DK2729580T3 - SEQUENCE BASED genotyping BASED ON OLIGONUKLEOTIDLIGERINGSASSAYS - Google Patents
SEQUENCE BASED genotyping BASED ON 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)
- Biochemistry (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biotechnology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Chemical Kinetics & Catalysis (AREA)
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 (en) | 2015-12-14 |
Family
ID=46579302
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| DK12738652.2T DK2729580T3 (en) | 2011-07-08 | 2012-07-09 | SEQUENCE BASED genotyping BASED ON OLIGONUKLEOTIDLIGERINGSASSAYS |
Country Status (8)
| Country | Link |
|---|---|
| US (4) | US9777322B2 (OSRAM) |
| EP (2) | EP2729580B1 (OSRAM) |
| JP (1) | JP6028025B2 (OSRAM) |
| AU (1) | AU2012281242B2 (OSRAM) |
| CA (1) | CA2840929C (OSRAM) |
| DK (1) | DK2729580T3 (OSRAM) |
| ES (1) | ES2556580T3 (OSRAM) |
| WO (1) | WO2013009175A1 (OSRAM) |
Families Citing this family (36)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| WO2013009175A1 (en) * | 2011-07-08 | 2013-01-17 | Keygene N.V. | Sequence based genotyping based on oligonucleotide ligation assays |
| 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 |
| WO2014036743A1 (en) * | 2012-09-10 | 2014-03-13 | Genesky Diagnostics (Suzhou) Inc. | Method for multiplex nucleic acid analysis |
| US9270344B2 (en) * | 2013-02-01 | 2016-02-23 | Creating Revolutions, LLC | Combination process interaction |
| JP2016513461A (ja) * | 2013-03-12 | 2016-05-16 | カウンシル，インコーポレーテッド | 出生前遺伝子分析システム及び方法 |
| EP3036545B1 (en) | 2013-08-19 | 2019-07-03 | Singular Bio Inc. | Assays for single molecule detection and use thereof |
| CN106460057A (zh) * | 2014-06-02 | 2017-02-22 | 贝斯4创新公司 | 核苷酸多态性检测方法 |
| CA2955740A1 (en) * | 2014-08-01 | 2016-02-04 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| 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 |
| KR20170116157A (ko) * | 2015-02-18 | 2017-10-18 | 싱귤러 바이오, 인코포레이티드 | 단일분자 검출용 분석 및 그의 용도 |
| 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) |
| CN106435744B (zh) | 2015-08-13 | 2022-02-01 | 生捷科技控股公司 | 使用y-接头和消失限制位点的文库构建 |
| WO2017100441A1 (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 |
| JP7051900B2 (ja) | 2017-01-18 | 2022-04-11 | イルミナ インコーポレイテッド | 不均一分子長を有するユニーク分子インデックスセットの生成およびエラー補正のための方法およびシステム |
| US11447818B2 (en) | 2017-09-15 | 2022-09-20 | Illumina, Inc. | Universal short adapters with variable length non-random unique molecular identifiers |
| ES2977793T3 (es) | 2017-11-08 | 2024-08-30 | Twinstrand Biosciences Inc | Reactivos y adaptadores para la secuenciación de ácidos nucleicos y métodos para fabricar dichos reactivos y adaptadores |
| US11639928B2 (en) * | 2018-02-22 | 2023-05-02 | 10X Genomics, Inc. | Methods and systems for characterizing analytes from individual cells or cell populations |
| CN112041462B (zh) * | 2018-03-23 | 2024-06-07 | 德克萨斯州立大学董事会 | 具有极低的错误水平的dsDNA有效测序 |
| WO2019238765A1 (en) | 2018-06-12 | 2019-12-19 | Keygene N.V. | Nucleic acid amplification method |
| CA3105659A1 (en) | 2018-07-12 | 2020-01-16 | Twinstrand Biosciences, Inc. | Methods and reagents for characterizing genomic editing, clonal expansion, and associated applications |
| AU2020204908A1 (en) * | 2019-01-04 | 2021-07-29 | William Marsh Rice University | Quantitative amplicon sequencing for multiplexed copy number variation detection and allele ratio quantitation |
| CN113474466A (zh) | 2019-02-21 | 2021-10-01 | 主基因有限公司 | 多倍体基因分型 |
| EP4028545A4 (en) * | 2019-09-09 | 2023-10-25 | Sherlock Biosciences, Inc. | System |
| EP4028585A1 (en) * | 2019-09-12 | 2022-07-20 | GlaxoSmithKline Intellectual Property Development Limited | Method for screening libraries |
| WO2022182682A1 (en) | 2021-02-23 | 2022-09-01 | 10X Genomics, Inc. | Probe-based analysis of nucleic acids and proteins |
| US20230348962A1 (en) * | 2021-11-04 | 2023-11-02 | Florida State University Research Foundation, Inc. | Using Hairpin Formation To Identify DNA and RNA Sequences Having A Target Nucleic Acid Sequence |
| 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 |
|---|---|---|---|---|
| US5242794A (en) | 1984-12-13 | 1993-09-07 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
| US4883750A (en) | 1984-12-13 | 1989-11-28 | Applied Biosystems, Inc. | Detection of specific sequences in nucleic acids |
| GB8612087D0 (en) | 1986-05-19 | 1986-06-25 | Ici Plc | Hybridisation probes |
| AU622426B2 (en) | 1987-12-11 | 1992-04-09 | Abbott Laboratories | 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 |
| DE68926504T2 (de) | 1988-07-20 | 1996-09-12 | 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 |
| AU635105B2 (en) | 1990-01-26 | 1993-03-11 | Abbott Laboratories | Improved 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 |
| DE69433010T2 (de) | 1993-04-12 | 2004-06-09 | Northwestern University, Evanston | Verfahren zur darstellung von oligonukleotiden |
| 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 |
| AU730633B2 (en) * | 1996-05-29 | 2001-03-08 | Phillip Belgrader | 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 |
| ATE236997T1 (de) | 1998-07-21 | 2003-04-15 | Keygene Nv | Verbesserte primer zur aflp amplifizierung |
| CA2339121A1 (en) | 1998-07-30 | 2000-02-10 | Shankar Balasubramanian | Arrayed biomolecules and their use in sequencing |
| GB0002310D0 (en) | 2000-02-01 | 2000-03-22 | Solexa Ltd | Polynucleotide sequencing |
| WO2000027521A1 (en) | 1998-11-06 | 2000-05-18 | Solexa Ltd. | A method for reproducing molecular arrays |
| AU3567900A (en) | 1999-03-30 | 2000-10-16 | 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 |
| CA2410950A1 (en) | 2000-05-30 | 2001-12-06 | Hans-Michael Wenz | Methods for detecting target nucleic acids using coupled ligation and amplification |
| JP2004524525A (ja) | 2001-01-30 | 2004-08-12 | ソレックサ リミテッド | ポリヌクレオチドアレイの調製 |
| EP1417475A4 (en) | 2001-07-06 | 2006-06-28 | 454 Corp | METHOD FOR ISOLATING INDEPENDENT, PARALLEL CHEMICAL MICRORE ACTIONS 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 |
| US20060088826A1 (en) * | 2001-12-28 | 2006-04-27 | Van Eijk Michael Josephus Ther | Discrimination and detection of target nucleotide sequences using mass spectrometry |
| DE60327649D1 (de) | 2002-08-23 | 2009-06-25 | Illumina Cambridge Ltd | Markierte nukleotide |
| DK3002289T3 (en) | 2002-08-23 | 2018-04-23 | Illumina Cambridge Ltd | MODIFIED NUCLEOTIDES FOR POLYNUCLEOTIDE SEQUENCE |
| US20060094016A1 (en) | 2002-12-02 | 2006-05-04 | Niall Gormley | Determination of methylation of nucleic acid sequences |
| AU2004209426B2 (en) | 2003-01-29 | 2008-04-17 | 454 Life Sciences Corporation | Method for preparing single-stranded DNA libraries |
| 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 |
| DK1633888T3 (da) | 2003-06-17 | 2009-07-13 | Keygene Nv | Midler og fremgangsmåde til påvisning af målnucleotidsekvenser under anvendelse af ligeringsassays med forbedrede oligonucleotidprobepar |
| 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 |
| DK1664345T3 (da) | 2003-09-02 | 2015-06-22 | Keygene Nv | OLA-baserede fremgangsmåder til detektion af target-nukleinsyresekvenser |
| GB0326073D0 (en) | 2003-11-07 | 2003-12-10 | Solexa Ltd | Improvements in or relating to polynucleotide arrays |
| WO2005065814A1 (en) | 2004-01-07 | 2005-07-21 | Solexa Limited | 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 |
| EP3045544A1 (en) * | 2005-12-22 | 2016-07-20 | Keygene N.V. | Method for high-throughput aflp-based polymorphism detection |
| US20070196849A1 (en) * | 2006-02-22 | 2007-08-23 | Applera Corporation | Double-ligation Method for Haplotype and Large-scale Polymorphism Detection |
| WO2007100243A1 (en) * | 2006-03-01 | 2007-09-07 | Keygene N.V. | High throughput sequence-based detection of snps using ligation assays |
| WO2008076406A2 (en) | 2006-12-14 | 2008-06-26 | Ion Torrent Systems Incorporated | Methods and apparatus for measuring analytes using large scale fet arrays |
| US8349167B2 (en) | 2006-12-14 | 2013-01-08 | Life Technologies Corporation | Methods and apparatus for detecting molecular interactions using FET arrays |
| WO2009092035A2 (en) | 2008-01-17 | 2009-07-23 | Sequenom, Inc. | Methods and compositions for the analysis of biological molecules |
| EP2982437B1 (en) | 2008-06-25 | 2017-12-06 | Life Technologies Corporation | Methods and apparatus for measuring analytes using large scale fet arrays |
| WO2009158006A2 (en) | 2008-06-26 | 2009-12-30 | Ion Torrent Systems Incorporated | Methods and apparatus for detecting molecular interactions using fet arrays |
| US20100035252A1 (en) | 2008-08-08 | 2010-02-11 | Ion Torrent Systems Incorporated | Methods for sequencing individual nucleic acids under tension |
| US8546128B2 (en) | 2008-10-22 | 2013-10-01 | Life Technologies Corporation | Fluidics system for sequential delivery of reagents |
| 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 |
| 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 |
| WO2010126614A2 (en) | 2009-04-30 | 2010-11-04 | Good Start Genetics, Inc. | Methods and compositions for evaluating genetic markers |
| US8574835B2 (en) | 2009-05-29 | 2013-11-05 | Life Technologies Corporation | Scaffolded nucleic acid polymer particles and methods of making and using |
| US8673627B2 (en) | 2009-05-29 | 2014-03-18 | Life Technologies Corporation | Apparatus and methods for performing electrochemical reactions |
| EP3301104B1 (en) | 2009-05-29 | 2019-10-30 | 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 |
| CN103228796B (zh) | 2010-08-11 | 2016-06-01 | 赛路拉公司 | 基因分型dna |
| CA2836577C (en) | 2011-05-17 | 2019-06-25 | Dxterity Diagnostics Incorporated | Methods and compositions for detecting target nucleic acids |
| WO2013009175A1 (en) * | 2011-07-08 | 2013-01-17 | Keygene N.V. | Sequence based genotyping based on oligonucleotide ligation assays |
-
2012
- 2012-07-09 WO PCT/NL2012/050493 patent/WO2013009175A1/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 ES ES12738652.2T patent/ES2556580T3/es active Active
- 2012-07-09 DK DK12738652.2T patent/DK2729580T3/en active
- 2012-07-09 AU AU2012281242A patent/AU2012281242B2/en active Active
- 2012-07-09 CA CA2840929A patent/CA2840929C/en active Active
- 2012-07-09 JP JP2014518468A patent/JP6028025B2/ja 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 |
|---|---|
| US11873529B2 (en) | 2024-01-16 |
| AU2012281242B2 (en) | 2016-12-22 |
| US20140221217A1 (en) | 2014-08-07 |
| US9777322B2 (en) | 2017-10-03 |
| JP2014520525A (ja) | 2014-08-25 |
| CA2840929A1 (en) | 2013-01-17 |
| ES2556580T3 (es) | 2016-01-19 |
| US20200071757A1 (en) | 2020-03-05 |
| AU2012281242A1 (en) | 2014-02-27 |
| WO2013009175A1 (en) | 2013-01-17 |
| US20180023135A1 (en) | 2018-01-25 |
| US10422001B2 (en) | 2019-09-24 |
| US20210207213A1 (en) | 2021-07-08 |
| US10988807B2 (en) | 2021-04-27 |
| EP2980226A1 (en) | 2016-02-03 |
| CA2840929C (en) | 2020-03-24 |
| EP2729580A1 (en) | 2014-05-14 |
| EP2729580B1 (en) | 2015-09-16 |
| JP6028025B2 (ja) | 2016-11-16 |
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 |