JP2014507164A - ハプロタイプ決定のための方法およびシステム - Google Patents
ハプロタイプ決定のための方法およびシステム Download PDFInfo
- Publication number
- JP2014507164A JP2014507164A JP2013555620A JP2013555620A JP2014507164A JP 2014507164 A JP2014507164 A JP 2014507164A JP 2013555620 A JP2013555620 A JP 2013555620A JP 2013555620 A JP2013555620 A JP 2013555620A JP 2014507164 A JP2014507164 A JP 2014507164A
- Authority
- JP
- Japan
- Prior art keywords
- fractions
- nucleic acid
- haplotype
- allele
- sample
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Pending
Links
- 238000000034 method Methods 0.000 title claims abstract description 196
- 102000054766 genetic haplotypes Human genes 0.000 title claims abstract description 94
- 108700028369 Alleles Proteins 0.000 claims description 135
- 210000000349 chromosome Anatomy 0.000 claims description 95
- 238000012163 sequencing technique Methods 0.000 claims description 69
- 210000004027 cell Anatomy 0.000 claims description 64
- 150000007523 nucleic acids Chemical class 0.000 claims description 55
- 102000039446 nucleic acids Human genes 0.000 claims description 51
- 108020004707 nucleic acids Proteins 0.000 claims description 51
- 238000009826 distribution Methods 0.000 claims description 35
- 230000002759 chromosomal effect Effects 0.000 claims description 34
- 239000002773 nucleotide Substances 0.000 claims description 33
- 125000003729 nucleotide group Chemical group 0.000 claims description 33
- 238000002493 microarray Methods 0.000 claims description 27
- 238000003205 genotyping method Methods 0.000 claims description 26
- 239000012634 fragment Substances 0.000 claims description 22
- 230000008774 maternal effect Effects 0.000 claims description 19
- 230000008775 paternal effect Effects 0.000 claims description 18
- 238000010208 microarray analysis Methods 0.000 claims description 12
- 238000004458 analytical method Methods 0.000 claims description 11
- 238000003753 real-time PCR Methods 0.000 claims description 11
- 241000124008 Mammalia Species 0.000 claims description 9
- 102000054765 polymorphisms of proteins Human genes 0.000 claims description 9
- 230000031864 metaphase Effects 0.000 claims description 6
- 238000012217 deletion Methods 0.000 claims description 5
- 230000037430 deletion Effects 0.000 claims description 5
- 238000003780 insertion Methods 0.000 claims description 5
- 230000037431 insertion Effects 0.000 claims description 5
- 230000001360 synchronised effect Effects 0.000 claims description 5
- 238000003203 nucleic acid sequencing method Methods 0.000 claims description 4
- 239000000061 acid fraction Substances 0.000 claims 3
- 239000012472 biological sample Substances 0.000 abstract description 8
- 239000000523 sample Substances 0.000 description 130
- 108020004414 DNA Proteins 0.000 description 48
- 108090000623 proteins and genes Proteins 0.000 description 40
- 230000003321 amplification Effects 0.000 description 32
- 238000003199 nucleic acid amplification method Methods 0.000 description 32
- 238000003752 polymerase chain reaction Methods 0.000 description 28
- 238000003556 assay Methods 0.000 description 26
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 26
- 102000004169 proteins and genes Human genes 0.000 description 25
- 201000010099 disease Diseases 0.000 description 23
- 238000002360 preparation method Methods 0.000 description 19
- 239000000047 product Substances 0.000 description 17
- 241000196324 Embryophyta Species 0.000 description 15
- 238000005516 engineering process Methods 0.000 description 13
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 12
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 12
- 239000011324 bead Substances 0.000 description 12
- 238000011160 research Methods 0.000 description 12
- 230000000903 blocking effect Effects 0.000 description 10
- 239000000758 substrate Substances 0.000 description 10
- 238000001514 detection method Methods 0.000 description 9
- 238000009396 hybridization Methods 0.000 description 9
- 210000001519 tissue Anatomy 0.000 description 9
- 102000010645 MutS Proteins Human genes 0.000 description 8
- 108010038272 MutS Proteins Proteins 0.000 description 8
- 239000000839 emulsion Substances 0.000 description 8
- 230000002068 genetic effect Effects 0.000 description 8
- 239000000203 mixture Substances 0.000 description 8
- 238000007481 next generation sequencing Methods 0.000 description 8
- 238000006243 chemical reaction Methods 0.000 description 7
- 230000002596 correlated effect Effects 0.000 description 7
- 108091033319 polynucleotide Proteins 0.000 description 7
- 239000002157 polynucleotide Substances 0.000 description 7
- 102000040430 polynucleotide Human genes 0.000 description 7
- XLYOFNOQVPJJNP-UHFFFAOYSA-N water Substances O XLYOFNOQVPJJNP-UHFFFAOYSA-N 0.000 description 7
- 102000004190 Enzymes Human genes 0.000 description 6
- 108090000790 Enzymes Proteins 0.000 description 6
- 108091028043 Nucleic acid sequence Proteins 0.000 description 6
- 239000000872 buffer Substances 0.000 description 6
- 230000015556 catabolic process Effects 0.000 description 6
- 230000000295 complement effect Effects 0.000 description 6
- 238000006731 degradation reaction Methods 0.000 description 6
- 230000036541 health Effects 0.000 description 6
- 239000011807 nanoball Substances 0.000 description 6
- 239000007787 solid Substances 0.000 description 6
- 241001465754 Metazoa Species 0.000 description 5
- 206010028980 Neoplasm Diseases 0.000 description 5
- 230000008901 benefit Effects 0.000 description 5
- 201000011510 cancer Diseases 0.000 description 5
- 238000010367 cloning Methods 0.000 description 5
- 238000010790 dilution Methods 0.000 description 5
- 239000012895 dilution Substances 0.000 description 5
- 239000012530 fluid Substances 0.000 description 5
- 239000000463 material Substances 0.000 description 5
- 230000035772 mutation Effects 0.000 description 5
- 108091093088 Amplicon Proteins 0.000 description 4
- 102000053602 DNA Human genes 0.000 description 4
- 108091027305 Heteroduplex Proteins 0.000 description 4
- 241000700605 Viruses Species 0.000 description 4
- 238000012512 characterization method Methods 0.000 description 4
- 238000006073 displacement reaction Methods 0.000 description 4
- 238000011143 downstream manufacturing Methods 0.000 description 4
- 239000003814 drug Substances 0.000 description 4
- 238000005259 measurement Methods 0.000 description 4
- 238000012986 modification Methods 0.000 description 4
- 230000004048 modification Effects 0.000 description 4
- 210000000056 organ Anatomy 0.000 description 4
- 238000012360 testing method Methods 0.000 description 4
- 206010013801 Duchenne Muscular Dystrophy Diseases 0.000 description 3
- 108091034117 Oligonucleotide Proteins 0.000 description 3
- 238000012408 PCR amplification Methods 0.000 description 3
- 206010052779 Transplant rejections Diseases 0.000 description 3
- 238000003491 array Methods 0.000 description 3
- 230000015572 biosynthetic process Effects 0.000 description 3
- 230000000875 corresponding effect Effects 0.000 description 3
- 238000007405 data analysis Methods 0.000 description 3
- 238000000354 decomposition reaction Methods 0.000 description 3
- 239000012470 diluted sample Substances 0.000 description 3
- 208000035475 disorder Diseases 0.000 description 3
- 101150015424 dmd gene Proteins 0.000 description 3
- 238000007876 drug discovery Methods 0.000 description 3
- 230000036267 drug metabolism Effects 0.000 description 3
- 238000002955 isolation Methods 0.000 description 3
- 230000001293 nucleolytic effect Effects 0.000 description 3
- 238000012856 packing Methods 0.000 description 3
- 229920000642 polymer Polymers 0.000 description 3
- 238000012545 processing Methods 0.000 description 3
- 108091008146 restriction endonucleases Proteins 0.000 description 3
- 230000035945 sensitivity Effects 0.000 description 3
- 238000010189 synthetic method Methods 0.000 description 3
- 108091028732 Concatemer Proteins 0.000 description 2
- 230000004568 DNA-binding Effects 0.000 description 2
- 241000282412 Homo Species 0.000 description 2
- 208000006937 Hydatidiform mole Diseases 0.000 description 2
- 108091092878 Microsatellite Proteins 0.000 description 2
- 238000012300 Sequence Analysis Methods 0.000 description 2
- VYPSYNLAJGMNEJ-UHFFFAOYSA-N Silicium dioxide Chemical compound O=[Si]=O VYPSYNLAJGMNEJ-UHFFFAOYSA-N 0.000 description 2
- 108020004682 Single-Stranded DNA Proteins 0.000 description 2
- 210000001766 X chromosome Anatomy 0.000 description 2
- 238000013459 approach Methods 0.000 description 2
- 210000004436 artificial bacterial chromosome Anatomy 0.000 description 2
- 210000001106 artificial yeast chromosome Anatomy 0.000 description 2
- 230000009286 beneficial effect Effects 0.000 description 2
- 239000012148 binding buffer Substances 0.000 description 2
- 210000004369 blood Anatomy 0.000 description 2
- 239000008280 blood Substances 0.000 description 2
- 210000001124 body fluid Anatomy 0.000 description 2
- 239000010839 body fluid Substances 0.000 description 2
- 239000003153 chemical reaction reagent Substances 0.000 description 2
- 238000003745 diagnosis Methods 0.000 description 2
- 238000003113 dilution method Methods 0.000 description 2
- 230000007613 environmental effect Effects 0.000 description 2
- 238000011049 filling Methods 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
- 150000002500 ions Chemical class 0.000 description 2
- 238000004020 luminiscence type Methods 0.000 description 2
- 210000000723 mammalian artificial chromosome Anatomy 0.000 description 2
- 230000007246 mechanism Effects 0.000 description 2
- 208000024191 minimally invasive lung adenocarcinoma Diseases 0.000 description 2
- 238000010369 molecular cloning Methods 0.000 description 2
- 238000009828 non-uniform distribution Methods 0.000 description 2
- 239000002245 particle Substances 0.000 description 2
- 238000004393 prognosis Methods 0.000 description 2
- 239000000376 reactant Substances 0.000 description 2
- 239000011535 reaction buffer Substances 0.000 description 2
- 230000006798 recombination Effects 0.000 description 2
- 238000005215 recombination Methods 0.000 description 2
- 238000005096 rolling process Methods 0.000 description 2
- 208000007056 sickle cell anemia Diseases 0.000 description 2
- 239000000243 solution Substances 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 239000007858 starting material Substances 0.000 description 2
- 239000012089 stop solution Substances 0.000 description 2
- 238000003786 synthesis reaction Methods 0.000 description 2
- 238000002054 transplantation Methods 0.000 description 2
- 241000589155 Agrobacterium tumefaciens Species 0.000 description 1
- 241000271566 Aves Species 0.000 description 1
- 241000894006 Bacteria Species 0.000 description 1
- 206010004272 Benign hydatidiform mole Diseases 0.000 description 1
- 241000283690 Bos taurus Species 0.000 description 1
- 101000912561 Bos taurus Fibrinogen gamma-B chain Proteins 0.000 description 1
- 241000282472 Canis lupus familiaris Species 0.000 description 1
- 241000283707 Capra Species 0.000 description 1
- 108091026890 Coding region Proteins 0.000 description 1
- 101710099953 DNA mismatch repair protein msh3 Proteins 0.000 description 1
- 102000002322 Egg Proteins Human genes 0.000 description 1
- 108010000912 Egg Proteins Proteins 0.000 description 1
- 241000283086 Equidae Species 0.000 description 1
- 241000702189 Escherichia virus Mu Species 0.000 description 1
- 241000206602 Eukaryota Species 0.000 description 1
- 241000282326 Felis catus Species 0.000 description 1
- 241000233866 Fungi Species 0.000 description 1
- 108091092584 GDNA Proteins 0.000 description 1
- 108700039691 Genetic Promoter Regions Proteins 0.000 description 1
- 208000009329 Graft vs Host Disease Diseases 0.000 description 1
- 102100028972 HLA class I histocompatibility antigen, A alpha chain Human genes 0.000 description 1
- 102100028976 HLA class I histocompatibility antigen, B alpha chain Human genes 0.000 description 1
- 102100028971 HLA class I histocompatibility antigen, C alpha chain Human genes 0.000 description 1
- 102100036242 HLA class II histocompatibility antigen, DQ alpha 2 chain Human genes 0.000 description 1
- 102100036241 HLA class II histocompatibility antigen, DQ beta 1 chain Human genes 0.000 description 1
- 102100040485 HLA class II histocompatibility antigen, DRB1 beta chain Human genes 0.000 description 1
- 108010075704 HLA-A Antigens Proteins 0.000 description 1
- 108010058607 HLA-B Antigens Proteins 0.000 description 1
- 108010052199 HLA-C Antigens Proteins 0.000 description 1
- 108010086786 HLA-DQA1 antigen Proteins 0.000 description 1
- 108010065026 HLA-DQB1 antigen Proteins 0.000 description 1
- 108010039343 HLA-DRB1 Chains Proteins 0.000 description 1
- 102100021519 Hemoglobin subunit beta Human genes 0.000 description 1
- 108091005904 Hemoglobin subunit beta Proteins 0.000 description 1
- 208000026350 Inborn Genetic disease Diseases 0.000 description 1
- 102000003814 Interleukin-10 Human genes 0.000 description 1
- 108090000174 Interleukin-10 Proteins 0.000 description 1
- 108091092195 Intron Proteins 0.000 description 1
- 102000003960 Ligases Human genes 0.000 description 1
- 108090000364 Ligases Proteins 0.000 description 1
- 241000721701 Lynx Species 0.000 description 1
- 108700018351 Major Histocompatibility Complex Proteins 0.000 description 1
- 101001024425 Mus musculus Ig gamma-2A chain C region secreted form Proteins 0.000 description 1
- 108700026244 Open Reading Frames Proteins 0.000 description 1
- 241000283973 Oryctolagus cuniculus Species 0.000 description 1
- 238000010222 PCR analysis Methods 0.000 description 1
- 241001494479 Pecora Species 0.000 description 1
- 206010036790 Productive cough Diseases 0.000 description 1
- 108020004511 Recombinant DNA Proteins 0.000 description 1
- 241000283984 Rodentia Species 0.000 description 1
- 241000282849 Ruminantia Species 0.000 description 1
- 108010090804 Streptavidin Proteins 0.000 description 1
- 241000282887 Suidae Species 0.000 description 1
- RTAQQCXQSZGOHL-UHFFFAOYSA-N Titanium Chemical compound [Ti] RTAQQCXQSZGOHL-UHFFFAOYSA-N 0.000 description 1
- 241000251539 Vertebrata <Metazoa> Species 0.000 description 1
- 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 1
- 230000005856 abnormality Effects 0.000 description 1
- 239000002253 acid Substances 0.000 description 1
- 238000007844 allele-specific PCR Methods 0.000 description 1
- 210000004102 animal cell Anatomy 0.000 description 1
- 238000000137 annealing Methods 0.000 description 1
- 239000000427 antigen Substances 0.000 description 1
- 108091007433 antigens Proteins 0.000 description 1
- 102000036639 antigens Human genes 0.000 description 1
- 238000000429 assembly Methods 0.000 description 1
- 230000000712 assembly Effects 0.000 description 1
- 238000007846 asymmetric PCR Methods 0.000 description 1
- 230000027455 binding Effects 0.000 description 1
- 238000001574 biopsy Methods 0.000 description 1
- 229960002685 biotin Drugs 0.000 description 1
- 239000011616 biotin Substances 0.000 description 1
- 239000010836 blood and blood product Substances 0.000 description 1
- 229940125691 blood product Drugs 0.000 description 1
- 238000009395 breeding Methods 0.000 description 1
- 230000001488 breeding effect Effects 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- 238000004113 cell culture Methods 0.000 description 1
- 230000008859 change Effects 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 238000003776 cleavage reaction Methods 0.000 description 1
- 239000000356 contaminant Substances 0.000 description 1
- 238000007796 conventional method Methods 0.000 description 1
- -1 cost and effort (eg Substances 0.000 description 1
- 230000002380 cytological effect Effects 0.000 description 1
- 238000013480 data collection Methods 0.000 description 1
- 230000007423 decrease Effects 0.000 description 1
- 238000004925 denaturation Methods 0.000 description 1
- 230000036425 denaturation Effects 0.000 description 1
- 238000013461 design Methods 0.000 description 1
- 230000029087 digestion Effects 0.000 description 1
- 229940079593 drug Drugs 0.000 description 1
- 235000013601 eggs Nutrition 0.000 description 1
- 230000001973 epigenetic effect Effects 0.000 description 1
- 238000002474 experimental method Methods 0.000 description 1
- 238000000605 extraction Methods 0.000 description 1
- 238000001917 fluorescence detection Methods 0.000 description 1
- 238000001943 fluorescence-activated cell sorting Methods 0.000 description 1
- 239000007850 fluorescent dye Substances 0.000 description 1
- 238000005194 fractionation Methods 0.000 description 1
- 108020001507 fusion proteins Proteins 0.000 description 1
- 102000037865 fusion proteins Human genes 0.000 description 1
- 208000016361 genetic disease Diseases 0.000 description 1
- 238000012268 genome sequencing Methods 0.000 description 1
- 201000007116 gestational trophoblastic neoplasm Diseases 0.000 description 1
- 208000024908 graft versus host disease Diseases 0.000 description 1
- 238000012203 high throughput assay Methods 0.000 description 1
- 238000012165 high-throughput sequencing Methods 0.000 description 1
- 238000011534 incubation Methods 0.000 description 1
- 239000004615 ingredient Substances 0.000 description 1
- 238000007641 inkjet printing Methods 0.000 description 1
- 230000003993 interaction Effects 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 238000012177 large-scale sequencing Methods 0.000 description 1
- 210000000265 leukocyte Anatomy 0.000 description 1
- 244000144972 livestock Species 0.000 description 1
- 238000011068 loading method Methods 0.000 description 1
- 235000019689 luncheon sausage Nutrition 0.000 description 1
- 238000004519 manufacturing process Methods 0.000 description 1
- 238000000691 measurement method Methods 0.000 description 1
- MYWUZJCMWCOHBA-VIFPVBQESA-N methamphetamine Chemical compound CN[C@@H](C)CC1=CC=CC=C1 MYWUZJCMWCOHBA-VIFPVBQESA-N 0.000 description 1
- 230000011987 methylation Effects 0.000 description 1
- 238000007069 methylation reaction Methods 0.000 description 1
- 239000002105 nanoparticle Substances 0.000 description 1
- 239000013642 negative control Substances 0.000 description 1
- 238000003499 nucleic acid array Methods 0.000 description 1
- 238000002515 oligonucleotide synthesis Methods 0.000 description 1
- 210000004681 ovum Anatomy 0.000 description 1
- 239000013612 plasmid Substances 0.000 description 1
- 238000011176 pooling Methods 0.000 description 1
- 239000012264 purified product Substances 0.000 description 1
- 238000011002 quantification Methods 0.000 description 1
- 238000011084 recovery Methods 0.000 description 1
- 230000001105 regulatory effect Effects 0.000 description 1
- 230000010076 replication Effects 0.000 description 1
- 230000002441 reversible effect Effects 0.000 description 1
- 238000012552 review Methods 0.000 description 1
- 150000003839 salts Chemical class 0.000 description 1
- 238000005464 sample preparation method Methods 0.000 description 1
- 230000007017 scission Effects 0.000 description 1
- 238000007790 scraping Methods 0.000 description 1
- 238000000926 separation method Methods 0.000 description 1
- 238000007841 sequencing by ligation Methods 0.000 description 1
- 239000000377 silicon dioxide Substances 0.000 description 1
- 210000003802 sputum Anatomy 0.000 description 1
- 208000024794 sputum Diseases 0.000 description 1
- 238000010561 standard procedure Methods 0.000 description 1
- 239000000126 substance Substances 0.000 description 1
- 230000020382 suppression by virus of host antigen processing and presentation of peptide antigen via MHC class I Effects 0.000 description 1
- 230000008685 targeting Effects 0.000 description 1
- 229910052719 titanium Inorganic materials 0.000 description 1
- 239000010936 titanium Substances 0.000 description 1
- 230000005945 translocation Effects 0.000 description 1
- 230000017105 transposition Effects 0.000 description 1
- 210000002700 urine Anatomy 0.000 description 1
- 239000007762 w/o emulsion Substances 0.000 description 1
Images
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
- C12Q1/6876—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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6851—Quantitative amplification
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/6858—Allele-specific amplification
-
- 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
- C12Q2565/00—Nucleic acid analysis characterised by mode or means of detection
- C12Q2565/50—Detection characterised by immobilisation to a surface
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Organic Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Microbiology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Immunology (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161446890P | 2011-02-25 | 2011-02-25 | |
| US61/446,890 | 2011-02-25 | ||
| US201161509960P | 2011-07-20 | 2011-07-20 | |
| US61/509,960 | 2011-07-20 | ||
| PCT/US2012/026623 WO2012116331A2 (en) | 2011-02-25 | 2012-02-24 | Methods and systems for haplotype determination |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2014507164A true JP2014507164A (ja) | 2014-03-27 |
| JP2014507164A5 JP2014507164A5 (https=) | 2015-04-09 |
Family
ID=46721484
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2013555620A Pending JP2014507164A (ja) | 2011-02-25 | 2012-02-24 | ハプロタイプ決定のための方法およびシステム |
Country Status (7)
| Country | Link |
|---|---|
| US (1) | US20140045706A1 (https=) |
| EP (1) | EP2678449A4 (https=) |
| JP (1) | JP2014507164A (https=) |
| CN (1) | CN103492588A (https=) |
| AU (1) | AU2012222108A1 (https=) |
| CA (1) | CA2824431A1 (https=) |
| WO (1) | WO2012116331A2 (https=) |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2017533722A (ja) * | 2014-11-14 | 2017-11-16 | アテナ ダイアグナスティクス，インコーポレイテッド | サイレントキャリア遺伝子型を検出する方法 |
Families Citing this family (86)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| AU2012214312A1 (en) | 2011-02-09 | 2013-08-22 | Bio-Rad Laboratories, Inc. | Analysis of nucleic acids |
| US10323279B2 (en) | 2012-08-14 | 2019-06-18 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| CA3216609C (en) | 2012-08-14 | 2024-05-14 | 10X Genomics, Inc. | Microcapsule compositions and methods |
| US9951386B2 (en) | 2014-06-26 | 2018-04-24 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10584381B2 (en) | 2012-08-14 | 2020-03-10 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US9701998B2 (en) | 2012-12-14 | 2017-07-11 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US11591637B2 (en) | 2012-08-14 | 2023-02-28 | 10X Genomics, Inc. | Compositions and methods for sample processing |
| US10752949B2 (en) | 2012-08-14 | 2020-08-25 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10533221B2 (en) | 2012-12-14 | 2020-01-14 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US9411930B2 (en) * | 2013-02-01 | 2016-08-09 | The Regents Of The University Of California | Methods for genome assembly and haplotype phasing |
| AU2014214682B2 (en) | 2013-02-08 | 2018-07-26 | 10X Genomics, Inc. | Polynucleotide barcode generation |
| US10395758B2 (en) | 2013-08-30 | 2019-08-27 | 10X Genomics, Inc. | Sequencing methods |
| KR20160081896A (ko) | 2013-08-30 | 2016-07-08 | 일루미나, 인코포레이티드 | 친수성 또는 다양한-친수성 표면 상에서의 액적의 조작 |
| EP3068783B1 (en) | 2013-11-15 | 2020-09-23 | The Board of Trustees of the Leland Stanford Junior University | Agonists of hypocretin receptor 2 for use for treating heart failure |
| US9824068B2 (en) | 2013-12-16 | 2017-11-21 | 10X Genomics, Inc. | Methods and apparatus for sorting data |
| WO2015157567A1 (en) | 2014-04-10 | 2015-10-15 | 10X Genomics, Inc. | Fluidic devices, systems, and methods for encapsulating and partitioning reagents, and applications of same |
| JP2017526046A (ja) | 2014-06-26 | 2017-09-07 | １０エックス ゲノミクス，インコーポレイテッド | 核酸配列アセンブルのプロセス及びシステム |
| US12312640B2 (en) | 2014-06-26 | 2025-05-27 | 10X Genomics, Inc. | Analysis of nucleic acid sequences |
| MX2016016904A (es) | 2014-06-26 | 2017-03-27 | 10X Genomics Inc | Analisis de secuencias de acidos nucleicos. |
| CN113249435B (zh) | 2014-06-26 | 2024-09-03 | 10X基因组学有限公司 | 分析来自单个细胞或细胞群体的核酸的方法 |
| CA2956925C (en) | 2014-08-01 | 2024-02-13 | Dovetail Genomics, Llc | Tagging nucleic acids for sequence assembly |
| KR102068451B1 (ko) | 2014-09-03 | 2020-01-20 | 난트헬쓰, 인코포레이티드 | 합성 게놈 변형-기반의 보안 트랜잭션 디바이스들, 시스템들 및 방법들 |
| SG11201705615UA (en) | 2015-01-12 | 2017-08-30 | 10X Genomics Inc | Processes and systems for preparing nucleic acid sequencing libraries and libraries prepared using same |
| EP3245605B1 (en) | 2015-01-13 | 2022-04-20 | 10X Genomics, Inc. | Systems and methods for visualizing structural variation and phasing information |
| WO2016130578A1 (en) | 2015-02-09 | 2016-08-18 | 10X Genomics, Inc. | Systems and methods for determining structural variation and phasing using variant call data |
| US20160298114A1 (en) * | 2015-03-18 | 2016-10-13 | The Board Of Trustees Of The Leland Stanford Junior University | Haplotype Based Generalizable Allele Specific Silencing for Therapy of Cardiovascular Disease |
| US11807896B2 (en) | 2015-03-26 | 2023-11-07 | Dovetail Genomics, Llc | Physical linkage preservation in DNA storage |
| CN105046105B (zh) * | 2015-07-09 | 2018-02-02 | 天津诺禾医学检验所有限公司 | 染色体跨度的单体型图及其构建方法 |
| CN105385755A (zh) * | 2015-11-05 | 2016-03-09 | 上海序康医疗科技有限公司 | 一种利用多重pcr技术进行snp-单体型分析的方法 |
| US11371094B2 (en) | 2015-11-19 | 2022-06-28 | 10X Genomics, Inc. | Systems and methods for nucleic acid processing using degenerate nucleotides |
| JP6735348B2 (ja) | 2016-02-11 | 2020-08-05 | １０エックス ジェノミクス， インコーポレイテッド | 全ゲノム配列データのデノボアセンブリのためのシステム、方法及び媒体 |
| JP7441003B2 (ja) | 2016-02-23 | 2024-02-29 | ダブテイル ゲノミクス エルエルシー | ゲノムアセンブリのためのフェージングされたリードセットの生成とハプロタイプフェージング |
| WO2017197300A1 (en) | 2016-05-13 | 2017-11-16 | Dovetail Genomics Llc | Recovering long-range linkage information from preserved samples |
| KR101815529B1 (ko) * | 2016-07-29 | 2018-01-30 | (주)신테카바이오 | 휴먼 하플로타이핑 시스템 및 방법 |
| US10815525B2 (en) | 2016-12-22 | 2020-10-27 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10550429B2 (en) | 2016-12-22 | 2020-02-04 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US10011872B1 (en) | 2016-12-22 | 2018-07-03 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US12264411B2 (en) | 2017-01-30 | 2025-04-01 | 10X Genomics, Inc. | Methods and systems for analysis |
| CN110214186B (zh) | 2017-01-30 | 2023-11-24 | 10X基因组学有限公司 | 用于基于微滴的单细胞条形编码的方法和系统 |
| US10995333B2 (en) | 2017-02-06 | 2021-05-04 | 10X Genomics, Inc. | Systems and methods for nucleic acid preparation |
| EP3625715A4 (en) | 2017-05-19 | 2021-03-17 | 10X Genomics, Inc. | DATA SET ANALYSIS SYSTEMS AND METHODS |
| US10837047B2 (en) | 2017-10-04 | 2020-11-17 | 10X Genomics, Inc. | Compositions, methods, and systems for bead formation using improved polymers |
| WO2019084043A1 (en) | 2017-10-26 | 2019-05-02 | 10X Genomics, Inc. | METHODS AND SYSTEMS FOR NUCLEIC ACID PREPARATION AND CHROMATIN ANALYSIS |
| CN114525273B (zh) | 2017-10-27 | 2025-01-28 | 10X基因组学有限公司 | 用于样品制备和分析的方法和系统 |
| EP3954782A1 (en) | 2017-11-15 | 2022-02-16 | 10X Genomics, Inc. | Functionalized gel beads |
| US10829815B2 (en) | 2017-11-17 | 2020-11-10 | 10X Genomics, Inc. | Methods and systems for associating physical and genetic properties of biological particles |
| WO2019108851A1 (en) | 2017-11-30 | 2019-06-06 | 10X Genomics, Inc. | Systems and methods for nucleic acid preparation and analysis |
| CN118818037A (zh) | 2017-12-12 | 2024-10-22 | 10X基因组学有限公司 | 用于单细胞处理的系统和方法 |
| CN118547046A (zh) | 2017-12-22 | 2024-08-27 | 10X基因组学有限公司 | 用于处理来自一个或多个细胞的核酸分子的系统和方法 |
| WO2019152543A1 (en) | 2018-01-31 | 2019-08-08 | Dovetail Genomics, Llc | Sample prep for dna linkage recovery |
| WO2019157529A1 (en) | 2018-02-12 | 2019-08-15 | 10X Genomics, Inc. | Methods characterizing multiple analytes from individual cells or cell populations |
| US11639928B2 (en) | 2018-02-22 | 2023-05-02 | 10X Genomics, Inc. | Methods and systems for characterizing analytes from individual cells or cell populations |
| WO2019169028A1 (en) | 2018-02-28 | 2019-09-06 | 10X Genomics, Inc. | Transcriptome sequencing through random ligation |
| CN112262218B (zh) | 2018-04-06 | 2024-11-08 | 10X基因组学有限公司 | 用于单细胞处理中的质量控制的系统和方法 |
| WO2019217758A1 (en) | 2018-05-10 | 2019-11-14 | 10X Genomics, Inc. | Methods and systems for molecular library generation |
| US11932899B2 (en) | 2018-06-07 | 2024-03-19 | 10X Genomics, Inc. | Methods and systems for characterizing nucleic acid molecules |
| US11703427B2 (en) | 2018-06-25 | 2023-07-18 | 10X Genomics, Inc. | Methods and systems for cell and bead processing |
| US12188014B1 (en) | 2018-07-25 | 2025-01-07 | 10X Genomics, Inc. | Compositions and methods for nucleic acid processing using blocking agents |
| US20200032335A1 (en) | 2018-07-27 | 2020-01-30 | 10X Genomics, Inc. | Systems and methods for metabolome analysis |
| EP3830289B1 (en) | 2018-08-03 | 2026-02-11 | 10X Genomics, Inc. | Methods to minimize barcode exchange |
| WO2020041148A1 (en) | 2018-08-20 | 2020-02-27 | 10X Genomics, Inc. | Methods and systems for detection of protein-dna interactions using proximity ligation |
| US12065688B2 (en) | 2018-08-20 | 2024-08-20 | 10X Genomics, Inc. | Compositions and methods for cellular processing |
| US11459607B1 (en) | 2018-12-10 | 2022-10-04 | 10X Genomics, Inc. | Systems and methods for processing-nucleic acid molecules from a single cell using sequential co-partitioning and composite barcodes |
| US12169198B2 (en) | 2019-01-08 | 2024-12-17 | 10X Genomics, Inc. | Systems and methods for sample analysis |
| US11845983B1 (en) | 2019-01-09 | 2023-12-19 | 10X Genomics, Inc. | Methods and systems for multiplexing of droplet based assays |
| US12275993B2 (en) | 2019-02-12 | 2025-04-15 | 10X Genomics, Inc. | Analysis of nucleic acid sequences |
| SG11202108788TA (en) | 2019-02-12 | 2021-09-29 | 10X Genomics Inc | Methods for processing nucleic acid molecules |
| WO2020167862A1 (en) | 2019-02-12 | 2020-08-20 | 10X Genomics, Inc. | Systems and methods for transfer of reagents between droplets |
| US11851683B1 (en) | 2019-02-12 | 2023-12-26 | 10X Genomics, Inc. | Methods and systems for selective analysis of cellular samples |
| WO2020167866A1 (en) | 2019-02-12 | 2020-08-20 | 10X Genomics, Inc. | Systems and methods for transposon loading |
| US12305239B2 (en) | 2019-02-12 | 2025-05-20 | 10X Genomics, Inc. | Analysis of nucleic acid sequences |
| US11467153B2 (en) | 2019-02-12 | 2022-10-11 | 10X Genomics, Inc. | Methods for processing nucleic acid molecules |
| US11655499B1 (en) | 2019-02-25 | 2023-05-23 | 10X Genomics, Inc. | Detection of sequence elements in nucleic acid molecules |
| CN113767178A (zh) | 2019-03-11 | 2021-12-07 | 10X基因组学有限公司 | 用于处理光学标签化珠粒的系统和方法 |
| CN113811619A (zh) | 2019-03-27 | 2021-12-17 | 10X基因组学有限公司 | 用于处理来自细胞的rna的系统和方法 |
| US12235262B1 (en) | 2019-09-09 | 2025-02-25 | 10X Genomics, Inc. | Methods and systems for single cell protein analysis |
| US12449419B1 (en) | 2020-02-12 | 2025-10-21 | 10X Genomics, Inc. | Methods for detecting binding of peptide-MHC monomers to T cells |
| CN115428088A (zh) | 2020-02-13 | 2022-12-02 | 10X基因组学有限公司 | 用于基因表达和dna染色质可及性的联合交互式可视化的系统和方法 |
| US11851700B1 (en) | 2020-05-13 | 2023-12-26 | 10X Genomics, Inc. | Methods, kits, and compositions for processing extracellular molecules |
| US12084715B1 (en) | 2020-11-05 | 2024-09-10 | 10X Genomics, Inc. | Methods and systems for reducing artifactual antisense products |
| US12480158B1 (en) | 2020-11-05 | 2025-11-25 | 10X Genomics, Inc. | Methods and systems for processing polynucleotides |
| US12398262B1 (en) | 2021-01-22 | 2025-08-26 | 10X Genomics, Inc. | Triblock copolymer-based cell stabilization and fixation system and methods of use thereof |
| CN120158497A (zh) | 2021-02-23 | 2025-06-17 | 10X基因组学有限公司 | 基于探针的核酸和蛋白质分析 |
| CN112795563A (zh) * | 2021-03-23 | 2021-05-14 | 上海欣百诺生物科技有限公司 | 生物素化的转座体在回收CUT&Tag或ATAC-seq产物中的用途及方法 |
| CA3252346A1 (en) | 2022-05-11 | 2023-11-16 | Provincial Health Services Authority | METHOD AND APPARATUS FOR DETECTING THE DISEASE ALLELE IN THE ORIGINAL PARENT FOR THE DIAGNOSIS AND MANAGEMENT OF GENETIC DISEASES |
| CN115992261B (zh) * | 2022-12-13 | 2025-06-24 | 中国科学院海洋研究所 | 一种构建牡蛎单倍型基因组的方法 |
Citations (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2004065617A2 (en) * | 2003-01-17 | 2004-08-05 | The Trustees Of Boston University | Haplotype analysis |
| WO2004081191A2 (en) * | 2003-03-12 | 2004-09-23 | Cleveland State University | Molecular haplotyping of genomic dna |
| US20040185453A1 (en) * | 2003-03-21 | 2004-09-23 | Joel Myerson | Affinity based methods for separating homologous parental genetic material and uses thereof |
| WO2010148039A2 (en) * | 2009-06-15 | 2010-12-23 | Complete Genomics, Inc. | Methods and compositions for long fragment read sequencing |
Family Cites Families (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20040146870A1 (en) * | 2003-01-27 | 2004-07-29 | Guochun Liao | Systems and methods for predicting specific genetic loci that affect phenotypic traits |
| WO2005082110A2 (en) * | 2004-02-26 | 2005-09-09 | Illumina Inc. | Haplotype markers for diagnosing susceptibility to immunological conditions |
| GB0523276D0 (en) * | 2005-11-15 | 2005-12-21 | London Bridge Fertility | Chromosomal analysis by molecular karyotyping |
| US8592150B2 (en) * | 2007-12-05 | 2013-11-26 | Complete Genomics, Inc. | Methods and compositions for long fragment read sequencing |
| CA2740205A1 (en) * | 2008-10-21 | 2010-04-22 | Morehouse School Of Medicine | Methods for haplotype determination by haplodissection |
-
2012
- 2012-02-24 CN CN201280010224.XA patent/CN103492588A/zh active Pending
- 2012-02-24 WO PCT/US2012/026623 patent/WO2012116331A2/en not_active Ceased
- 2012-02-24 EP EP12749706.3A patent/EP2678449A4/en not_active Withdrawn
- 2012-02-24 US US13/980,009 patent/US20140045706A1/en not_active Abandoned
- 2012-02-24 JP JP2013555620A patent/JP2014507164A/ja active Pending
- 2012-02-24 AU AU2012222108A patent/AU2012222108A1/en not_active Abandoned
- 2012-02-24 CA CA2824431A patent/CA2824431A1/en not_active Abandoned
Patent Citations (4)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2004065617A2 (en) * | 2003-01-17 | 2004-08-05 | The Trustees Of Boston University | Haplotype analysis |
| WO2004081191A2 (en) * | 2003-03-12 | 2004-09-23 | Cleveland State University | Molecular haplotyping of genomic dna |
| US20040185453A1 (en) * | 2003-03-21 | 2004-09-23 | Joel Myerson | Affinity based methods for separating homologous parental genetic material and uses thereof |
| WO2010148039A2 (en) * | 2009-06-15 | 2010-12-23 | Complete Genomics, Inc. | Methods and compositions for long fragment read sequencing |
Non-Patent Citations (5)
| Title |
|---|
| JPN6016002093; Ｂｉｏ Ｔｅｃｈｎｉｑｕｅｓ Ｖｏｌ．３８, 2005, ｐ．５５３-５５９ * |
| JPN6016002096; ＰＮＡＳ Ｖｏｌ．１００， Ｎｏ．１３, 2003, ｐ．７４４９-７４５３ * |
| JPN6016002098; ＰＮＡＳ Ｖｏｌ．８７, 1990, ｐ．６２９６-６３００ * |
| JPN6016002101; Ｎａｔｕｒｅ Ｂｉｏｔｅｃｈｎｏｌｏｇｙ Ｖｏｌ．２９， Ｎｏ．１, 201101, ｐ．５９-６３ * |
| JPN6016002102; Ｎｕｃｌｅｉｃ Ａｃｉｄｓ Ｒｅｓｅａｒｃｈ Ｖｏｌ．３５， Ｎｏ．１, 2007, ｅ６， ｐ．１-８ * |
Cited By (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP2017533722A (ja) * | 2014-11-14 | 2017-11-16 | アテナ ダイアグナスティクス，インコーポレイテッド | サイレントキャリア遺伝子型を検出する方法 |
| JP2020141707A (ja) * | 2014-11-14 | 2020-09-10 | アテナ ダイアグナスティクス，インコーポレイテッド | サイレントキャリア遺伝子型を検出する方法 |
| JP7108658B2 (ja) | 2014-11-14 | 2022-07-28 | アテナ ダイアグナスティクス，インコーポレイテッド | サイレントキャリア遺伝子型を検出する方法 |
| JP2024112825A (ja) * | 2014-11-14 | 2024-08-21 | アテナ ダイアグナスティクス，インコーポレイテッド | サイレントキャリア遺伝子型を検出する方法 |
| JP7723792B2 (ja) | 2014-11-14 | 2025-08-14 | アテナ ダイアグナスティクス，インコーポレイテッド | サイレントキャリア遺伝子型を検出する方法 |
Also Published As
| Publication number | Publication date |
|---|---|
| CN103492588A (zh) | 2014-01-01 |
| WO2012116331A2 (en) | 2012-08-30 |
| AU2012222108A1 (en) | 2013-07-18 |
| EP2678449A2 (en) | 2014-01-01 |
| CA2824431A1 (en) | 2012-08-30 |
| EP2678449A4 (en) | 2015-06-24 |
| US20140045706A1 (en) | 2014-02-13 |
| WO2012116331A3 (en) | 2013-03-07 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| JP2014507164A (ja) | ハプロタイプ決定のための方法およびシステム | |
| US20250305028A1 (en) | Tagging nucleic acids for sequence assembly | |
| AU2020202992B2 (en) | Methods for genome assembly and haplotype phasing | |
| US20150017635A1 (en) | Direct Capture, Amplification and Sequencing of Target DNA Using Immobilized Primers | |
| JP7653924B2 (ja) | 近接ライゲーションのための方法および組成物 | |
| US20160208240A1 (en) | Ngs workflow | |
| US20170137807A1 (en) | Improved ngs workflow | |
| HK1218433B (en) | Methods for genome assembly and haplotype phasing |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| A521 | Request for written amendment filed |
Free format text: JAPANESE INTERMEDIATE CODE: A523 Effective date: 20150217 |
|
| A621 | Written request for application examination |
Free format text: JAPANESE INTERMEDIATE CODE: A621 Effective date: 20150217 |
|
| A131 | Notification of reasons for refusal |
Free format text: JAPANESE INTERMEDIATE CODE: A131 Effective date: 20160126 |
|
| A02 | Decision of refusal |
Free format text: JAPANESE INTERMEDIATE CODE: A02 Effective date: 20160830 |