2006-12-14 | 2013-01-08 | Life Technologies Corporation | Methods and apparatus for detecting molecular interactions using FET arrays |
| GB2457851B (en) | 2006-12-14 | 2011-01-05 | Ion Torrent Systems Inc | Methods and apparatus for measuring analytes using large scale fet arrays |
| US8852864B2 (en) | 2008-01-17 | 2014-10-07 | Sequenom Inc. | Methods and compositions for the analysis of nucleic acids |
| EP2307577B1 (en) | 2008-06-25 | 2015-06-03 | Life Technologies Corporation | Methods for measuring analytes using large scale fet arrays |
| JP2011525990A (ja) | 2008-06-26 | 2011-09-29 | ライフ テクノロジーズ コーポレーション | Ｆｅｔアレイを用いて分子相互作用を検出するための方法および装置 |
| US20100035252A1 (en) | 2008-08-08 | 2010-02-11 | Ion Torrent Systems Incorporated | Methods for sequencing individual nucleic acids under tension |
| CN103901090B (zh) | 2008-10-22 | 2017-03-22 | 生命技术公司 | 用于生物和化学分析的集成式传感器阵列 |
| US8546128B2 (en) | 2008-10-22 | 2013-10-01 | Life Technologies Corporation | Fluidics system for sequential delivery of reagents |
| US20100137143A1 (en) | 2008-10-22 | 2010-06-03 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes |
| US20100301398A1 (en) | 2009-05-29 | 2010-12-02 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes |
| EP2425240A4 (en) | 2009-04-30 | 2012-12-12 | Good Start Genetics Inc | METHOD AND COMPOSITION FOR EVALUATING GENETIC MARKERS |
| US8673627B2 (en) | 2009-05-29 | 2014-03-18 | Life Technologies Corporation | Apparatus and methods for performing electrochemical reactions |
| EP2435461B1 (en) | 2009-05-29 | 2017-08-09 | Life Technologies Corporation | Scaffolded nucleic acid polymer particles and methods of making and using |
| US8574835B2 (en) | 2009-05-29 | 2013-11-05 | Life Technologies Corporation | Scaffolded nucleic acid polymer particles and methods of making and using |
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| WO2012021749A1 (en) | 2010-08-11 | 2012-02-16 | Celula, Inc. | Genotyping dna |
| US9745616B2 (en) | 2011-05-17 | 2017-08-29 | Dxterity Diagnostics Incorporated | Methods and compositions for detecting target nucleic acids |
| DK2729580T3 (da) * | 2011-07-08 | 2015-12-14 | Keygene Nv | Sekvensbaseret genotypebestemmelse baseret på oligonukleotidligeringsassays |
-
2012
- 2012-07-09 DK DK12738652.2T patent/DK2729580T3/da active
- 2012-07-09 CA CA2840929A patent/CA2840929C/en active Active
- 2012-07-09 AU AU2012281242A patent/AU2012281242B2/en not_active Ceased
- 2012-07-09 US US14/131,181 patent/US9777322B2/en active Active
- 2012-07-09 EP EP12738652.2A patent/EP2729580B1/en active Active
- 2012-07-09 EP EP15185310.8A patent/EP2980226A1/en not_active Withdrawn
- 2012-07-09 JP JP2014518468A patent/JP6028025B2/ja active Active
- 2012-07-09 WO PCT/NL2012/050493 patent/WO2013009175A1/en not_active Ceased
- 2012-07-09 ES ES12738652.2T patent/ES2556580T3/es active Active
-
2017
- 2017-08-22 US US15/683,063 patent/US10422001B2/en active Active
-
2019
- 2019-08-13 US US16/539,119 patent/US10988807B2/en active Active
-
2021
- 2021-03-22 US US17/208,728 patent/US11873529B2/en active Active
Also Published As
| Publication number | Publication date |
|---|---|
| US20200071757A1 (en) | 2020-03-05 |
| US11873529B2 (en) | 2024-01-16 |
| EP2729580A1 (en) | 2014-05-14 |
| AU2012281242B2 (en) | 2016-12-22 |
| JP2014520525A (ja) | 2014-08-25 |
| US20180023135A1 (en) | 2018-01-25 |
| WO2013009175A1 (en) | 2013-01-17 |
| US20140221217A1 (en) | 2014-08-07 |
| US9777322B2 (en) | 2017-10-03 |
| EP2980226A1 (en) | 2016-02-03 |
| JP6028025B2 (ja) | 2016-11-16 |
| US20210207213A1 (en) | 2021-07-08 |
| CA2840929A1 (en) | 2013-01-17 |
| AU2012281242A1 (en) | 2014-02-27 |
| CA2840929C (en) | 2020-03-24 |
| US10422001B2 (en) | 2019-09-24 |
| ES2556580T3 (es) | 2016-01-19 |
| EP2729580B1 (en) | 2015-09-16 |
| US10988807B2 (en) | 2021-04-27 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US11873529B2 (en) | Sequence based genotyping based on oligonucleotide ligation assays | |
| JP5237126B2 (ja) | ライゲーションアッセイを用いてハイスループットシークエンスに基づき遺伝子関連配列を検出する方法 | |
| US11649494B2 (en) | High throughput screening of populations carrying naturally occurring mutations | |
| JP2024060054A (ja) | ヌクレアーゼ、リガーゼ、ポリメラーゼ、及び配列決定反応の組み合わせを用いた、核酸配列、発現、コピー、またはｄｎａのメチル化変化の識別及び計数方法 | |
| EP2002017B1 (en) | High throughput detection of molecular markers based on restriction fragments |