KR20140040697A - 쌍 말단 무작위 서열 기반 유전자형 판별 - Google Patents
쌍 말단 무작위 서열 기반 유전자형 판별 Download PDFInfo
- Publication number
- KR20140040697A KR20140040697A KR1020137021562A KR20137021562A KR20140040697A KR 20140040697 A KR20140040697 A KR 20140040697A KR 1020137021562 A KR1020137021562 A KR 1020137021562A KR 20137021562 A KR20137021562 A KR 20137021562A KR 20140040697 A KR20140040697 A KR 20140040697A
- Authority
- KR
- South Korea
- Prior art keywords
- restriction enzyme
- samples
- sequencing
- fragments
- sequence
- 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.)
- Withdrawn
Links
- 238000003205 genotyping method Methods 0.000 title claims abstract description 30
- 239000012634 fragment Substances 0.000 claims abstract description 68
- 238000000034 method Methods 0.000 claims abstract description 64
- 102000054765 polymorphisms of proteins Human genes 0.000 claims abstract description 13
- 238000001514 detection method Methods 0.000 claims abstract description 7
- 238000012165 high-throughput sequencing Methods 0.000 claims abstract description 4
- 230000027455 binding Effects 0.000 claims abstract description 3
- 108091008146 restriction endonucleases Proteins 0.000 claims description 66
- 238000012163 sequencing technique Methods 0.000 claims description 49
- 239000002773 nucleotide Substances 0.000 claims description 36
- 125000003729 nucleotide group Chemical group 0.000 claims description 36
- 230000009467 reduction Effects 0.000 claims description 14
- 230000000295 complement effect Effects 0.000 claims description 11
- 238000003776 cleavage reaction Methods 0.000 claims description 5
- 230000007017 scission Effects 0.000 claims description 5
- 238000012175 pyrosequencing Methods 0.000 claims description 4
- 238000007672 fourth generation sequencing Methods 0.000 claims description 2
- 238000000126 in silico method Methods 0.000 claims description 2
- 239000007787 solid Substances 0.000 claims description 2
- 239000012190 activator Substances 0.000 claims 1
- 238000012790 confirmation Methods 0.000 claims 1
- 238000007841 sequencing by ligation Methods 0.000 claims 1
- 230000003252 repetitive effect Effects 0.000 abstract description 9
- 230000002440 hepatic effect Effects 0.000 abstract 1
- 108020004414 DNA Proteins 0.000 description 32
- 239000000523 sample Substances 0.000 description 30
- 238000011176 pooling Methods 0.000 description 14
- 208000005652 acute fatty liver of pregnancy Diseases 0.000 description 11
- 150000007523 nucleic acids Chemical class 0.000 description 11
- 230000003321 amplification Effects 0.000 description 10
- 238000003199 nucleic acid amplification method Methods 0.000 description 10
- 102000039446 nucleic acids Human genes 0.000 description 10
- 108020004707 nucleic acids Proteins 0.000 description 10
- 241000219194 Arabidopsis Species 0.000 description 9
- 102000053602 DNA Human genes 0.000 description 7
- 108091028043 Nucleic acid sequence Proteins 0.000 description 7
- 238000007481 next generation sequencing Methods 0.000 description 7
- 108091034117 Oligonucleotide Proteins 0.000 description 6
- 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 6
- 238000003752 polymerase chain reaction Methods 0.000 description 6
- 238000004458 analytical method Methods 0.000 description 5
- 238000013459 approach Methods 0.000 description 5
- 201000010099 disease Diseases 0.000 description 5
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 5
- 230000002068 genetic effect Effects 0.000 description 5
- 108090000623 proteins and genes Proteins 0.000 description 5
- 238000003908 quality control method Methods 0.000 description 5
- 238000002869 basic local alignment search tool Methods 0.000 description 4
- 238000006243 chemical reaction Methods 0.000 description 4
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 4
- 238000001914 filtration Methods 0.000 description 4
- 230000004048 modification Effects 0.000 description 4
- 238000012986 modification Methods 0.000 description 4
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical compound CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 4
- 108010054576 Deoxyribonuclease EcoRI Proteins 0.000 description 3
- 102000004190 Enzymes Human genes 0.000 description 3
- 108090000790 Enzymes Proteins 0.000 description 3
- 101000757182 Saccharomyces cerevisiae Glucoamylase S2 Proteins 0.000 description 3
- 238000007796 conventional method Methods 0.000 description 3
- 239000003814 drug Substances 0.000 description 3
- 108700028369 Alleles Proteins 0.000 description 2
- 108091093088 Amplicon Proteins 0.000 description 2
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 2
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 2
- 101000836075 Homo sapiens Serpin B9 Proteins 0.000 description 2
- 101000661807 Homo sapiens Suppressor of tumorigenicity 14 protein Proteins 0.000 description 2
- 108091092878 Microsatellite Proteins 0.000 description 2
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 2
- 102100025517 Serpin B9 Human genes 0.000 description 2
- 230000015572 biosynthetic process Effects 0.000 description 2
- 210000003763 chloroplast Anatomy 0.000 description 2
- 229940104302 cytosine Drugs 0.000 description 2
- 238000012217 deletion Methods 0.000 description 2
- 230000037430 deletion Effects 0.000 description 2
- 230000007613 environmental effect Effects 0.000 description 2
- 238000012239 gene modification Methods 0.000 description 2
- 230000005017 genetic modification Effects 0.000 description 2
- 235000013617 genetically modified food Nutrition 0.000 description 2
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 2
- 238000003780 insertion Methods 0.000 description 2
- 230000037431 insertion Effects 0.000 description 2
- 238000013507 mapping Methods 0.000 description 2
- 239000003550 marker Substances 0.000 description 2
- 230000002438 mitochondrial effect Effects 0.000 description 2
- 108091033319 polynucleotide Proteins 0.000 description 2
- 102000040430 polynucleotide Human genes 0.000 description 2
- 239000002157 polynucleotide Substances 0.000 description 2
- 238000012545 processing Methods 0.000 description 2
- 238000000926 separation method Methods 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 239000000126 substance Substances 0.000 description 2
- 238000003786 synthesis reaction Methods 0.000 description 2
- 229940113082 thymine Drugs 0.000 description 2
- 210000001519 tissue Anatomy 0.000 description 2
- 108091032973 (ribonucleotides)n+m Proteins 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
- 241000894006 Bacteria Species 0.000 description 1
- 235000002566 Capsicum Nutrition 0.000 description 1
- 241000196324 Embryophyta Species 0.000 description 1
- 108010042407 Endonucleases Proteins 0.000 description 1
- 102000004533 Endonucleases Human genes 0.000 description 1
- 241000282412 Homo Species 0.000 description 1
- 102000003960 Ligases Human genes 0.000 description 1
- 108090000364 Ligases Proteins 0.000 description 1
- 108700026244 Open Reading Frames Proteins 0.000 description 1
- 239000006002 Pepper Substances 0.000 description 1
- 235000016761 Piper aduncum Nutrition 0.000 description 1
- 235000017804 Piper guineense Nutrition 0.000 description 1
- 244000203593 Piper nigrum Species 0.000 description 1
- 235000008184 Piper nigrum Nutrition 0.000 description 1
- 108020004511 Recombinant DNA Proteins 0.000 description 1
- 108020004682 Single-Stranded DNA Proteins 0.000 description 1
- 101100439974 Streptococcus pneumoniae serotype 4 (strain ATCC BAA-334 / TIGR4) clpE gene Proteins 0.000 description 1
- 241000700605 Viruses Species 0.000 description 1
- 239000002253 acid Substances 0.000 description 1
- 150000007513 acids Chemical class 0.000 description 1
- 230000006978 adaptation Effects 0.000 description 1
- 229960000643 adenine Drugs 0.000 description 1
- 238000000137 annealing Methods 0.000 description 1
- 210000004507 artificial chromosome Anatomy 0.000 description 1
- 238000003556 assay Methods 0.000 description 1
- 230000000712 assembly Effects 0.000 description 1
- 238000000429 assembly Methods 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- 210000004027 cell Anatomy 0.000 description 1
- 238000004113 cell culture Methods 0.000 description 1
- 230000008859 change Effects 0.000 description 1
- 238000013500 data storage Methods 0.000 description 1
- 229940079593 drug Drugs 0.000 description 1
- 230000000694 effects Effects 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- 230000009144 enzymatic modification Effects 0.000 description 1
- 238000006911 enzymatic reaction Methods 0.000 description 1
- 238000011156 evaluation Methods 0.000 description 1
- 238000013467 fragmentation Methods 0.000 description 1
- 238000006062 fragmentation reaction Methods 0.000 description 1
- 230000007614 genetic variation Effects 0.000 description 1
- 229920001519 homopolymer Polymers 0.000 description 1
- 238000009396 hybridization Methods 0.000 description 1
- 238000000338 in vitro Methods 0.000 description 1
- 230000003993 interaction Effects 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 150000002500 ions Chemical class 0.000 description 1
- 101150044508 key gene Proteins 0.000 description 1
- 108020004999 messenger RNA Proteins 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
- 238000005065 mining Methods 0.000 description 1
- 238000010369 molecular cloning Methods 0.000 description 1
- 230000000877 morphologic effect Effects 0.000 description 1
- 230000000737 periodic effect Effects 0.000 description 1
- 230000008569 process Effects 0.000 description 1
- 102000004169 proteins and genes Human genes 0.000 description 1
- 230000010076 replication Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 238000005096 rolling process Methods 0.000 description 1
- 238000007480 sanger sequencing Methods 0.000 description 1
- 238000002864 sequence alignment Methods 0.000 description 1
- 230000009870 specific binding Effects 0.000 description 1
- 238000011895 specific detection Methods 0.000 description 1
- 230000002195 synergetic effect Effects 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
- C12Q1/6809—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
- C12Q1/683—Hybridisation assays for detection of mutation or polymorphism involving restriction enzymes, e.g. restriction fragment length polymorphism [RFLP]
-
- 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
-
- 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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)
- Immunology (AREA)
- Molecular Biology (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Physics & Mathematics (AREA)
- Biochemistry (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Engineering & Computer Science (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161432915P | 2011-01-14 | 2011-01-14 | |
| US61/432,915 | 2011-01-14 | ||
| PCT/NL2012/050022 WO2012096579A2 (en) | 2011-01-14 | 2012-01-13 | Paired end random sequence based genotyping |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| KR20140040697A true KR20140040697A (ko) | 2014-04-03 |
Family
ID=45567083
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| KR1020137021562A Withdrawn KR20140040697A (ko) | 2011-01-14 | 2012-01-13 | 쌍 말단 무작위 서열 기반 유전자형 판별 |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US20130331277A1 (enExample) |
| EP (1) | EP2663655B1 (enExample) |
| JP (1) | JP2014502513A (enExample) |
| KR (1) | KR20140040697A (enExample) |
| CN (1) | CN103476946A (enExample) |
| AU (1) | AU2012205884A1 (enExample) |
| CA (1) | CA2823815A1 (enExample) |
| IL (1) | IL227411A0 (enExample) |
| WO (1) | WO2012096579A2 (enExample) |
Families Citing this family (31)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9116866B2 (en) | 2013-08-21 | 2015-08-25 | Seven Bridges Genomics Inc. | Methods and systems for detecting sequence variants |
| US9898575B2 (en) | 2013-08-21 | 2018-02-20 | Seven Bridges Genomics Inc. | Methods and systems for aligning sequences |
| US10832797B2 (en) | 2013-10-18 | 2020-11-10 | Seven Bridges Genomics Inc. | Method and system for quantifying sequence alignment |
| US10053736B2 (en) | 2013-10-18 | 2018-08-21 | Seven Bridges Genomics Inc. | Methods and systems for identifying disease-induced mutations |
| WO2015058120A1 (en) | 2013-10-18 | 2015-04-23 | Seven Bridges Genomics Inc. | Methods and systems for aligning sequences in the presence of repeating elements |
| JP2017500004A (ja) | 2013-10-18 | 2017-01-05 | セブン ブリッジズ ジェノミクス インコーポレイテッド | 遺伝子試料について遺伝子型解析するための方法およびシステム |
| US9092402B2 (en) | 2013-10-21 | 2015-07-28 | Seven Bridges Genomics Inc. | Systems and methods for using paired-end data in directed acyclic structure |
| US9817944B2 (en) | 2014-02-11 | 2017-11-14 | Seven Bridges Genomics Inc. | Systems and methods for analyzing sequence data |
| JP6198659B2 (ja) | 2014-04-03 | 2017-09-20 | 株式会社日立ハイテクノロジーズ | 配列データ解析装置、ｄｎａ解析システムおよび配列データ解析方法 |
| EP3237616A1 (en) * | 2014-12-24 | 2017-11-01 | Keygene N.V. | Backbone mediated mate pair sequencing |
| JP6691871B2 (ja) * | 2015-01-16 | 2020-05-13 | 国立研究開発法人国立がん研究センター | 融合遺伝子解析装置、融合遺伝子解析方法、及びプログラム |
| US10192026B2 (en) | 2015-03-05 | 2019-01-29 | Seven Bridges Genomics Inc. | Systems and methods for genomic pattern analysis |
| WO2016143062A1 (ja) * | 2015-03-10 | 2016-09-15 | 株式会社日立ハイテクノロジーズ | 配列データ解析装置、ｄｎａ解析システムおよび配列データ解析方法 |
| US10793895B2 (en) | 2015-08-24 | 2020-10-06 | Seven Bridges Genomics Inc. | Systems and methods for epigenetic analysis |
| US10584380B2 (en) | 2015-09-01 | 2020-03-10 | Seven Bridges Genomics Inc. | Systems and methods for mitochondrial analysis |
| US10724110B2 (en) | 2015-09-01 | 2020-07-28 | Seven Bridges Genomics Inc. | Systems and methods for analyzing viral nucleic acids |
| US11347704B2 (en) | 2015-10-16 | 2022-05-31 | Seven Bridges Genomics Inc. | Biological graph or sequence serialization |
| WO2017084025A1 (zh) * | 2015-11-17 | 2017-05-26 | 安诺优达基因科技(北京)有限公司 | 一种构建测序用dna文库的方法 |
| US20170199960A1 (en) | 2016-01-07 | 2017-07-13 | Seven Bridges Genomics Inc. | Systems and methods for adaptive local alignment for graph genomes |
| US10364468B2 (en) | 2016-01-13 | 2019-07-30 | Seven Bridges Genomics Inc. | Systems and methods for analyzing circulating tumor DNA |
| US10460829B2 (en) | 2016-01-26 | 2019-10-29 | Seven Bridges Genomics Inc. | Systems and methods for encoding genetic variation for a population |
| US10262102B2 (en) | 2016-02-24 | 2019-04-16 | Seven Bridges Genomics Inc. | Systems and methods for genotyping with graph reference |
| US10790044B2 (en) | 2016-05-19 | 2020-09-29 | Seven Bridges Genomics Inc. | Systems and methods for sequence encoding, storage, and compression |
| US10600499B2 (en) | 2016-07-13 | 2020-03-24 | Seven Bridges Genomics Inc. | Systems and methods for reconciling variants in sequence data relative to reference sequence data |
| US11289177B2 (en) | 2016-08-08 | 2022-03-29 | Seven Bridges Genomics, Inc. | Computer method and system of identifying genomic mutations using graph-based local assembly |
| US11250931B2 (en) | 2016-09-01 | 2022-02-15 | Seven Bridges Genomics Inc. | Systems and methods for detecting recombination |
| CN107858408A (zh) * | 2016-09-19 | 2018-03-30 | 深圳华大基因科技服务有限公司 | 一种基因组二代序列组装方法和系统 |
| US10726110B2 (en) | 2017-03-01 | 2020-07-28 | Seven Bridges Genomics, Inc. | Watermarking for data security in bioinformatic sequence analysis |
| US11347844B2 (en) | 2017-03-01 | 2022-05-31 | Seven Bridges Genomics, Inc. | Data security in bioinformatic sequence analysis |
| US12046325B2 (en) | 2018-02-14 | 2024-07-23 | Seven Bridges Genomics Inc. | System and method for sequence identification in reassembly variant calling |
| CN112176419B (zh) * | 2019-10-16 | 2022-03-22 | 中国医学科学院肿瘤医院 | 一种检测ctDNA中肿瘤特异基因的变异和甲基化的方法 |
Family Cites Families (16)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| ZA927323B (en) | 1991-09-24 | 1993-08-30 | Keygene Nv | Selective restriction fragment amplification: A general method for DNA fingerprinting |
| DE69929542T2 (de) | 1998-10-27 | 2006-09-14 | Affymetrix, Inc., Santa Clara | Komplexitätsmanagement und analyse genomischer dna |
| US6958225B2 (en) | 1999-10-27 | 2005-10-25 | Affymetrix, Inc. | Complexity management of genomic DNA |
| 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 |
| US6975943B2 (en) | 2001-09-24 | 2005-12-13 | Seqwright, Inc. | Clone-array pooled shotgun strategy for nucleic acid sequencing |
| US6902921B2 (en) | 2001-10-30 | 2005-06-07 | 454 Corporation | Sulfurylase-luciferase fusion proteins and thermostable sulfurylase |
| US7575865B2 (en) * | 2003-01-29 | 2009-08-18 | 454 Life Sciences Corporation | Methods of amplifying and sequencing nucleic acids |
| DE602004026033D1 (de) | 2003-01-29 | 2010-04-29 | 454 Corp | Zweiendige sequenzierung |
| US8222005B2 (en) * | 2003-09-17 | 2012-07-17 | Agency For Science, Technology And Research | Method for gene identification signature (GIS) analysis |
| US8785353B2 (en) * | 2005-06-23 | 2014-07-22 | Keygene N.V. | Strategies for high throughput identification and detection of polymorphisms |
| ES2882401T3 (es) * | 2005-12-22 | 2021-12-01 | Keygene Nv | Método de detección de polimorfismos basado en AFLP de alto rendimiento |
| US7754429B2 (en) * | 2006-10-06 | 2010-07-13 | Illumina Cambridge Limited | Method for pair-wise sequencing a plurity of target polynucleotides |
| EP2201136B1 (en) | 2007-10-01 | 2017-12-06 | Nabsys 2.0 LLC | Nanopore sequencing by hybridization of probes to form ternary complexes and variable range alignment |
| US8882980B2 (en) | 2008-09-03 | 2014-11-11 | Nabsys, Inc. | Use of longitudinally displaced nanoscale electrodes for voltage sensing of biomolecules and other analytes in fluidic channels |
| US8262879B2 (en) | 2008-09-03 | 2012-09-11 | Nabsys, Inc. | Devices and methods for determining the length of biopolymers and distances between probes bound thereto |
| US8481699B2 (en) * | 2009-07-14 | 2013-07-09 | Academia Sinica | Multiplex barcoded Paired-End ditag (mbPED) library construction for ultra high throughput sequencing |
-
2012
- 2012-01-13 AU AU2012205884A patent/AU2012205884A1/en not_active Abandoned
- 2012-01-13 KR KR1020137021562A patent/KR20140040697A/ko not_active Withdrawn
- 2012-01-13 CN CN2012800053582A patent/CN103476946A/zh active Pending
- 2012-01-13 JP JP2013549380A patent/JP2014502513A/ja not_active Withdrawn
- 2012-01-13 US US13/978,824 patent/US20130331277A1/en not_active Abandoned
- 2012-01-13 CA CA2823815A patent/CA2823815A1/en not_active Abandoned
- 2012-01-13 EP EP12702895.9A patent/EP2663655B1/en not_active Not-in-force
- 2012-01-13 WO PCT/NL2012/050022 patent/WO2012096579A2/en not_active Ceased
-
2013
- 2013-07-10 IL IL227411A patent/IL227411A0/en unknown
Also Published As
| Publication number | Publication date |
|---|---|
| EP2663655B1 (en) | 2015-09-02 |
| IL227411A0 (en) | 2013-09-30 |
| AU2012205884A1 (en) | 2013-08-29 |
| JP2014502513A (ja) | 2014-02-03 |
| EP2663655A2 (en) | 2013-11-20 |
| CA2823815A1 (en) | 2012-07-19 |
| WO2012096579A2 (en) | 2012-07-19 |
| WO2012096579A3 (en) | 2012-09-13 |
| US20130331277A1 (en) | 2013-12-12 |
| CN103476946A (zh) | 2013-12-25 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| EP2663655B1 (en) | Paired end random sequence based genotyping | |
| US10538806B2 (en) | High throughput screening of populations carrying naturally occurring mutations | |
| EP2513333B1 (en) | Restriction enzyme based whole genome sequencing | |
| JP5389638B2 (ja) | 制限断片に基づく分子マーカーのハイスループットな検出 | |
| CN101641449B (zh) | 用于多态性的高通量鉴定和检测的策略 | |
| CN101484589B (zh) | 使用aflp的高通量物理作图 | |
| EP2379751B1 (en) | Novel genome sequencing strategies | |
| JP2008546405A (ja) | ハイスループットシーケンシング技術を使用して複雑なゲノムをシーケンシングするための改善された戦略 | |
| US10316364B2 (en) | Method for identifying the source of an amplicon | |
| US20150329906A1 (en) | Novel genome sequencing strategies | |
| WO2011071382A1 (en) | Polymorfphic whole genome profiling |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| PA0105 | International application |
Patent event date: 20130814 Patent event code: PA01051R01D Comment text: International Patent Application |
|
| PG1501 | Laying open of application | ||
| PC1203 | Withdrawal of no request for examination | ||
| WITN | Application deemed withdrawn, e.g. because no request for examination was filed or no examination fee was paid |