CA2877493C - Highly multiplex pcr methods and compositions - Google Patents
Highly multiplex pcr methods and compositions Download PDFInfo
- Publication number
- CA2877493C CA2877493C CA2877493A CA2877493A CA2877493C CA 2877493 C CA2877493 C CA 2877493C CA 2877493 A CA2877493 A CA 2877493A CA 2877493 A CA2877493 A CA 2877493A CA 2877493 C CA2877493 C CA 2877493C
- Authority
- CA
- Canada
- Prior art keywords
- dna
- target
- primers
- primer
- pcr
- 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.)
- Active
Links
- 238000000034 method Methods 0.000 title claims abstract description 729
- 239000000203 mixture Substances 0.000 title description 135
- 238000007403 mPCR Methods 0.000 title description 31
- 108091093088 Amplicon Proteins 0.000 claims abstract description 146
- 238000006243 chemical reaction Methods 0.000 claims abstract description 126
- 150000007523 nucleic acids Chemical group 0.000 claims abstract description 58
- 102000039446 nucleic acids Human genes 0.000 claims abstract description 52
- 108020004707 nucleic acids Proteins 0.000 claims abstract description 52
- 239000000539 dimer Substances 0.000 claims abstract description 44
- 108020004414 DNA Proteins 0.000 claims description 661
- 239000000523 sample Substances 0.000 claims description 496
- 210000000349 chromosome Anatomy 0.000 claims description 364
- 230000001605 fetal effect Effects 0.000 claims description 243
- 210000003754 fetus Anatomy 0.000 claims description 205
- 230000008774 maternal effect Effects 0.000 claims description 195
- 238000012163 sequencing technique Methods 0.000 claims description 180
- 210000004027 cell Anatomy 0.000 claims description 113
- 238000012360 testing method Methods 0.000 claims description 110
- 239000002773 nucleotide Substances 0.000 claims description 101
- 125000003729 nucleotide group Chemical group 0.000 claims description 101
- 230000002441 reversible effect Effects 0.000 claims description 90
- 206010028980 Neoplasm Diseases 0.000 claims description 24
- 238000000137 annealing Methods 0.000 claims description 23
- 239000011541 reaction mixture Substances 0.000 claims description 22
- 238000002844 melting Methods 0.000 claims description 19
- 230000008018 melting Effects 0.000 claims description 19
- 238000003752 polymerase chain reaction Methods 0.000 claims description 16
- 102000054765 polymorphisms of proteins Human genes 0.000 claims description 16
- 241000282414 Homo sapiens Species 0.000 claims description 14
- 238000007857 nested PCR Methods 0.000 claims description 13
- 206010064041 Foetal chromosome abnormality Diseases 0.000 claims description 4
- 238000003199 nucleic acid amplification method Methods 0.000 abstract description 197
- 230000003321 amplification Effects 0.000 abstract description 196
- 230000015572 biosynthetic process Effects 0.000 abstract description 20
- 239000013615 primer Substances 0.000 description 683
- 108700028369 Alleles Proteins 0.000 description 514
- 230000002068 genetic effect Effects 0.000 description 214
- 238000009826 distribution Methods 0.000 description 159
- 239000000047 product Substances 0.000 description 123
- 238000005259 measurement Methods 0.000 description 120
- 108090000623 proteins and genes Proteins 0.000 description 119
- 210000002381 plasma Anatomy 0.000 description 94
- 208000036878 aneuploidy Diseases 0.000 description 81
- 102000004169 proteins and genes Human genes 0.000 description 76
- 210000004369 blood Anatomy 0.000 description 71
- 239000008280 blood Substances 0.000 description 71
- 208000037280 Trisomy Diseases 0.000 description 67
- 231100001075 aneuploidy Toxicity 0.000 description 63
- 239000012634 fragment Substances 0.000 description 58
- 230000000875 corresponding effect Effects 0.000 description 56
- 201000010099 disease Diseases 0.000 description 48
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 48
- 238000004458 analytical method Methods 0.000 description 46
- 210000001161 mammalian embryo Anatomy 0.000 description 45
- 238000009396 hybridization Methods 0.000 description 43
- 238000013459 approach Methods 0.000 description 42
- 230000027455 binding Effects 0.000 description 38
- 230000001965 increasing effect Effects 0.000 description 38
- 102000053602 DNA Human genes 0.000 description 37
- 238000001514 detection method Methods 0.000 description 37
- 230000008685 targeting Effects 0.000 description 32
- 238000007476 Maximum Likelihood Methods 0.000 description 31
- 238000012217 deletion Methods 0.000 description 31
- 230000037430 deletion Effects 0.000 description 31
- 230000035935 pregnancy Effects 0.000 description 31
- 238000007667 floating Methods 0.000 description 30
- 238000003556 assay Methods 0.000 description 29
- 230000037452 priming Effects 0.000 description 29
- 230000008775 paternal effect Effects 0.000 description 28
- 230000006872 improvement Effects 0.000 description 26
- 230000035772 mutation Effects 0.000 description 26
- 238000012408 PCR amplification Methods 0.000 description 25
- 230000008569 process Effects 0.000 description 24
- 238000002474 experimental method Methods 0.000 description 23
- 208000012978 nondisjunction Diseases 0.000 description 23
- 238000013461 design Methods 0.000 description 22
- 102000054766 genetic haplotypes Human genes 0.000 description 22
- 238000003205 genotyping method Methods 0.000 description 22
- 108091028043 Nucleic acid sequence Proteins 0.000 description 20
- 238000007854 ligation-mediated PCR Methods 0.000 description 19
- 108091032973 (ribonucleotides)n+m Proteins 0.000 description 18
- 230000003322 aneuploid effect Effects 0.000 description 18
- 230000000295 complement effect Effects 0.000 description 18
- 108091006146 Channels Proteins 0.000 description 17
- 238000002944 PCR assay Methods 0.000 description 17
- 210000002257 embryonic structure Anatomy 0.000 description 17
- 238000002360 preparation method Methods 0.000 description 17
- 210000001519 tissue Anatomy 0.000 description 17
- 238000011144 upstream manufacturing Methods 0.000 description 17
- 230000008901 benefit Effects 0.000 description 16
- 239000003153 chemical reaction reagent Substances 0.000 description 16
- 239000000463 material Substances 0.000 description 16
- 108091034117 Oligonucleotide Proteins 0.000 description 15
- 230000004057 allelic distribution Effects 0.000 description 15
- 238000005516 engineering process Methods 0.000 description 15
- 230000014509 gene expression Effects 0.000 description 15
- 238000005070 sampling Methods 0.000 description 15
- 238000004422 calculation algorithm Methods 0.000 description 14
- 201000011510 cancer Diseases 0.000 description 14
- 230000002759 chromosomal effect Effects 0.000 description 14
- 230000003993 interaction Effects 0.000 description 14
- 238000003793 prenatal diagnosis Methods 0.000 description 14
- 238000010187 selection method Methods 0.000 description 14
- DVGKRPYUFRZAQW-UHFFFAOYSA-N 3 prime Natural products CC(=O)NC1OC(CC(O)C1C(O)C(O)CO)(OC2C(O)C(CO)OC(OC3C(O)C(O)C(O)OC3CO)C2O)C(=O)O DVGKRPYUFRZAQW-UHFFFAOYSA-N 0.000 description 13
- 238000002493 microarray Methods 0.000 description 13
- 208000031404 Chromosome Aberrations Diseases 0.000 description 12
- 230000005856 abnormality Effects 0.000 description 12
- 210000003743 erythrocyte Anatomy 0.000 description 12
- 230000006870 function Effects 0.000 description 12
- 238000012165 high-throughput sequencing Methods 0.000 description 12
- 238000003780 insertion Methods 0.000 description 12
- 230000037431 insertion Effects 0.000 description 12
- 238000013507 mapping Methods 0.000 description 12
- 230000023439 meiosis II Effects 0.000 description 12
- 230000002829 reductive effect Effects 0.000 description 12
- 238000004364 calculation method Methods 0.000 description 11
- 208000030454 monosomy Diseases 0.000 description 11
- 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 10
- 230000003247 decreasing effect Effects 0.000 description 10
- 238000003745 diagnosis Methods 0.000 description 10
- 230000000694 effects Effects 0.000 description 10
- 238000000338 in vitro Methods 0.000 description 10
- 230000036961 partial effect Effects 0.000 description 10
- 239000002987 primer (paints) Substances 0.000 description 10
- 238000007792 addition Methods 0.000 description 9
- 230000004720 fertilization Effects 0.000 description 9
- 108020004999 messenger RNA Proteins 0.000 description 9
- 230000000394 mitotic effect Effects 0.000 description 9
- 238000012935 Averaging Methods 0.000 description 8
- 238000001712 DNA sequencing Methods 0.000 description 8
- 108020004682 Single-Stranded DNA Proteins 0.000 description 8
- 230000002159 abnormal effect Effects 0.000 description 8
- 230000009471 action Effects 0.000 description 8
- 239000013068 control sample Substances 0.000 description 8
- 230000011278 mitosis Effects 0.000 description 8
- 230000002093 peripheral effect Effects 0.000 description 8
- 238000012549 training Methods 0.000 description 8
- 230000009466 transformation Effects 0.000 description 8
- 230000006399 behavior Effects 0.000 description 7
- 238000003776 cleavage reaction Methods 0.000 description 7
- 230000036541 health Effects 0.000 description 7
- 230000021121 meiosis Effects 0.000 description 7
- 230000017346 meiosis I Effects 0.000 description 7
- 230000007017 scission Effects 0.000 description 7
- 239000007858 starting material Substances 0.000 description 7
- YBJHBAHKTGYVGT-ZKWXMUAHSA-N (+)-Biotin Chemical compound N1C(=O)N[C@@H]2[C@H](CCCCC(=O)O)SC[C@@H]21 YBJHBAHKTGYVGT-ZKWXMUAHSA-N 0.000 description 6
- 206010008805 Chromosomal abnormalities Diseases 0.000 description 6
- 201000010374 Down Syndrome Diseases 0.000 description 6
- 230000004931 aggregating effect Effects 0.000 description 6
- 238000003491 array Methods 0.000 description 6
- 238000001574 biopsy Methods 0.000 description 6
- 210000001109 blastomere Anatomy 0.000 description 6
- 210000001124 body fluid Anatomy 0.000 description 6
- 230000007423 decrease Effects 0.000 description 6
- 238000000126 in silico method Methods 0.000 description 6
- -1 poly(ethylene glycol) Polymers 0.000 description 6
- 238000012216 screening Methods 0.000 description 6
- 230000005945 translocation Effects 0.000 description 6
- 108010014303 DNA-directed DNA polymerase Proteins 0.000 description 5
- 102000016928 DNA-directed DNA polymerase Human genes 0.000 description 5
- 208000026350 Inborn Genetic disease Diseases 0.000 description 5
- 208000026487 Triploidy Diseases 0.000 description 5
- 238000002669 amniocentesis Methods 0.000 description 5
- 239000012620 biological material Substances 0.000 description 5
- 239000010839 body fluid Substances 0.000 description 5
- 230000002596 correlated effect Effects 0.000 description 5
- 230000008175 fetal development Effects 0.000 description 5
- 208000016361 genetic disease Diseases 0.000 description 5
- 238000013412 genome amplification Methods 0.000 description 5
- 239000003550 marker Substances 0.000 description 5
- 239000011824 nuclear material Substances 0.000 description 5
- 238000011002 quantification Methods 0.000 description 5
- 230000006798 recombination Effects 0.000 description 5
- 238000005215 recombination Methods 0.000 description 5
- 238000000926 separation method Methods 0.000 description 5
- 208000011908 tetrasomy Diseases 0.000 description 5
- FSQRTGQUTVRMNV-UHFFFAOYSA-N 4-[(4-amino-9,10-dioxoanthracen-1-yl)amino]benzoic acid Chemical compound C1=2C(=O)C3=CC=CC=C3C(=O)C=2C(N)=CC=C1NC1=CC=C(C(O)=O)C=C1 FSQRTGQUTVRMNV-UHFFFAOYSA-N 0.000 description 4
- 108091061744 Cell-free fetal DNA Proteins 0.000 description 4
- 108060002716 Exonuclease Proteins 0.000 description 4
- 108010054147 Hemoglobins Proteins 0.000 description 4
- 102000001554 Hemoglobins Human genes 0.000 description 4
- 101001024425 Mus musculus Ig gamma-2A chain C region secreted form Proteins 0.000 description 4
- 108020005187 Oligonucleotide Probes Proteins 0.000 description 4
- UPNVKIZABMRHNR-UHFFFAOYSA-N acetyl neobritannilactone B Natural products CC(=O)OC1CC(C)=CCCC(C)=CC2OC(=O)C(=C)C12 UPNVKIZABMRHNR-UHFFFAOYSA-N 0.000 description 4
- OIRDTQYFTABQOQ-KQYNXXCUSA-N adenosine Chemical compound C1=NC=2C(N)=NC=NC=2N1[C@@H]1O[C@H](CO)[C@@H](O)[C@H]1O OIRDTQYFTABQOQ-KQYNXXCUSA-N 0.000 description 4
- 230000001640 apoptogenic effect Effects 0.000 description 4
- 210000004252 chorionic villi Anatomy 0.000 description 4
- 230000004087 circulation Effects 0.000 description 4
- 239000002299 complementary DNA Substances 0.000 description 4
- 239000002131 composite material Substances 0.000 description 4
- 230000001143 conditioned effect Effects 0.000 description 4
- 238000011156 evaluation Methods 0.000 description 4
- 102000013165 exonuclease Human genes 0.000 description 4
- 210000004700 fetal blood Anatomy 0.000 description 4
- 238000002955 isolation Methods 0.000 description 4
- 230000000670 limiting effect Effects 0.000 description 4
- 238000002156 mixing Methods 0.000 description 4
- 230000004048 modification Effects 0.000 description 4
- 238000012986 modification Methods 0.000 description 4
- 239000002751 oligonucleotide probe Substances 0.000 description 4
- 210000002826 placenta Anatomy 0.000 description 4
- 230000003169 placental effect Effects 0.000 description 4
- 238000011176 pooling Methods 0.000 description 4
- 238000000746 purification Methods 0.000 description 4
- 238000003757 reverse transcription PCR Methods 0.000 description 4
- 210000002966 serum Anatomy 0.000 description 4
- 210000003765 sex chromosome Anatomy 0.000 description 4
- 238000007086 side reaction Methods 0.000 description 4
- 239000007787 solid Substances 0.000 description 4
- 238000003786 synthesis reaction Methods 0.000 description 4
- 102100034343 Integrase Human genes 0.000 description 3
- 208000017924 Klinefelter Syndrome Diseases 0.000 description 3
- 102000003960 Ligases Human genes 0.000 description 3
- 108090000364 Ligases Proteins 0.000 description 3
- 108091092878 Microsatellite Proteins 0.000 description 3
- 108010092799 RNA-directed DNA polymerase Proteins 0.000 description 3
- 238000011529 RT qPCR Methods 0.000 description 3
- 108010090804 Streptavidin Proteins 0.000 description 3
- 208000026928 Turner syndrome Diseases 0.000 description 3
- 208000031655 Uniparental Disomy Diseases 0.000 description 3
- 210000004381 amniotic fluid Anatomy 0.000 description 3
- 229960002685 biotin Drugs 0.000 description 3
- 235000020958 biotin Nutrition 0.000 description 3
- 239000011616 biotin Substances 0.000 description 3
- 239000006227 byproduct Substances 0.000 description 3
- 238000004113 cell culture Methods 0.000 description 3
- 239000003086 colorant Substances 0.000 description 3
- 238000012937 correction Methods 0.000 description 3
- 238000002405 diagnostic procedure Methods 0.000 description 3
- 210000001840 diploid cell Anatomy 0.000 description 3
- 238000011049 filling Methods 0.000 description 3
- 238000013467 fragmentation Methods 0.000 description 3
- 238000006062 fragmentation reaction Methods 0.000 description 3
- 208000021005 inheritance pattern Diseases 0.000 description 3
- 230000001404 mediated effect Effects 0.000 description 3
- 238000005457 optimization Methods 0.000 description 3
- 230000009467 reduction Effects 0.000 description 3
- 238000011160 research Methods 0.000 description 3
- 230000004044 response Effects 0.000 description 3
- 210000003296 saliva Anatomy 0.000 description 3
- 239000006228 supernatant Substances 0.000 description 3
- 210000004291 uterus Anatomy 0.000 description 3
- 229930091051 Arenine Natural products 0.000 description 2
- 239000002126 C01EB10 - Adenosine Substances 0.000 description 2
- 201000003883 Cystic fibrosis Diseases 0.000 description 2
- 206010067477 Cytogenetic abnormality Diseases 0.000 description 2
- 230000004544 DNA amplification Effects 0.000 description 2
- 230000004568 DNA-binding Effects 0.000 description 2
- 102000016911 Deoxyribonucleases Human genes 0.000 description 2
- 108010053770 Deoxyribonucleases Proteins 0.000 description 2
- 201000006360 Edwards syndrome Diseases 0.000 description 2
- 241000196324 Embryophyta Species 0.000 description 2
- 108700024394 Exon Proteins 0.000 description 2
- 108010044495 Fetal Hemoglobin Proteins 0.000 description 2
- 241000282412 Homo Species 0.000 description 2
- 101000738771 Homo sapiens Receptor-type tyrosine-protein phosphatase C Proteins 0.000 description 2
- 108091092195 Intron Proteins 0.000 description 2
- OUYCCCASQSFEME-QMMMGPOBSA-N L-tyrosine Chemical compound OC(=O)[C@@H](N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-QMMMGPOBSA-N 0.000 description 2
- 241001465754 Metazoa Species 0.000 description 2
- 201000009928 Patau syndrome Diseases 0.000 description 2
- 208000020584 Polyploidy Diseases 0.000 description 2
- 201000010769 Prader-Willi syndrome Diseases 0.000 description 2
- 102100037422 Receptor-type tyrosine-protein phosphatase C Human genes 0.000 description 2
- 101150081243 STA1 gene Proteins 0.000 description 2
- 206010044686 Trisomy 13 Diseases 0.000 description 2
- 208000006284 Trisomy 13 Syndrome Diseases 0.000 description 2
- 208000007159 Trisomy 18 Syndrome Diseases 0.000 description 2
- 210000001766 X chromosome Anatomy 0.000 description 2
- 210000002593 Y chromosome Anatomy 0.000 description 2
- 229960005305 adenosine Drugs 0.000 description 2
- 230000002411 adverse Effects 0.000 description 2
- 230000006907 apoptotic process Effects 0.000 description 2
- 239000011324 bead Substances 0.000 description 2
- 210000000941 bile Anatomy 0.000 description 2
- 210000000601 blood cell Anatomy 0.000 description 2
- 239000000969 carrier Substances 0.000 description 2
- 230000015556 catabolic process Effects 0.000 description 2
- 210000002230 centromere Anatomy 0.000 description 2
- 210000003756 cervix mucus Anatomy 0.000 description 2
- 210000001136 chorion Anatomy 0.000 description 2
- 238000004587 chromatography analysis Methods 0.000 description 2
- 238000004590 computer program Methods 0.000 description 2
- 238000010276 construction Methods 0.000 description 2
- 238000011109 contamination Methods 0.000 description 2
- 239000012228 culture supernatant Substances 0.000 description 2
- OPTASPLRGRRNAP-UHFFFAOYSA-N cytosine Chemical compound NC=1C=CNC(=O)N=1 OPTASPLRGRRNAP-UHFFFAOYSA-N 0.000 description 2
- 238000012350 deep sequencing Methods 0.000 description 2
- 238000006731 degradation reaction Methods 0.000 description 2
- 238000007847 digital PCR Methods 0.000 description 2
- 238000006073 displacement reaction Methods 0.000 description 2
- 239000000975 dye Substances 0.000 description 2
- 238000001962 electrophoresis Methods 0.000 description 2
- 230000001973 epigenetic effect Effects 0.000 description 2
- 210000004905 finger nail Anatomy 0.000 description 2
- 230000006543 gametophyte development Effects 0.000 description 2
- UYTPUPDQBNUYGX-UHFFFAOYSA-N guanine Chemical compound O=C1NC(N)=NC2=C1N=CN2 UYTPUPDQBNUYGX-UHFFFAOYSA-N 0.000 description 2
- 210000004209 hair Anatomy 0.000 description 2
- 210000003783 haploid cell Anatomy 0.000 description 2
- 238000002513 implantation Methods 0.000 description 2
- 239000007788 liquid Substances 0.000 description 2
- 210000002751 lymph Anatomy 0.000 description 2
- 238000004519 manufacturing process Methods 0.000 description 2
- 238000000691 measurement method Methods 0.000 description 2
- 230000007246 mechanism Effects 0.000 description 2
- 230000011987 methylation Effects 0.000 description 2
- 238000007069 methylation reaction Methods 0.000 description 2
- 238000007481 next generation sequencing Methods 0.000 description 2
- 210000004940 nucleus Anatomy 0.000 description 2
- 208000036897 pentasomy Diseases 0.000 description 2
- 210000005059 placental tissue Anatomy 0.000 description 2
- 210000004508 polar body Anatomy 0.000 description 2
- 102000040430 polynucleotide Human genes 0.000 description 2
- 108091033319 polynucleotide Proteins 0.000 description 2
- 239000002157 polynucleotide Substances 0.000 description 2
- 230000036647 reaction Effects 0.000 description 2
- 239000013643 reference control Substances 0.000 description 2
- 108091008146 restriction endonucleases Proteins 0.000 description 2
- 238000005096 rolling process Methods 0.000 description 2
- 210000000582 semen Anatomy 0.000 description 2
- 230000035945 sensitivity Effects 0.000 description 2
- 238000001542 size-exclusion chromatography Methods 0.000 description 2
- 210000003491 skin Anatomy 0.000 description 2
- 210000001082 somatic cell Anatomy 0.000 description 2
- 230000000392 somatic effect Effects 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 208000002320 spinal muscular atrophy Diseases 0.000 description 2
- 208000000995 spontaneous abortion Diseases 0.000 description 2
- 238000010186 staining Methods 0.000 description 2
- 238000010561 standard procedure Methods 0.000 description 2
- 239000000758 substrate Substances 0.000 description 2
- 210000001138 tear Anatomy 0.000 description 2
- RWQNBRDOKXIBIV-UHFFFAOYSA-N thymine Chemical compound CC1=CNC(=O)NC1=O RWQNBRDOKXIBIV-UHFFFAOYSA-N 0.000 description 2
- 238000011282 treatment Methods 0.000 description 2
- 206010053884 trisomy 18 Diseases 0.000 description 2
- OUYCCCASQSFEME-UHFFFAOYSA-N tyrosine Natural products OC(=O)C(N)CC1=CC=C(O)C=C1 OUYCCCASQSFEME-UHFFFAOYSA-N 0.000 description 2
- 210000002700 urine Anatomy 0.000 description 2
- 210000003462 vein Anatomy 0.000 description 2
- 208000010543 22q11.2 deletion syndrome Diseases 0.000 description 1
- KZZWQCKYLNIOBT-UHFFFAOYSA-N 5-amino-2-nitrobenzoic acid Chemical compound NC1=CC=C([N+]([O-])=O)C(C(O)=O)=C1 KZZWQCKYLNIOBT-UHFFFAOYSA-N 0.000 description 1
- 206010000234 Abortion spontaneous Diseases 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
- 240000000662 Anethum graveolens Species 0.000 description 1
- 101100161473 Arabidopsis thaliana ABCB25 gene Proteins 0.000 description 1
- 241000894006 Bacteria Species 0.000 description 1
- 206010068051 Chimerism Diseases 0.000 description 1
- 108091060290 Chromatid Proteins 0.000 description 1
- VYZAMTAEIAYCRO-UHFFFAOYSA-N Chromium Chemical compound [Cr] VYZAMTAEIAYCRO-UHFFFAOYSA-N 0.000 description 1
- 108020004638 Circular DNA Proteins 0.000 description 1
- 206010010356 Congenital anomaly Diseases 0.000 description 1
- 208000027205 Congenital disease Diseases 0.000 description 1
- 208000029767 Congenital, Hereditary, and Neonatal Diseases and Abnormalities Diseases 0.000 description 1
- 102000012410 DNA Ligases Human genes 0.000 description 1
- 108010061982 DNA Ligases Proteins 0.000 description 1
- 239000003155 DNA primer Substances 0.000 description 1
- 230000006820 DNA synthesis Effects 0.000 description 1
- 208000002064 Dental Plaque Diseases 0.000 description 1
- 208000000398 DiGeorge Syndrome Diseases 0.000 description 1
- 206010013801 Duchenne Muscular Dystrophy Diseases 0.000 description 1
- 102000004190 Enzymes Human genes 0.000 description 1
- 108090000790 Enzymes Proteins 0.000 description 1
- 206010016871 Foetal-maternal haemorrhage Diseases 0.000 description 1
- 101710093554 Galactose-specific lectin Proteins 0.000 description 1
- 206010064571 Gene mutation Diseases 0.000 description 1
- 241000691979 Halcyon Species 0.000 description 1
- 241000238631 Hexapoda Species 0.000 description 1
- 101000617738 Homo sapiens Survival motor neuron protein Proteins 0.000 description 1
- 101000835093 Homo sapiens Transferrin receptor protein 1 Proteins 0.000 description 1
- 208000035752 Live birth Diseases 0.000 description 1
- 241001676573 Minium Species 0.000 description 1
- 238000000342 Monte Carlo simulation Methods 0.000 description 1
- 206010068052 Mosaicism Diseases 0.000 description 1
- 101100096893 Mus musculus Sult2a1 gene Proteins 0.000 description 1
- 206010028289 Muscle atrophy Diseases 0.000 description 1
- 108091093105 Nuclear DNA Proteins 0.000 description 1
- 208000016012 Phenotypic abnormality Diseases 0.000 description 1
- 239000004698 Polyethylene Substances 0.000 description 1
- 239000004743 Polypropylene Substances 0.000 description 1
- 208000032236 Predisposition to disease Diseases 0.000 description 1
- 239000004990 Smectic liquid crystal Substances 0.000 description 1
- 102100021947 Survival motor neuron protein Human genes 0.000 description 1
- 102100026144 Transferrin receptor protein 1 Human genes 0.000 description 1
- 206010044688 Trisomy 21 Diseases 0.000 description 1
- 239000004188 Virginiamycin Substances 0.000 description 1
- 241000700605 Viruses Species 0.000 description 1
- NIXOWILDQLNWCW-UHFFFAOYSA-N acrylic acid group Chemical group C(C=C)(=O)O NIXOWILDQLNWCW-UHFFFAOYSA-N 0.000 description 1
- 239000012082 adaptor molecule Substances 0.000 description 1
- 229960000643 adenine Drugs 0.000 description 1
- 230000002776 aggregation Effects 0.000 description 1
- 238000004220 aggregation Methods 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 239000012491 analyte Substances 0.000 description 1
- 238000013477 bayesian statistics method Methods 0.000 description 1
- 230000007321 biological mechanism Effects 0.000 description 1
- 230000031018 biological processes and functions Effects 0.000 description 1
- 239000012472 biological sample Substances 0.000 description 1
- 229920001400 block copolymer Polymers 0.000 description 1
- 230000017531 blood circulation Effects 0.000 description 1
- 238000010241 blood sampling Methods 0.000 description 1
- 210000000988 bone and bone Anatomy 0.000 description 1
- 238000009395 breeding Methods 0.000 description 1
- 230000001488 breeding effect Effects 0.000 description 1
- 239000000872 buffer Substances 0.000 description 1
- 230000001413 cellular effect Effects 0.000 description 1
- 229920002678 cellulose Polymers 0.000 description 1
- 239000001913 cellulose Substances 0.000 description 1
- 230000008859 change Effects 0.000 description 1
- 238000012512 characterization method Methods 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 230000003098 cholesteric effect Effects 0.000 description 1
- 210000004756 chromatid Anatomy 0.000 description 1
- 238000004140 cleaning Methods 0.000 description 1
- 229940104302 cytosine Drugs 0.000 description 1
- 238000013499 data model Methods 0.000 description 1
- 230000002939 deleterious effect Effects 0.000 description 1
- 230000036425 denaturation Effects 0.000 description 1
- 238000004925 denaturation Methods 0.000 description 1
- 238000000432 density-gradient centrifugation Methods 0.000 description 1
- 208000002925 dental caries Diseases 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 238000009795 derivation Methods 0.000 description 1
- 238000011161 development Methods 0.000 description 1
- 230000018109 developmental process Effects 0.000 description 1
- 238000012631 diagnostic technique Methods 0.000 description 1
- 230000004069 differentiation Effects 0.000 description 1
- 238000010790 dilution Methods 0.000 description 1
- 239000012895 dilution Substances 0.000 description 1
- 230000002708 enhancing effect Effects 0.000 description 1
- 230000007613 environmental effect Effects 0.000 description 1
- 230000002255 enzymatic effect Effects 0.000 description 1
- QDERNBXNXJCIQK-UHFFFAOYSA-N ethylisopropylamiloride Chemical compound CCN(C(C)C)C1=NC(N)=C(C(=O)N=C(N)N)N=C1Cl QDERNBXNXJCIQK-UHFFFAOYSA-N 0.000 description 1
- 238000000605 extraction Methods 0.000 description 1
- 210000003608 fece Anatomy 0.000 description 1
- 238000001914 filtration Methods 0.000 description 1
- 238000010304 firing Methods 0.000 description 1
- 239000012530 fluid Substances 0.000 description 1
- 229920002313 fluoropolymer Polymers 0.000 description 1
- 239000004811 fluoropolymer Substances 0.000 description 1
- 238000004374 forensic analysis Methods 0.000 description 1
- 230000008014 freezing Effects 0.000 description 1
- 238000007710 freezing Methods 0.000 description 1
- 210000001035 gastrointestinal tract Anatomy 0.000 description 1
- 238000012224 gene deletion Methods 0.000 description 1
- 238000011223 gene expression profiling Methods 0.000 description 1
- 230000007614 genetic variation Effects 0.000 description 1
- 210000004602 germ cell Anatomy 0.000 description 1
- 229910000078 germane Inorganic materials 0.000 description 1
- 239000005556 hormone Substances 0.000 description 1
- 229940088597 hormone Drugs 0.000 description 1
- 210000005260 human cell Anatomy 0.000 description 1
- 210000003917 human chromosome Anatomy 0.000 description 1
- 238000001727 in vivo Methods 0.000 description 1
- 239000012678 infectious agent Substances 0.000 description 1
- 230000000977 initiatory effect Effects 0.000 description 1
- 238000001990 intravenous administration Methods 0.000 description 1
- 150000002500 ions Chemical class 0.000 description 1
- 238000005304 joining Methods 0.000 description 1
- 230000008407 joint function Effects 0.000 description 1
- 239000004973 liquid crystal related substance Substances 0.000 description 1
- 210000004698 lymphocyte Anatomy 0.000 description 1
- 230000036244 malformation Effects 0.000 description 1
- 238000004949 mass spectrometry Methods 0.000 description 1
- 230000003340 mental effect Effects 0.000 description 1
- 230000003278 mimic effect Effects 0.000 description 1
- 208000015994 miscarriage Diseases 0.000 description 1
- 238000001823 molecular biology technique Methods 0.000 description 1
- 210000003097 mucus Anatomy 0.000 description 1
- 230000020763 muscle atrophy Effects 0.000 description 1
- 201000000585 muscular atrophy Diseases 0.000 description 1
- 238000010606 normalization Methods 0.000 description 1
- 238000002515 oligonucleotide synthesis Methods 0.000 description 1
- 201000003738 orofaciodigital syndrome VIII Diseases 0.000 description 1
- 244000045947 parasite Species 0.000 description 1
- 244000052769 pathogen Species 0.000 description 1
- 229920000515 polycarbonate Polymers 0.000 description 1
- 239000004417 polycarbonate Substances 0.000 description 1
- 229920000573 polyethylene Polymers 0.000 description 1
- 229920001223 polyethylene glycol Polymers 0.000 description 1
- 229920000642 polymer Polymers 0.000 description 1
- 238000006116 polymerization reaction Methods 0.000 description 1
- 229920001155 polypropylene Polymers 0.000 description 1
- 229920001296 polysiloxane Polymers 0.000 description 1
- 229920002635 polyurethane Polymers 0.000 description 1
- 239000004814 polyurethane Substances 0.000 description 1
- 239000002243 precursor Substances 0.000 description 1
- 238000009609 prenatal screening Methods 0.000 description 1
- 238000009598 prenatal testing Methods 0.000 description 1
- 238000012545 processing Methods 0.000 description 1
- 238000012175 pyrosequencing Methods 0.000 description 1
- 238000007859 qualitative PCR Methods 0.000 description 1
- 238000003908 quality control method Methods 0.000 description 1
- 238000004445 quantitative analysis Methods 0.000 description 1
- 238000011158 quantitative evaluation Methods 0.000 description 1
- 238000003753 real-time PCR Methods 0.000 description 1
- 238000010839 reverse transcription Methods 0.000 description 1
- 238000007480 sanger sequencing Methods 0.000 description 1
- 230000028327 secretion Effects 0.000 description 1
- 239000000243 solution Substances 0.000 description 1
- 230000007480 spreading Effects 0.000 description 1
- 238000003892 spreading Methods 0.000 description 1
- 238000012409 standard PCR amplification Methods 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 238000005309 stochastic process Methods 0.000 description 1
- 238000003860 storage Methods 0.000 description 1
- 229920006132 styrene block copolymer Polymers 0.000 description 1
- 239000000126 substance Substances 0.000 description 1
- 238000006467 substitution reaction Methods 0.000 description 1
- 150000003457 sulfones Chemical class 0.000 description 1
- 230000004083 survival effect Effects 0.000 description 1
- 230000001225 therapeutic effect Effects 0.000 description 1
- 229940113082 thymine Drugs 0.000 description 1
- 238000013518 transcription Methods 0.000 description 1
- 230000035897 transcription Effects 0.000 description 1
- 238000000844 transformation Methods 0.000 description 1
- 230000001131 transforming effect Effects 0.000 description 1
- 238000002054 transplantation Methods 0.000 description 1
- 238000012176 true single molecule sequencing Methods 0.000 description 1
- 210000004881 tumor cell Anatomy 0.000 description 1
- 238000010396 two-hybrid screening Methods 0.000 description 1
- 238000002604 ultrasonography Methods 0.000 description 1
- 239000013598 vector Substances 0.000 description 1
- 108700026220 vif Genes Proteins 0.000 description 1
- 230000000007 visual effect Effects 0.000 description 1
- 238000012800 visualization Methods 0.000 description 1
- 238000005303 weighing Methods 0.000 description 1
- 239000002023 wood Substances 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
- C12Q1/6844—Nucleic acid amplification reactions
- C12Q1/686—Polymerase chain reaction [PCR]
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
- G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Analytical Chemistry (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Evolutionary Biology (AREA)
- Organic Chemistry (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201261675020P | 2012-07-24 | 2012-07-24 | |
| US61/675,020 | 2012-07-24 | ||
| US13/683,604 US20130123120A1 (en) | 2010-05-18 | 2012-11-21 | Highly Multiplex PCR Methods and Compositions |
| US13/683,604 | 2012-11-21 | ||
| PCT/US2012/066339 WO2014018080A1 (en) | 2012-07-24 | 2012-11-21 | Highly multiplex pcr methods and compositions |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CA2877493A1 CA2877493A1 (en) | 2014-01-30 |
| CA2877493C true CA2877493C (en) | 2020-08-25 |
Family
ID=49997695
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CA2877493A Active CA2877493C (en) | 2012-07-24 | 2012-11-21 | Highly multiplex pcr methods and compositions |
Country Status (10)
| Country | Link |
|---|---|
| JP (10) | JP6392222B2 (ja) |
| KR (1) | KR101890466B1 (ja) |
| CN (1) | CN104685064A (ja) |
| AU (1) | AU2012385961B9 (ja) |
| CA (1) | CA2877493C (ja) |
| HK (1) | HK1211058A1 (ja) |
| IL (1) | IL236435A0 (ja) |
| RU (1) | RU2650790C2 (ja) |
| SG (1) | SG11201408813VA (ja) |
| WO (1) | WO2014018080A1 (ja) |
Families Citing this family (56)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
| CA2731991C (en) | 2008-08-04 | 2021-06-08 | Gene Security Network, Inc. | Methods for allele calling and ploidy calling |
| ES2640776T3 (es) | 2009-09-30 | 2017-11-06 | Natera, Inc. | Métodos para denominar de forma no invasiva ploidía prenatal |
| AU2011255641A1 (en) | 2010-05-18 | 2012-12-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US9677118B2 (en) | 2014-04-21 | 2017-06-13 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| ES2770342T3 (es) | 2010-12-22 | 2020-07-01 | Natera Inc | Procedimientos para pruebas prenatales no invasivas de paternidad |
| CA2824387C (en) | 2011-02-09 | 2019-09-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| CN103717751A (zh) | 2011-05-19 | 2014-04-09 | 塞昆纳姆股份有限公司 | 用于多重核酸鉴定的产品和方法 |
| RU2650790C2 (ru) * | 2012-07-24 | 2018-04-17 | Натера, Инк. | Способы и композиции для высокомультиплексной пцр |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| US9499870B2 (en) | 2013-09-27 | 2016-11-22 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| WO2015164432A1 (en) * | 2014-04-21 | 2015-10-29 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| RU2717641C2 (ru) | 2014-04-21 | 2020-03-24 | Натера, Инк. | Обнаружение мутаций и плоидности в хромосомных сегментах |
| EP3224376B2 (en) | 2014-11-28 | 2023-04-26 | uniQure IP B.V. | Dna impurities in a composition comprising a parvoviral virion |
| US20170349926A1 (en) * | 2014-12-22 | 2017-12-07 | DNAe Group Holdings LTD. | Bubble primers |
| WO2016172571A1 (en) | 2015-04-24 | 2016-10-27 | Agena Bioscience, Inc. | Multiplexed method for the identification and quantitation of minor alleles and polymorphisms |
| WO2016183106A1 (en) * | 2015-05-11 | 2016-11-17 | Natera, Inc. | Methods and compositions for determining ploidy |
| GB2539675B (en) * | 2015-06-23 | 2017-11-22 | Cs Genetics Ltd | Libraries of multimeric barcoding reagents and kits thereof for labelling nucleic acids for sequencing |
| JP2018530536A (ja) | 2015-09-11 | 2018-10-18 | ザ ジェネラル ホスピタル コーポレイション | ヌクレアーゼＤＳＢの完全照合およびシーケンシング（ＦＩＮＤ−ｓｅｑ） |
| ES2874275T3 (es) * | 2016-02-25 | 2021-11-04 | Hoffmann La Roche | Eliminación de las interacciones cebador-cebador durante la extensión del cebador |
| AU2017249594B2 (en) * | 2016-04-15 | 2023-08-24 | Natera, Inc. | Methods for lung cancer detection |
| MX2019001276A (es) * | 2016-07-29 | 2019-06-13 | Univ California | Viriones de virus adenoasociados con cápside variante y métodos para su uso. |
| CN109790587B (zh) * | 2016-09-30 | 2023-06-13 | 富士胶片株式会社 | 从100pg以下的人类基因组DNA判别其来源的方法、识别个人的方法及分析造血干细胞的植活程度的方法 |
| US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| EP3585889A1 (en) | 2017-02-21 | 2020-01-01 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| WO2019010456A1 (en) * | 2017-07-07 | 2019-01-10 | Stephen Quake | NON-INVASIVE PRENATAL DIAGNOSIS OF SINGLE GENE DISORDERS USING DIGITAL DROPLET PCR |
| KR101977976B1 (ko) * | 2017-08-10 | 2019-05-14 | 주식회사 엔젠바이오 | 앰플리콘 기반 차세대 염기서열 분석기법에서 프라이머 서열을 제거하여 분석의 정확도를 높이는 방법 |
| JP2020532967A (ja) | 2017-08-23 | 2020-11-19 | ザ ジェネラル ホスピタル コーポレイション | 変更されたＰＡＭ特異性を有する遺伝子操作されたＣＲＩＳＰＲ−Ｃａｓ９ヌクレアーゼ |
| EP3694993A4 (en) * | 2017-10-11 | 2021-10-13 | The General Hospital Corporation | METHOD OF DETECTING A SITE-SPECIFIC AND UNDESIRED GENOMIC DESAMINATION INDUCED BY BASE EDITING TECHNOLOGIES |
| CN108334745B (zh) * | 2018-03-19 | 2022-02-08 | 青岛理工大学 | 一种聚合酶链反应过程非线性混杂系统建模方法 |
| WO2019204378A1 (en) | 2018-04-17 | 2019-10-24 | The General Hospital Corporation | Sensitive in vitro assays for substrate preferences and sites of nucleic acid binding, modifying, and cleaving agents |
| US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| CA3107376A1 (en) | 2018-08-08 | 2020-02-13 | Inivata Ltd. | Method of sequencing using variable replicate multiplex pcr |
| CN112080558B (zh) * | 2019-06-13 | 2024-03-12 | 杭州贝瑞和康基因诊断技术有限公司 | 同时检测hba1/2和hbb基因突变的试剂盒和方法 |
| WO2021016402A1 (en) * | 2019-07-22 | 2021-01-28 | Mission Bio, Inc. | Using machine learning to optimize assays for single cell targeted dna sequencing |
| EP4077719A1 (en) * | 2019-12-16 | 2022-10-26 | Agilent Technologies, Inc. | Genomic scarring assays and related methods |
| JP7320468B2 (ja) | 2020-03-10 | 2023-08-03 | Ntn株式会社 | 操舵機能付ハブユニットおよびこれを備えた車両 |
| CN113979895B (zh) * | 2020-07-08 | 2023-03-24 | 中国科学技术大学 | 一种精确序列可控的自降解聚合物及其制备方法和应用 |
| WO2022076574A1 (en) * | 2020-10-08 | 2022-04-14 | Claret Bioscience, Llc | Methods and compositions for analyzing nucleic acid |
| EP4292825A1 (en) | 2021-03-18 | 2023-12-20 | Canon Kabushiki Kaisha | Liquid injection method, liquid injection device, and liquid cartridge |
| CA3230790A1 (en) | 2021-09-01 | 2023-03-09 | Natera, Inc. | Methods for non-invasive prenatal testing |
Family Cites Families (40)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US300235A (en) | 1884-06-10 | Chaeles b | ||
| US6479235B1 (en) * | 1994-09-30 | 2002-11-12 | Promega Corporation | Multiplex amplification of short tandem repeat loci |
| US6251604B1 (en) * | 1999-08-13 | 2001-06-26 | Genopsys, Inc. | Random mutagenesis and amplification of nucleic acid |
| AU2001238068A1 (en) * | 2000-02-07 | 2001-08-14 | Illumina, Inc. | Nucleic acid detection methods using universal priming |
| US7582420B2 (en) * | 2001-07-12 | 2009-09-01 | Illumina, Inc. | Multiplex nucleic acid reactions |
| CA2409774A1 (en) * | 2000-05-23 | 2001-11-29 | Variagenics, Inc. | Methods for genetic analysis of dna to detect sequence variances |
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| DE602004024034D1 (de) * | 2003-01-29 | 2009-12-24 | 454 Corp | Nukleinsäureamplifikation auf basis von kügelchenemulsion |
| CN1496413A (zh) * | 2003-05-09 | 2004-05-12 | 清华大学 | 用于多重pcr条件优化的方法和组分 |
| WO2005071078A1 (en) * | 2004-01-12 | 2005-08-04 | Nimblegen Systems Inc. | Method of performing pcr amplification on a microarray |
| US7618777B2 (en) * | 2005-03-16 | 2009-11-17 | Agilent Technologies, Inc. | Composition and method for array hybridization |
| US8515679B2 (en) | 2005-12-06 | 2013-08-20 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
| EP3591068A1 (en) | 2006-02-02 | 2020-01-08 | The Board of Trustees of the Leland Stanford Junior University | Non-invasive fetal genetic screening by digital analysis |
| WO2007111937A1 (en) * | 2006-03-23 | 2007-10-04 | Applera Corporation | Directed enrichment of genomic dna for high-throughput sequencing |
| JP2008125471A (ja) | 2006-11-22 | 2008-06-05 | Olympus Corp | マルチプレックスな核酸増幅方法 |
| WO2008088236A1 (ru) * | 2007-01-17 | 2008-07-24 | Uchrezhdenie Rossiiskoi Akademii Nauk Institut Molekulyarnoi Biologii Im. V.A. Engeldardta (Imb Ran ) | Способ генетической идентификации личности на основе анализа однонуклеотидного полиморфизма генома человека с использованием олигонуклеотидного биологического микрочипа (биочипа) |
| EP2121983A2 (en) * | 2007-02-02 | 2009-11-25 | Illumina Cambridge Limited | Methods for indexing samples and sequencing multiple nucleotide templates |
| US20090023190A1 (en) | 2007-06-20 | 2009-01-22 | Kai Qin Lao | Sequence amplification with loopable primers |
| WO2009032779A2 (en) * | 2007-08-29 | 2009-03-12 | Sequenom, Inc. | Methods and compositions for the size-specific seperation of nucleic acid from a sample |
| FR2925480B1 (fr) | 2007-12-21 | 2011-07-01 | Gervais Danone Sa | Procede d'enrichissement d'une eau en oxygene par voie electrolytique, eau ou boisson enrichie en oxygene et utilisations |
| EP2077337A1 (en) | 2007-12-26 | 2009-07-08 | Eppendorf Array Technologies SA | Amplification and detection composition, method and kit |
| US20110033862A1 (en) | 2008-02-19 | 2011-02-10 | Gene Security Network, Inc. | Methods for cell genotyping |
| US20110092763A1 (en) | 2008-05-27 | 2011-04-21 | Gene Security Network, Inc. | Methods for Embryo Characterization and Comparison |
| CA2731991C (en) | 2008-08-04 | 2021-06-08 | Gene Security Network, Inc. | Methods for allele calling and ploidy calling |
| CA3069081C (en) | 2008-09-20 | 2023-05-23 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| ES2640776T3 (es) | 2009-09-30 | 2017-11-06 | Natera, Inc. | Métodos para denominar de forma no invasiva ploidía prenatal |
| PT2496720T (pt) * | 2009-11-06 | 2020-10-12 | Univ Leland Stanford Junior | Diagnóstico não-invasivo de rejeição de enxertos em pacientes sujeitos a transplantes de órgãos |
| US20110312503A1 (en) * | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
| US8574832B2 (en) * | 2010-02-03 | 2013-11-05 | Massachusetts Institute Of Technology | Methods for preparing sequencing libraries |
| AU2011255641A1 (en) | 2010-05-18 | 2012-12-06 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| WO2013052557A2 (en) | 2011-10-03 | 2013-04-11 | Natera, Inc. | Methods for preimplantation genetic diagnosis by sequencing |
| EP2426217A1 (en) * | 2010-09-03 | 2012-03-07 | Centre National de la Recherche Scientifique (CNRS) | Analytical methods for cell free nucleic acids and applications |
| WO2012078792A2 (en) | 2010-12-07 | 2012-06-14 | Stanford University | Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale |
| JP5907990B2 (ja) * | 2010-12-17 | 2016-05-11 | ライフ テクノロジーズ コーポレーション | 核酸増幅のための方法、組成物、システム、装置およびキット |
| ES2770342T3 (es) * | 2010-12-22 | 2020-07-01 | Natera Inc | Procedimientos para pruebas prenatales no invasivas de paternidad |
| KR20230141927A (ko) * | 2010-12-30 | 2023-10-10 | 파운데이션 메디신 인코포레이티드 | 종양 샘플의 다유전자 분석의 최적화 |
| US20120190021A1 (en) | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
| CA2824387C (en) | 2011-02-09 | 2019-09-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| RU2650790C2 (ru) | 2012-07-24 | 2018-04-17 | Натера, Инк. | Способы и композиции для высокомультиплексной пцр |
-
2012
- 2012-11-21 RU RU2014152883A patent/RU2650790C2/ru active
- 2012-11-21 JP JP2015524243A patent/JP6392222B2/ja active Active
- 2012-11-21 CA CA2877493A patent/CA2877493C/en active Active
- 2012-11-21 CN CN201280075224.8A patent/CN104685064A/zh active Pending
- 2012-11-21 SG SG11201408813VA patent/SG11201408813VA/en unknown
- 2012-11-21 AU AU2012385961A patent/AU2012385961B9/en active Active
- 2012-11-21 WO PCT/US2012/066339 patent/WO2014018080A1/en active Application Filing
- 2012-11-21 KR KR1020157004509A patent/KR101890466B1/ko active IP Right Grant
-
2014
- 2014-12-24 IL IL236435A patent/IL236435A0/en unknown
-
2015
- 2015-12-02 HK HK15111834.0A patent/HK1211058A1/xx unknown
-
2018
- 2018-08-16 JP JP2018153048A patent/JP6916153B2/ja active Active
-
2020
- 2020-01-16 JP JP2020005462A patent/JP7027468B2/ja active Active
- 2020-01-16 JP JP2020005502A patent/JP6997815B2/ja active Active
- 2020-01-16 JP JP2020005470A patent/JP6997813B2/ja active Active
- 2020-01-16 JP JP2020005493A patent/JP6997814B2/ja active Active
-
2021
- 2021-12-17 JP JP2021204905A patent/JP7343563B2/ja active Active
- 2021-12-17 JP JP2021204979A patent/JP2022037145A/ja active Pending
- 2021-12-17 JP JP2021205050A patent/JP2022027975A/ja active Pending
-
2022
- 2022-02-14 JP JP2022020146A patent/JP7348330B2/ja active Active
Also Published As
| Publication number | Publication date |
|---|---|
| JP6997813B2 (ja) | 2022-02-10 |
| JP2020054401A (ja) | 2020-04-09 |
| JP6997814B2 (ja) | 2022-02-10 |
| AU2012385961A1 (en) | 2015-02-12 |
| SG11201408813VA (en) | 2015-02-27 |
| JP2020058388A (ja) | 2020-04-16 |
| JP2018183189A (ja) | 2018-11-22 |
| JP6916153B2 (ja) | 2021-08-11 |
| RU2014152883A (ru) | 2016-09-10 |
| KR101890466B1 (ko) | 2018-08-21 |
| JP6997815B2 (ja) | 2022-02-10 |
| RU2650790C2 (ru) | 2018-04-17 |
| JP7343563B2 (ja) | 2023-09-12 |
| CA2877493A1 (en) | 2014-01-30 |
| JP2022037145A (ja) | 2022-03-08 |
| JP7027468B2 (ja) | 2022-03-01 |
| JP7348330B2 (ja) | 2023-09-20 |
| KR20150038216A (ko) | 2015-04-08 |
| WO2014018080A1 (en) | 2014-01-30 |
| JP2015526073A (ja) | 2015-09-10 |
| JP2020054402A (ja) | 2020-04-09 |
| CN104685064A (zh) | 2015-06-03 |
| AU2012385961B2 (en) | 2017-04-13 |
| AU2012385961B9 (en) | 2017-05-18 |
| JP2020054400A (ja) | 2020-04-09 |
| JP2022051949A (ja) | 2022-04-01 |
| JP2022027975A (ja) | 2022-02-14 |
| JP6392222B2 (ja) | 2018-09-19 |
| JP2022027971A (ja) | 2022-02-14 |
| HK1211058A1 (en) | 2016-05-13 |
| IL236435A0 (en) | 2015-02-26 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US11482300B2 (en) | Methods for preparing a DNA fraction from a biological sample for analyzing genotypes of cell-free DNA | |
| US20200190573A1 (en) | Methods for non-invasive prenatal ploidy calling | |
| US11339429B2 (en) | Methods for non-invasive prenatal ploidy calling | |
| CA2877493C (en) | Highly multiplex pcr methods and compositions | |
| US20190309358A1 (en) | Methods for non-invasive prenatal ploidy calling | |
| US20190323076A1 (en) | Methods for non-invasive prenatal ploidy calling | |
| US20190284623A1 (en) | Methods for non-invasive prenatal ploidy calling | |
| US20190300950A1 (en) | Methods for non-invasive prenatal ploidy calling | |
| US20170051355A1 (en) | Highly multiplex pcr methods and compositions | |
| EP2847347B1 (en) | Highly multiplex pcr methods and compositions |
Legal Events
| Date | Code | Title | Description |
|---|---|---|---|
| EEER | Examination request |
Effective date: 20171114 |