ES2934941T3 - Análisis genómico fetal a partir de una muestra biológica materna - Google Patents
Análisis genómico fetal a partir de una muestra biológica materna Download PDFInfo
- Publication number
- ES2934941T3 ES2934941T3 ES20200970T ES20200970T ES2934941T3 ES 2934941 T3 ES2934941 T3 ES 2934941T3 ES 20200970 T ES20200970 T ES 20200970T ES 20200970 T ES20200970 T ES 20200970T ES 2934941 T3 ES2934941 T3 ES 2934941T3
- Authority
- ES
- Spain
- Prior art keywords
- maternal
- allele
- fetal
- loci
- genome
- 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
- 230000008774 maternal effect Effects 0.000 title claims abstract description 261
- 230000001605 fetal effect Effects 0.000 title claims abstract description 258
- 239000012472 biological sample Substances 0.000 title claims description 39
- 238000011331 genomic analysis Methods 0.000 title description 4
- 108700028369 Alleles Proteins 0.000 claims abstract description 255
- 238000004458 analytical method Methods 0.000 claims abstract description 120
- 238000000034 method Methods 0.000 claims abstract description 109
- 230000008775 paternal effect Effects 0.000 claims abstract description 56
- 210000003754 fetus Anatomy 0.000 claims description 160
- 238000012163 sequencing technique Methods 0.000 claims description 117
- 150000007523 nucleic acids Chemical class 0.000 claims description 96
- 102000039446 nucleic acids Human genes 0.000 claims description 89
- 108020004707 nucleic acids Proteins 0.000 claims description 89
- 238000009826 distribution Methods 0.000 claims description 38
- 238000007847 digital PCR Methods 0.000 claims description 13
- 239000000203 mixture Substances 0.000 claims description 6
- 238000003753 real-time PCR Methods 0.000 claims description 6
- 238000004590 computer program Methods 0.000 claims description 5
- 238000002493 microarray Methods 0.000 claims description 5
- 230000003321 amplification Effects 0.000 claims description 4
- 238000004949 mass spectrometry Methods 0.000 claims description 4
- 238000003199 nucleic acid amplification method Methods 0.000 claims description 4
- 238000009396 hybridization Methods 0.000 claims description 3
- 102000054766 genetic haplotypes Human genes 0.000 abstract description 207
- 230000035772 mutation Effects 0.000 abstract description 57
- 239000012634 fragment Substances 0.000 abstract description 48
- 108020004414 DNA Proteins 0.000 description 205
- 102000053602 DNA Human genes 0.000 description 205
- 239000000523 sample Substances 0.000 description 69
- 210000000349 chromosome Anatomy 0.000 description 62
- 210000004027 cell Anatomy 0.000 description 37
- 230000002068 genetic effect Effects 0.000 description 32
- 108090000623 proteins and genes Proteins 0.000 description 26
- 238000013459 approach Methods 0.000 description 19
- 230000002759 chromosomal effect Effects 0.000 description 19
- 238000003205 genotyping method Methods 0.000 description 16
- 230000006798 recombination Effects 0.000 description 15
- 238000005215 recombination Methods 0.000 description 15
- 238000004364 calculation method Methods 0.000 description 14
- 239000002773 nucleotide Substances 0.000 description 14
- 125000003729 nucleotide group Chemical group 0.000 description 14
- 238000001514 detection method Methods 0.000 description 13
- 102000054765 polymorphisms of proteins Human genes 0.000 description 13
- 238000001712 DNA sequencing Methods 0.000 description 12
- 210000001766 X chromosome Anatomy 0.000 description 11
- 210000004369 blood Anatomy 0.000 description 11
- 239000008280 blood Substances 0.000 description 11
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 10
- 238000003752 polymerase chain reaction Methods 0.000 description 10
- 210000002966 serum Anatomy 0.000 description 10
- 108020004705 Codon Proteins 0.000 description 9
- 108091028043 Nucleic acid sequence Proteins 0.000 description 9
- 208000026350 Inborn Genetic disease Diseases 0.000 description 8
- 108010047956 Nucleosomes Proteins 0.000 description 8
- 238000012217 deletion Methods 0.000 description 8
- 201000010099 disease Diseases 0.000 description 8
- 208000016361 genetic disease Diseases 0.000 description 8
- 210000001623 nucleosome Anatomy 0.000 description 8
- 238000003793 prenatal diagnosis Methods 0.000 description 8
- 206010071602 Genetic polymorphism Diseases 0.000 description 7
- 108010033040 Histones Proteins 0.000 description 7
- 230000008569 process Effects 0.000 description 7
- 102000006947 Histones Human genes 0.000 description 6
- 208000005980 beta thalassemia Diseases 0.000 description 6
- 238000004422 calculation algorithm Methods 0.000 description 6
- 239000003153 chemical reaction reagent Substances 0.000 description 6
- 230000037430 deletion Effects 0.000 description 6
- 230000035935 pregnancy Effects 0.000 description 6
- 230000007067 DNA methylation Effects 0.000 description 5
- 238000003556 assay Methods 0.000 description 5
- 238000010276 construction Methods 0.000 description 5
- 102000004169 proteins and genes Human genes 0.000 description 5
- 101000899111 Homo sapiens Hemoglobin subunit beta Proteins 0.000 description 4
- 208000036878 aneuploidy Diseases 0.000 description 4
- 231100001075 aneuploidy Toxicity 0.000 description 4
- 238000005516 engineering process Methods 0.000 description 4
- 238000002474 experimental method Methods 0.000 description 4
- 230000006870 function Effects 0.000 description 4
- 238000001114 immunoprecipitation Methods 0.000 description 4
- 238000013507 mapping Methods 0.000 description 4
- 239000000463 material Substances 0.000 description 4
- 230000009467 reduction Effects 0.000 description 4
- 241000894007 species Species 0.000 description 4
- 238000012109 statistical procedure Methods 0.000 description 4
- 230000008685 targeting Effects 0.000 description 4
- 210000002700 urine Anatomy 0.000 description 4
- 238000003766 bioinformatics method Methods 0.000 description 3
- 230000005540 biological transmission Effects 0.000 description 3
- 210000004252 chorionic villi Anatomy 0.000 description 3
- 239000000470 constituent Substances 0.000 description 3
- 230000000694 effects Effects 0.000 description 3
- 238000004519 manufacturing process Methods 0.000 description 3
- 230000003287 optical effect Effects 0.000 description 3
- 238000000746 purification Methods 0.000 description 3
- 229920002477 rna polymer Polymers 0.000 description 3
- 238000005070 sampling Methods 0.000 description 3
- 239000004055 small Interfering RNA Substances 0.000 description 3
- 239000007787 solid Substances 0.000 description 3
- 102100033743 Biotin-[acetyl-CoA-carboxylase] ligase Human genes 0.000 description 2
- 108010079245 Cystic Fibrosis Transmembrane Conductance Regulator Proteins 0.000 description 2
- 201000003883 Cystic fibrosis Diseases 0.000 description 2
- 102100023419 Cystic fibrosis transmembrane conductance regulator Human genes 0.000 description 2
- KCXVZYZYPLLWCC-UHFFFAOYSA-N EDTA Chemical compound OC(=O)CN(CC(O)=O)CCN(CC(O)=O)CC(O)=O KCXVZYZYPLLWCC-UHFFFAOYSA-N 0.000 description 2
- 108700024394 Exon Proteins 0.000 description 2
- 208000035920 Hemoglobin E disease Diseases 0.000 description 2
- 208000009292 Hemophilia A Diseases 0.000 description 2
- 108091092195 Intron Proteins 0.000 description 2
- 208000024556 Mendelian disease Diseases 0.000 description 2
- 108091034117 Oligonucleotide Proteins 0.000 description 2
- 238000002944 PCR assay Methods 0.000 description 2
- 101150084935 PTER gene Proteins 0.000 description 2
- 108091027967 Small hairpin RNA Proteins 0.000 description 2
- 210000002593 Y chromosome Anatomy 0.000 description 2
- 201000006288 alpha thalassemia Diseases 0.000 description 2
- 208000025341 autosomal recessive disease Diseases 0.000 description 2
- 239000000969 carrier Substances 0.000 description 2
- 238000005119 centrifugation Methods 0.000 description 2
- 230000000295 complement effect Effects 0.000 description 2
- 230000001186 cumulative effect Effects 0.000 description 2
- 238000012350 deep sequencing Methods 0.000 description 2
- 208000035475 disorder Diseases 0.000 description 2
- 230000001973 epigenetic effect Effects 0.000 description 2
- 230000003485 founder effect Effects 0.000 description 2
- 238000005194 fractionation Methods 0.000 description 2
- 238000003384 imaging method Methods 0.000 description 2
- 239000003550 marker Substances 0.000 description 2
- 108091070501 miRNA Proteins 0.000 description 2
- 239000002679 microRNA Substances 0.000 description 2
- 210000005259 peripheral blood Anatomy 0.000 description 2
- 239000011886 peripheral blood Substances 0.000 description 2
- 210000004976 peripheral blood cell 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
- 238000002360 preparation method Methods 0.000 description 2
- 238000011160 research Methods 0.000 description 2
- 238000000926 separation method Methods 0.000 description 2
- 208000007056 sickle cell anemia Diseases 0.000 description 2
- 238000003860 storage Methods 0.000 description 2
- 238000006467 substitution reaction Methods 0.000 description 2
- 210000001519 tissue Anatomy 0.000 description 2
- 210000002993 trophoblast Anatomy 0.000 description 2
- VGONTNSXDCQUGY-RRKCRQDMSA-N 2'-deoxyinosine Chemical group C1[C@H](O)[C@@H](CO)O[C@H]1N1C(N=CNC2=O)=C2N=C1 VGONTNSXDCQUGY-RRKCRQDMSA-N 0.000 description 1
- 101710145299 Biotin-[acetyl-CoA-carboxylase] ligase Proteins 0.000 description 1
- 101150029409 CFTR gene Proteins 0.000 description 1
- 206010008723 Chondrodystrophy Diseases 0.000 description 1
- 108010077544 Chromatin Proteins 0.000 description 1
- 206010008805 Chromosomal abnormalities Diseases 0.000 description 1
- 208000031404 Chromosome Aberrations Diseases 0.000 description 1
- 208000011359 Chromosome disease Diseases 0.000 description 1
- 102100026735 Coagulation factor VIII Human genes 0.000 description 1
- 108091026890 Coding region Proteins 0.000 description 1
- 201000010374 Down Syndrome Diseases 0.000 description 1
- 206010013801 Duchenne Muscular Dystrophy Diseases 0.000 description 1
- 201000003542 Factor VIII deficiency Diseases 0.000 description 1
- 108091005904 Hemoglobin subunit beta Proteins 0.000 description 1
- 102100021519 Hemoglobin subunit beta Human genes 0.000 description 1
- 208000031220 Hemophilia Diseases 0.000 description 1
- 102100039869 Histone H2B type F-S Human genes 0.000 description 1
- 101000911390 Homo sapiens Coagulation factor VIII Proteins 0.000 description 1
- 101001035372 Homo sapiens Histone H2B type F-S Proteins 0.000 description 1
- 102000003960 Ligases Human genes 0.000 description 1
- 108090000364 Ligases Proteins 0.000 description 1
- 238000003657 Likelihood-ratio test Methods 0.000 description 1
- 108010085747 Methylmalonyl-CoA Decarboxylase Proteins 0.000 description 1
- 108091092878 Microsatellite Proteins 0.000 description 1
- 206010028980 Neoplasm Diseases 0.000 description 1
- 238000012408 PCR amplification Methods 0.000 description 1
- 108091007412 Piwi-interacting RNA Proteins 0.000 description 1
- 108010090804 Streptavidin Proteins 0.000 description 1
- 206010044688 Trisomy 21 Diseases 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
- 208000008919 achondroplasia Diseases 0.000 description 1
- 239000000654 additive Substances 0.000 description 1
- 230000000996 additive effect Effects 0.000 description 1
- 238000007844 allele-specific PCR Methods 0.000 description 1
- 230000001640 apoptogenic effect Effects 0.000 description 1
- 239000011324 bead Substances 0.000 description 1
- 230000009286 beneficial effect Effects 0.000 description 1
- 210000000601 blood cell Anatomy 0.000 description 1
- 230000023555 blood coagulation Effects 0.000 description 1
- 238000005251 capillar electrophoresis Methods 0.000 description 1
- 238000004850 capillary HPLC Methods 0.000 description 1
- 230000008859 change Effects 0.000 description 1
- 238000006243 chemical reaction Methods 0.000 description 1
- 210000003483 chromatin Anatomy 0.000 description 1
- 208000024971 chromosomal disease Diseases 0.000 description 1
- 238000003759 clinical diagnosis Methods 0.000 description 1
- 238000010367 cloning Methods 0.000 description 1
- 239000002299 complementary DNA Substances 0.000 description 1
- 239000007771 core particle Substances 0.000 description 1
- 238000007418 data mining Methods 0.000 description 1
- 230000001419 dependent effect Effects 0.000 description 1
- 238000009795 derivation Methods 0.000 description 1
- 238000013461 design Methods 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 238000010586 diagram Methods 0.000 description 1
- 230000004069 differentiation Effects 0.000 description 1
- 238000005315 distribution function Methods 0.000 description 1
- 230000002255 enzymatic effect Effects 0.000 description 1
- 238000001976 enzyme digestion Methods 0.000 description 1
- 230000001747 exhibiting effect Effects 0.000 description 1
- 238000000605 extraction Methods 0.000 description 1
- 238000001914 filtration Methods 0.000 description 1
- 239000012530 fluid Substances 0.000 description 1
- 238000007672 fourth generation sequencing Methods 0.000 description 1
- 230000006543 gametophyte development Effects 0.000 description 1
- 238000001502 gel electrophoresis Methods 0.000 description 1
- 230000007614 genetic variation Effects 0.000 description 1
- 230000003394 haemopoietic effect Effects 0.000 description 1
- 210000003780 hair follicle Anatomy 0.000 description 1
- 230000002489 hematologic effect Effects 0.000 description 1
- 210000003958 hematopoietic stem cell Anatomy 0.000 description 1
- 208000034737 hemoglobinopathy Diseases 0.000 description 1
- 230000003301 hydrolyzing effect Effects 0.000 description 1
- 230000002998 immunogenetic effect Effects 0.000 description 1
- 238000000126 in silico method Methods 0.000 description 1
- 208000018337 inherited hemoglobinopathy Diseases 0.000 description 1
- 230000004807 localization Effects 0.000 description 1
- 230000014759 maintenance of location Effects 0.000 description 1
- 239000011159 matrix material Substances 0.000 description 1
- 238000005259 measurement Methods 0.000 description 1
- 108020004999 messenger RNA Proteins 0.000 description 1
- 238000010208 microarray analysis Methods 0.000 description 1
- 238000005065 mining Methods 0.000 description 1
- 230000002438 mitochondrial effect Effects 0.000 description 1
- 108091027963 non-coding RNA Proteins 0.000 description 1
- 102000042567 non-coding RNA Human genes 0.000 description 1
- 210000000056 organ Anatomy 0.000 description 1
- 230000002093 peripheral effect Effects 0.000 description 1
- 210000002826 placenta Anatomy 0.000 description 1
- 230000003169 placental effect Effects 0.000 description 1
- 210000005059 placental tissue Anatomy 0.000 description 1
- 229920000642 polymer Polymers 0.000 description 1
- 229920001184 polypeptide Polymers 0.000 description 1
- 238000009609 prenatal screening Methods 0.000 description 1
- 102000004196 processed proteins & peptides Human genes 0.000 description 1
- 108090000765 processed proteins & peptides Proteins 0.000 description 1
- 238000012545 processing Methods 0.000 description 1
- 238000003908 quality control method Methods 0.000 description 1
- 238000012950 reanalysis Methods 0.000 description 1
- 230000007261 regionalization Effects 0.000 description 1
- 108091008146 restriction endonucleases Proteins 0.000 description 1
- 210000003296 saliva Anatomy 0.000 description 1
- 230000011218 segmentation Effects 0.000 description 1
- 210000003765 sex chromosome Anatomy 0.000 description 1
- 230000020509 sex determination Effects 0.000 description 1
- 239000000344 soap Substances 0.000 description 1
- 230000021595 spermatogenesis Effects 0.000 description 1
- 238000010972 statistical evaluation Methods 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 230000001629 suppression Effects 0.000 description 1
- 238000012360 testing method Methods 0.000 description 1
- 238000009966 trimming Methods 0.000 description 1
- 230000036266 weeks of gestation Effects 0.000 description 1
- 238000012070 whole genome sequencing analysis Methods 0.000 description 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—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
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
-
- 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
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- 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
-
- 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
- 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
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
-
- 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
- C12Q2600/154—Methylation markers
-
- 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
-
- Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
- Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
- Y10T—TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
- Y10T436/00—Chemistry: analytical and immunological testing
- Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
- Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
- Y10T436/143333—Saccharide [e.g., DNA, etc.]
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Medical Informatics (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Theoretical Computer Science (AREA)
- Molecular Biology (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Immunology (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Epidemiology (AREA)
- Evolutionary Computation (AREA)
- Bioethics (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Data Mining & Analysis (AREA)
- Databases & Information Systems (AREA)
- Artificial Intelligence (AREA)
- Software Systems (AREA)
- Public Health (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Ultra Sonic Daignosis Equipment (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US25856709P | 2009-11-05 | 2009-11-05 | |
| US25907509P | 2009-11-06 | 2009-11-06 | |
| US38185410P | 2010-09-10 | 2010-09-10 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2934941T3 true ES2934941T3 (es) | 2023-02-28 |
Family
ID=43500337
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES20200970T Active ES2934941T3 (es) | 2009-11-05 | 2010-11-05 | Análisis genómico fetal a partir de una muestra biológica materna |
| ES10782468.2T Active ES2628874T3 (es) | 2009-11-05 | 2010-11-05 | Análisis genómico fetal a partir de una muestra biológica materna |
| ES17168527T Active ES2720282T3 (es) | 2009-11-05 | 2010-11-05 | Análisis genómico fetal a partir de una muestra biológica materna |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES10782468.2T Active ES2628874T3 (es) | 2009-11-05 | 2010-11-05 | Análisis genómico fetal a partir de una muestra biológica materna |
| ES17168527T Active ES2720282T3 (es) | 2009-11-05 | 2010-11-05 | Análisis genómico fetal a partir de una muestra biológica materna |
Country Status (24)
| Country | Link |
|---|---|
| US (5) | US8467976B2 (enExample) |
| EP (5) | EP2496717B1 (enExample) |
| JP (3) | JP5540105B2 (enExample) |
| CN (2) | CN105779280B (enExample) |
| AU (1) | AU2010315037B9 (enExample) |
| BR (1) | BR112012010694B8 (enExample) |
| CA (1) | CA2779695C (enExample) |
| CY (1) | CY1122003T1 (enExample) |
| DK (3) | DK3241914T3 (enExample) |
| EA (1) | EA033752B1 (enExample) |
| ES (3) | ES2934941T3 (enExample) |
| FI (1) | FI3783110T3 (enExample) |
| HR (2) | HRP20230134T1 (enExample) |
| HU (3) | HUE034854T2 (enExample) |
| IL (3) | IL219521A (enExample) |
| LT (2) | LT3783110T (enExample) |
| MX (3) | MX355132B (enExample) |
| PL (3) | PL3241914T3 (enExample) |
| PT (3) | PT3783110T (enExample) |
| RS (2) | RS63944B1 (enExample) |
| SI (2) | SI3241914T1 (enExample) |
| SM (2) | SMT201900229T1 (enExample) |
| TW (1) | TWI458976B (enExample) |
| WO (1) | WO2011057094A1 (enExample) |
Families Citing this family (213)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| US11111544B2 (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 |
| US11111543B2 (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 |
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US8609338B2 (en) | 2006-02-28 | 2013-12-17 | University Of Louisville Research Foundation, Inc. | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| DK2351858T3 (da) | 2006-02-28 | 2015-04-07 | Univ Louisville Res Found | Påvisning af føtale kromosomabnormiteter ved anvendelse af tandem-enkeltnukleotid-polymorfismer |
| US20080070792A1 (en) | 2006-06-14 | 2008-03-20 | Roland Stoughton | Use of highly parallel snp genotyping for fetal diagnosis |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| WO2009105531A1 (en) * | 2008-02-19 | 2009-08-27 | Gene Security Network, Inc. | Methods for cell genotyping |
| EP2271772B1 (en) * | 2008-03-11 | 2014-07-16 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
| US20110092763A1 (en) * | 2008-05-27 | 2011-04-21 | Gene Security Network, Inc. | Methods for Embryo Characterization and Comparison |
| AU2009279734A1 (en) * | 2008-08-04 | 2010-02-11 | Natera, Inc. | Methods for allele calling and ploidy calling |
| US8476013B2 (en) | 2008-09-16 | 2013-07-02 | Sequenom, Inc. | Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| US8962247B2 (en) | 2008-09-16 | 2015-02-24 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses |
| US9524369B2 (en) | 2009-06-15 | 2016-12-20 | Complete Genomics, Inc. | Processing and analysis of complex nucleic acid sequence data |
| CN102597266A (zh) | 2009-09-30 | 2012-07-18 | 纳特拉公司 | 无创性产前倍性调用的方法 |
| LT3783110T (lt) | 2009-11-05 | 2023-01-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| EP2504448B1 (en) * | 2009-11-25 | 2016-10-19 | Bio-Rad Laboratories, Inc. | Methods and compositions for detecting genetic material |
| DK2516680T3 (en) | 2009-12-22 | 2016-05-02 | Sequenom Inc | Method and kits to identify aneuploidy |
| CA2786564A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| PL2366031T3 (pl) | 2010-01-19 | 2015-08-31 | Verinata Health Inc | Metody sekwencjonowania w diagnostyce prenatalnej |
| US20120100548A1 (en) | 2010-10-26 | 2012-04-26 | Verinata Health, Inc. | Method for determining copy number variations |
| AU2011207561B2 (en) | 2010-01-19 | 2014-02-20 | Verinata Health, Inc. | Partition defined detection methods |
| US20120010085A1 (en) | 2010-01-19 | 2012-01-12 | Rava Richard P | Methods for determining fraction of fetal nucleic acids in maternal samples |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US20110312503A1 (en) | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | 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 |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US8825412B2 (en) | 2010-05-18 | 2014-09-02 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | 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 |
| 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 |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | 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 |
| CN103069006A (zh) * | 2010-07-23 | 2013-04-24 | 艾索特里克斯遗传实验室有限责任公司 | 区别表达的胚胎或母源基因组区的鉴定及其用途 |
| US10533223B2 (en) | 2010-08-06 | 2020-01-14 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| US10167508B2 (en) | 2010-08-06 | 2019-01-01 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| US11031095B2 (en) | 2010-08-06 | 2021-06-08 | Ariosa Diagnostics, Inc. | Assay systems for determination of fetal copy number variation |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| EP2646579B1 (en) | 2010-11-30 | 2017-06-14 | The Chinese University Of Hong Kong | Detection of genetic or molecular aberrations associated with cancer |
| US8877442B2 (en) * | 2010-12-07 | 2014-11-04 | The Board Of Trustees Of The Leland Stanford Junior University | Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale |
| EP2656263B1 (en) | 2010-12-22 | 2019-11-06 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US8756020B2 (en) * | 2011-01-25 | 2014-06-17 | Ariosa Diagnostics, Inc. | Enhanced risk probabilities using biomolecule estimations |
| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| WO2012103031A2 (en) * | 2011-01-25 | 2012-08-02 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| US9994897B2 (en) | 2013-03-08 | 2018-06-12 | Ariosa Diagnostics, Inc. | Non-invasive fetal sex determination |
| US10131947B2 (en) | 2011-01-25 | 2018-11-20 | Ariosa Diagnostics, Inc. | Noninvasive detection of fetal aneuploidy in egg donor pregnancies |
| EP2673380B1 (en) | 2011-02-09 | 2018-12-12 | Bio-Rad Laboratories, Inc. | Analysis of nucleic acids |
| RU2671980C2 (ru) | 2011-02-09 | 2018-11-08 | Натера, Инк. | Способы неинвазивного пренатального установления плоидности |
| US10900080B2 (en) | 2011-02-24 | 2021-01-26 | The Chinese University Of Hong Kong | Molecular testing of multiple pregnancies |
| ES2806728T3 (es) * | 2011-04-12 | 2021-02-18 | Verinata Health Inc | Resolución de fracciones de genoma usando recuentos de polimorfismos |
| GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
| US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| WO2012177792A2 (en) | 2011-06-24 | 2012-12-27 | Sequenom, Inc. | Methods and processes for non-invasive assessment of a genetic variation |
| US9679103B2 (en) | 2011-08-25 | 2017-06-13 | Complete Genomics, Inc. | Phasing of heterozygous loci to determine genomic haplotypes |
| US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2013052907A2 (en) | 2011-10-06 | 2013-04-11 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
| US10196681B2 (en) | 2011-10-06 | 2019-02-05 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| AU2013209499B2 (en) | 2012-01-20 | 2018-05-10 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| US9238836B2 (en) | 2012-03-30 | 2016-01-19 | Pacific Biosciences Of California, Inc. | Methods and compositions for sequencing modified nucleic acids |
| WO2013130848A1 (en) * | 2012-02-29 | 2013-09-06 | Natera, Inc. | Informatics enhanced analysis of fetal samples subject to maternal contamination |
| US9605313B2 (en) * | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9892230B2 (en) | 2012-03-08 | 2018-02-13 | The Chinese University Of Hong Kong | Size-based analysis of fetal or tumor DNA fraction in plasma |
| WO2013138527A1 (en) | 2012-03-13 | 2013-09-19 | The Chinese University Of Hong Kong | Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis |
| PL2851431T3 (pl) * | 2012-05-14 | 2018-04-30 | Bgi Genomics Co., Ltd. | Sposób, system i odczytywalny komputerowo nośnik do określania informacji o zasadach we wcześniej określonym obszarze genomu płodu |
| US9920361B2 (en) | 2012-05-21 | 2018-03-20 | Sequenom, Inc. | Methods and compositions for analyzing nucleic acid |
| US10504613B2 (en) | 2012-12-20 | 2019-12-10 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US10289800B2 (en) | 2012-05-21 | 2019-05-14 | Ariosa Diagnostics, Inc. | Processes for calculating phased fetal genomic sequences |
| US20150105267A1 (en) * | 2012-05-24 | 2015-04-16 | University Of Washington Through Its Center For Commercialization | Whole genome sequencing of a human fetus |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US10497461B2 (en) | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20150167068A1 (en) * | 2012-07-13 | 2015-06-18 | Life Technologies Corporation | HUMAN IDENTIFICATION USING A PANEL OF SNPs |
| HK1206792A1 (en) * | 2012-07-13 | 2016-01-15 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| AU2013292287A1 (en) | 2012-07-19 | 2015-02-19 | Ariosa Diagnostics, Inc. | Multiplexed sequential ligation-based detection of genetic variants |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| US20140065621A1 (en) * | 2012-09-04 | 2014-03-06 | Natera, Inc. | Methods for increasing fetal fraction in maternal blood |
| WO2014039875A1 (en) * | 2012-09-06 | 2014-03-13 | Ancestry.Com Dna, Llc | Using haplotypes to infer ancestral origins for recently admixed individuals |
| US10706957B2 (en) | 2012-09-20 | 2020-07-07 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of tumor from plasma |
| US9732390B2 (en) | 2012-09-20 | 2017-08-15 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
| EP2898100B9 (en) * | 2012-09-20 | 2023-08-02 | The Chinese University Of Hong Kong | Non-invasive determination of methylome of fetus or tumor from plasma |
| US10482994B2 (en) * | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US9213944B1 (en) | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Trio-based phasing using a dynamic Bayesian network |
| US9213947B1 (en) | 2012-11-08 | 2015-12-15 | 23Andme, Inc. | Scalable pipeline for local ancestry inference |
| US10643738B2 (en) * | 2013-01-10 | 2020-05-05 | The Chinese University Of Hong Kong | Noninvasive prenatal molecular karyotyping from maternal plasma |
| WO2014113204A1 (en) | 2013-01-17 | 2014-07-24 | Personalis, Inc. | Methods and systems for genetic analysis |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| JP6525894B2 (ja) | 2013-02-28 | 2019-06-05 | ザ チャイニーズ ユニバーシティ オブ ホンコン | 超並列ｒｎａ配列決定による母体血漿のトランスクリプトーム解析 |
| EP3597774A1 (en) | 2013-03-13 | 2020-01-22 | Sequenom, Inc. | Primers for dna methylation analysis |
| CA2901773A1 (en) * | 2013-03-15 | 2014-09-18 | The Chinese University Of Hong Kong | Determining fetal genomes for multiple fetus pregnancies |
| EP2981921B1 (en) | 2013-04-03 | 2023-01-18 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2014180910A1 (en) * | 2013-05-09 | 2014-11-13 | Roche Diagnostics Gmbh | Method of determining the fraction of fetal dna in maternal blood using hla markers |
| CN112575075B (zh) | 2013-05-24 | 2025-09-16 | 塞昆纳姆股份有限公司 | 遗传变异的非侵入性评估方法和过程 |
| IL283586B2 (en) | 2013-06-21 | 2023-11-01 | Sequenom Inc | Methods and processes for non-invasive evaluation of genetic variations |
| US20150004601A1 (en) * | 2013-06-28 | 2015-01-01 | Ariosa Diagnostics, Inc. | Massively parallel sequencing of random dna fragments for determination of fetal fraction |
| GB201318369D0 (en) * | 2013-10-17 | 2013-12-04 | Univ Leuven Kath | Methods using BAF |
| GB2534067B (en) | 2013-08-30 | 2021-07-21 | Personalis Inc | Methods and systems for genomic analysis |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US9499870B2 (en) | 2013-09-27 | 2016-11-22 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| WO2015051275A1 (en) | 2013-10-03 | 2015-04-09 | Personalis, Inc. | Methods for analyzing genotypes |
| PL3053071T3 (pl) | 2013-10-04 | 2024-03-18 | Sequenom, Inc. | Metody i procesy nieinwazyjnej oceny zmienności genetycznych |
| US10438691B2 (en) | 2013-10-07 | 2019-10-08 | Sequenom, Inc. | Non-invasive assessment of chromosome alterations using change in subsequence mappability |
| WO2015138774A1 (en) | 2014-03-13 | 2015-09-17 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| JP6659575B2 (ja) | 2014-04-21 | 2020-03-04 | ナテラ， インコーポレイテッド | 変異の検出および染色体分節の倍数性 |
| US20180173845A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| US10119167B2 (en) | 2014-07-18 | 2018-11-06 | Illumina, Inc. | Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA |
| US20160026759A1 (en) * | 2014-07-22 | 2016-01-28 | Yourgene Bioscience | Detecting Chromosomal Aneuploidy |
| JP2017522908A (ja) | 2014-07-25 | 2017-08-17 | ユニヴァーシティ オブ ワシントン | セルフリーｄｎａを生じる組織及び／又は細胞タイプを決定する方法、並びにそれを用いて疾患又は異常を識別する方法 |
| EP3760739B1 (en) | 2014-07-30 | 2025-09-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN104182655B (zh) * | 2014-09-01 | 2017-03-08 | 上海美吉生物医药科技有限公司 | 一种判断胎儿基因型的方法 |
| CN104232778B (zh) * | 2014-09-19 | 2016-08-17 | 天津华大基因科技有限公司 | 同时确定胎儿单体型及染色体非整倍性的方法及装置 |
| US10612080B2 (en) * | 2014-09-22 | 2020-04-07 | Roche Molecular Systems, Inc. | Digital PCR for non-invasive prenatal testing |
| EP3212808B1 (en) | 2014-10-30 | 2022-03-02 | Personalis, Inc. | Methods for using mosaicism in nucleic acids sampled distal to their origin |
| CN105648045B (zh) * | 2014-11-13 | 2019-10-11 | 天津华大基因科技有限公司 | 确定胎儿目标区域单体型的方法和装置 |
| CN105648044B (zh) * | 2014-11-13 | 2019-10-11 | 天津华大基因科技有限公司 | 确定胎儿目标区域单体型的方法和装置 |
| CN104561311B (zh) * | 2015-01-04 | 2016-08-17 | 北京大学第三医院 | 一种来自人辅助生殖胚胎发育早期出生安全性预测的试剂盒 |
| CN104561309B (zh) * | 2015-01-04 | 2017-04-19 | 北京积水潭医院 | 一种来自人辅助生殖囊胚植入前进行出生安全性预测的试剂盒 |
| US10364467B2 (en) | 2015-01-13 | 2019-07-30 | The Chinese University Of Hong Kong | Using size and number aberrations in plasma DNA for detecting cancer |
| WO2016112539A1 (zh) * | 2015-01-16 | 2016-07-21 | 深圳华大基因股份有限公司 | 确定胎儿核酸含量的方法和装置 |
| DK3256605T3 (da) * | 2015-02-10 | 2022-03-14 | Univ Hong Kong Chinese | Påvisning af mutationer til cancerscreening og føtal analyse |
| US10424396B2 (en) * | 2015-03-27 | 2019-09-24 | Sentieon Inc. | Computation pipeline of location-dependent variant calls |
| EP4428863A3 (en) | 2015-05-11 | 2024-12-11 | Natera, Inc. | Methods and compositions for determining ploidy |
| WO2016187234A1 (en) * | 2015-05-18 | 2016-11-24 | Karius, Inc. | Compositions and methods for enriching populations of nucleic acids |
| US12018314B2 (en) | 2015-07-02 | 2024-06-25 | Arima Genomics, Inc. | Accurate molecular deconvolution of mixture samples |
| EP3739061B1 (en) | 2015-07-20 | 2022-03-23 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in tissues in dna mixture |
| ES2960201T3 (es) | 2015-07-23 | 2024-03-01 | Univ Hong Kong Chinese | Análisis de los patrones de fragmentación del ADN acelular |
| MY188348A (en) | 2015-08-12 | 2021-12-02 | Univ Hong Kong Chinese | Single-molecule sequencing of plasma dna |
| TWI858334B (zh) | 2015-09-22 | 2024-10-11 | 香港中文大學 | 藉由母體血漿ｄｎａ之淺深度測序以準確定量胎兒dna含量 |
| GB201518665D0 (en) | 2015-10-21 | 2015-12-02 | Singapore Volition Pte Ltd | Method for enrichment of cell free nucleosomes |
| CN105335625B (zh) * | 2015-11-04 | 2018-02-16 | 和卓生物科技（上海）有限公司 | 胚胎植入前的遗传学检测装置 |
| WO2017181202A2 (en) | 2016-04-15 | 2017-10-19 | Natera, Inc. | Methods for lung cancer detection |
| CN105926043B (zh) * | 2016-04-19 | 2018-08-28 | 苏州贝康医疗器械有限公司 | 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法 |
| WO2017193044A1 (en) * | 2016-05-06 | 2017-11-09 | Counsyl, Inc. | Noninvasive prenatal diagnostic |
| US11299783B2 (en) | 2016-05-27 | 2022-04-12 | Personalis, Inc. | Methods and systems for genetic analysis |
| WO2018003220A1 (ja) * | 2016-06-29 | 2018-01-04 | トヨタ自動車株式会社 | Ｄｎａライブラリーの作製方法及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法 |
| CA3030890A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Genetic copy number alteration classifications |
| CA3037366A1 (en) | 2016-09-29 | 2018-04-05 | Myriad Women's Health, Inc. | Noninvasive prenatal screening using dynamic iterative depth optimization |
| US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| CA3041647A1 (en) | 2016-10-24 | 2018-05-03 | The Chinese University Of Hong Kong | Methods and systems for tumor detection |
| GB201618485D0 (en) | 2016-11-02 | 2016-12-14 | Ucl Business Plc | Method of detecting tumour recurrence |
| TWI675918B (zh) * | 2016-11-18 | 2019-11-01 | 香港中文大學 | 基於單倍型之通用非侵入性單基因疾病產前檢測 |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| JP7237003B2 (ja) | 2017-01-24 | 2023-03-10 | セクエノム， インコーポレイテッド | 遺伝子片の評価のための方法およびプロセス |
| US10633713B2 (en) | 2017-01-25 | 2020-04-28 | The Chinese University Of Hong Kong | Diagnostic applications using nucleic acid fragments |
| AU2018225348A1 (en) | 2017-02-21 | 2019-07-18 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| IL269202B2 (en) | 2017-03-17 | 2025-08-01 | Sequenom Inc | Methods and processes for assessment of genetic mosaicism |
| US11232850B2 (en) | 2017-03-24 | 2022-01-25 | Myriad Genetics, Inc. | Copy number variant caller |
| WO2018209222A1 (en) * | 2017-05-12 | 2018-11-15 | Massachusetts Institute Of Technology | Systems and methods for crowdsourcing, analyzing, and/or matching personal data |
| JP7056012B2 (ja) | 2017-05-19 | 2022-04-19 | トヨタ自動車株式会社 | ランダムプライマーセット、及びこれを用いたｄｎａライブラリーの作製方法 |
| KR102145417B1 (ko) * | 2017-05-24 | 2020-08-19 | 지니너스 주식회사 | 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법 |
| US11655498B2 (en) * | 2017-07-07 | 2023-05-23 | Massachusetts Institute Of Technology | Systems and methods for genetic identification and analysis |
| CN118782138A (zh) * | 2017-07-12 | 2024-10-15 | 安德股份有限公司 | 模式识别系统 |
| CN109280697B (zh) * | 2017-07-20 | 2022-04-26 | 天昊生物医药科技（苏州）有限公司 | 利用孕妇血浆游离dna进行胎儿基因型鉴定的方法 |
| DK3658684T3 (da) | 2017-07-26 | 2023-10-09 | Univ Hong Kong Chinese | Forbedring af cancerscreening ved hjælp af cellefrie, virale nukleinsyrer |
| US11519024B2 (en) | 2017-08-04 | 2022-12-06 | Billiontoone, Inc. | Homologous genomic regions for characterization associated with biological targets |
| US11646100B2 (en) | 2017-08-04 | 2023-05-09 | Billiontoone, Inc. | Target-associated molecules for characterization associated with biological targets |
| KR102372572B1 (ko) | 2017-08-04 | 2022-03-08 | 빌리언투원, 인크. | 생물학적 표적과 연관된 정량화에서 표적 연관 분자를 이용한 서열분석 출력값 측정 및 분석 |
| CN107545153B (zh) * | 2017-10-25 | 2021-06-11 | 桂林电子科技大学 | 一种基于卷积神经网络的核小体分类预测方法 |
| CA3085933A1 (en) | 2017-12-14 | 2019-06-20 | Tai Diagnostics, Inc. | Assessing graft suitability for transplantation |
| JP7047373B2 (ja) | 2017-12-25 | 2022-04-05 | トヨタ自動車株式会社 | 次世代シーケンサー用プライマー並びにその製造方法、次世代シーケンサー用プライマーを用いたｄｎａライブラリー並びにその製造方法、及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法 |
| WO2019135790A1 (en) | 2018-01-05 | 2019-07-11 | Billiontoone, Inc. | Quality control templates for ensuring validity of sequencing-based assays |
| US12398389B2 (en) | 2018-02-15 | 2025-08-26 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| AU2019251504B2 (en) | 2018-04-14 | 2025-09-25 | Natera, Inc. | Methods for cancer detection and monitoring by means of personalized detection of circulating tumor DNA |
| EP3788172B1 (en) | 2018-05-03 | 2025-04-02 | The Chinese University Of Hong Kong | Size-tagged preferred ends and orientation-aware analysis for measuring properties of cell-free mixtures |
| US10801064B2 (en) * | 2018-05-31 | 2020-10-13 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US11814750B2 (en) | 2018-05-31 | 2023-11-14 | Personalis, Inc. | Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| CA3108755C (en) | 2018-08-06 | 2021-09-14 | Billiontoone, Inc. | Dilution tagging for quantification of biological targets |
| WO2020049558A1 (en) * | 2018-09-03 | 2020-03-12 | Ramot At Tel-Aviv University Ltd. | Method and system for identifying gene disorder in maternal blood |
| CN112955960B (zh) * | 2018-09-07 | 2024-08-16 | Illumina公司 | 确定从怀孕母体分离的循环胎儿细胞来自当前妊娠或过往妊娠的方法 |
| DK3899030T3 (en) | 2018-12-17 | 2025-08-18 | Natera Inc | Methods for analysis of circulating cells |
| CN109887548B (zh) * | 2019-01-18 | 2022-11-08 | 臻悦生物科技江苏有限公司 | 基于捕获测序的ctDNA占比的检测方法及检测装置 |
| CN111560424A (zh) * | 2019-02-13 | 2020-08-21 | 广州医科大学附属第一医院 | 可检测的目标核酸、探针、确定胎儿f8基因单体型的方法及应用 |
| US12098429B2 (en) | 2019-03-25 | 2024-09-24 | The Chinese University Of Hong Kong | Determining linear and circular forms of circulating nucleic acids |
| JP7722929B2 (ja) * | 2019-04-22 | 2025-08-13 | パーソナル ゲノム ダイアグノスティクス インコーポレイテッド | 遺伝子解析の方法およびシステム |
| EP3980559A1 (en) | 2019-06-06 | 2022-04-13 | Natera, Inc. | Methods for detecting immune cell dna and monitoring immune system |
| CA3147888A1 (en) | 2019-07-19 | 2021-01-28 | 23Andme, Inc. | Phase-aware determination of identity-by-descent dna segments |
| EP3916105B1 (en) * | 2019-08-14 | 2023-01-25 | BGI Genomics Co., Limited | Method and device for determining fetal nucleic acid concentration in blood of pregnant woman |
| IL294153B2 (en) | 2019-08-16 | 2023-09-01 | Univ Hong Kong Chinese | Determination of base modifications of nucleic acids |
| CN112466397A (zh) * | 2019-09-09 | 2021-03-09 | 深圳乐土生物科技有限公司 | 一种用于亲缘关系检测的方法和装置 |
| EP4055610A4 (en) | 2019-11-05 | 2023-11-29 | Personalis, Inc. | ESTIMATION OF TUMOR PURITY FROM SINGLE SAMPLES |
| JP2023501006A (ja) * | 2019-11-18 | 2023-01-17 | エンバーク ヴェテリナリー，インコーポレーテッド | 祖先血縁を決定するための方法およびシステム |
| TWI784407B (zh) * | 2020-02-05 | 2022-11-21 | 香港中文大學 | 使用獲自懷孕女性之長游離片段進行之分子分析 |
| CN111312332B (zh) * | 2020-02-13 | 2020-10-30 | 国家卫生健康委科学技术研究所 | 基于hla基因的生物信息处理方法、装置及终端 |
| US11817176B2 (en) | 2020-08-13 | 2023-11-14 | 23Andme, Inc. | Ancestry composition determination |
| US12322509B2 (en) * | 2020-11-08 | 2025-06-03 | The Johns Hopkins University | Methods and related aspects for analyzing chromosome number status |
| CN112575077A (zh) * | 2020-12-23 | 2021-03-30 | 东莞市妇幼保健院 | 一种胎儿显性遗传病新发突变的无创基因检测方法及应用 |
| CA3226132A1 (en) | 2021-04-22 | 2022-10-27 | Natera, Inc. | Methods for determining velocity of tumor growth |
| CA3225014A1 (en) | 2021-08-02 | 2023-02-09 | Georgina GOLDRING | Methods for detecting neoplasm in pregnant women |
| US12297508B2 (en) | 2021-10-05 | 2025-05-13 | Personalis, Inc. | Customized assays for personalized cancer monitoring |
| JP2025502843A (ja) | 2022-01-04 | 2025-01-28 | ナテラ， インコーポレイテッド | がん検出及びモニタリングのための方法 |
| WO2023183812A2 (en) | 2022-03-21 | 2023-09-28 | Billion Toone, Inc. | Molecule counting of methylated cell-free dna for treatment monitoring |
| WO2025208288A1 (zh) * | 2024-04-01 | 2025-10-09 | 深圳华大生命科学研究院 | 基因预测方法、装置、计算机设备及计算机可读存储介质 |
| CN119007813B (zh) * | 2024-09-29 | 2025-11-07 | 漳州片仔癀药业股份有限公司 | 一种基于mtDNA的高海拔饲养林麝的种源鉴定及遴选方法 |
| CN120412715B (zh) * | 2025-03-17 | 2025-11-28 | 上海蓝沙生物科技有限公司 | 一种通过多态性位点连锁区域块评估孕期母本游离血液中胎儿DNA浓度（cffDNA）的方法 |
Family Cites Families (28)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US6664056B2 (en) * | 2000-10-17 | 2003-12-16 | The Chinese University Of Hong Kong | Non-invasive prenatal monitoring |
| US6927028B2 (en) * | 2001-08-31 | 2005-08-09 | Chinese University Of Hong Kong | Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA |
| US6977162B2 (en) * | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| CA2477611A1 (en) | 2002-03-01 | 2003-09-12 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| RU2200761C1 (ru) | 2002-04-01 | 2003-03-20 | Московский НИИ педиатрии и детской хирургии | Набор рекомбинантных плазмидных днк рyai 11-19, рyai 2-45, рys 37 и рyai 7-29 для определения происхождения добавочных или маркерных (мини-) хромосом человека |
| US7727720B2 (en) * | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| US20070178478A1 (en) * | 2002-05-08 | 2007-08-02 | Dhallan Ravinder S | Methods for detection of genetic disorders |
| SG173221A1 (en) | 2003-02-28 | 2011-08-29 | Ravgen Inc | Methods for detection of genetic disorders |
| US8394582B2 (en) * | 2003-03-05 | 2013-03-12 | Genetic Technologies, Inc | Identification of fetal DNA and fetal cell markers in maternal plasma or serum |
| ATE435301T1 (de) | 2003-10-16 | 2009-07-15 | Sequenom Inc | Nicht invasiver nachweis fötaler genetischer merkmale |
| US7645576B2 (en) | 2005-03-18 | 2010-01-12 | The Chinese University Of Hong Kong | Method for the detection of chromosomal aneuploidies |
| US20070122823A1 (en) | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
| GB0523276D0 (en) * | 2005-11-15 | 2005-12-21 | London Bridge Fertility | Chromosomal analysis by molecular karyotyping |
| EP2385143B1 (en) * | 2006-02-02 | 2016-07-13 | The Board of Trustees of the Leland Stanford Junior University | Non-invasive fetal genetic screening by digital analysis |
| DK2351858T3 (da) * | 2006-02-28 | 2015-04-07 | Univ Louisville Res Found | Påvisning af føtale kromosomabnormiteter ved anvendelse af tandem-enkeltnukleotid-polymorfismer |
| US20080070792A1 (en) | 2006-06-14 | 2008-03-20 | Roland Stoughton | Use of highly parallel snp genotyping for fetal diagnosis |
| US12180549B2 (en) * | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| KR102561664B1 (ko) | 2007-07-23 | 2023-07-28 | 더 차이니즈 유니버시티 오브 홍콩 | 대규모 병렬 게놈 서열분석을 이용한 태아 염색체 이수성의 진단 방법 |
| AU2009279734A1 (en) * | 2008-08-04 | 2010-02-11 | Natera, Inc. | Methods for allele calling and ploidy calling |
| CN104531837A (zh) | 2008-12-22 | 2015-04-22 | 赛卢拉有限公司 | 检测等位基因、基因组和转录物组的方法和基因型分析谱 |
| LT3783110T (lt) | 2009-11-05 | 2023-01-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| US8620593B2 (en) * | 2009-11-06 | 2013-12-31 | The Chinese University Of Hong Kong | Size-based genomic analysis |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US8825412B2 (en) | 2010-05-18 | 2014-09-02 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| WO2012103031A2 (en) | 2011-01-25 | 2012-08-02 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| US10900080B2 (en) | 2011-02-24 | 2021-01-26 | The Chinese University Of Hong Kong | Molecular testing of multiple pregnancies |
| CA2901773A1 (en) | 2013-03-15 | 2014-09-18 | The Chinese University Of Hong Kong | Determining fetal genomes for multiple fetus pregnancies |
-
2010
- 2010-11-05 LT LTEP20200970.0T patent/LT3783110T/lt unknown
- 2010-11-05 PT PT202009700T patent/PT3783110T/pt unknown
- 2010-11-05 SM SM20190229T patent/SMT201900229T1/it unknown
- 2010-11-05 EP EP10782468.2A patent/EP2496717B1/en active Active
- 2010-11-05 ES ES20200970T patent/ES2934941T3/es active Active
- 2010-11-05 EP EP20200970.0A patent/EP3783110B1/en active Active
- 2010-11-05 SI SI201031876T patent/SI3241914T1/sl unknown
- 2010-11-05 JP JP2012538035A patent/JP5540105B2/ja active Active
- 2010-11-05 DK DK17168527.4T patent/DK3241914T3/en active
- 2010-11-05 SM SM20230034T patent/SMT202300034T1/it unknown
- 2010-11-05 AU AU2010315037A patent/AU2010315037B9/en active Active
- 2010-11-05 EP EP19153788.5A patent/EP3498863B1/en active Active
- 2010-11-05 RS RS20230090A patent/RS63944B1/sr unknown
- 2010-11-05 HU HUE10782468A patent/HUE034854T2/en unknown
- 2010-11-05 BR BR112012010694A patent/BR112012010694B8/pt active IP Right Grant
- 2010-11-05 CA CA2779695A patent/CA2779695C/en active Active
- 2010-11-05 ES ES10782468.2T patent/ES2628874T3/es active Active
- 2010-11-05 MX MX2013011466A patent/MX355132B/es unknown
- 2010-11-05 ES ES17168527T patent/ES2720282T3/es active Active
- 2010-11-05 US US12/940,993 patent/US8467976B2/en active Active
- 2010-11-05 HU HUE17168527A patent/HUE043574T2/hu unknown
- 2010-11-05 FI FIEP20200970.0T patent/FI3783110T3/fi active
- 2010-11-05 EP EP22198296.0A patent/EP4170043A1/en active Pending
- 2010-11-05 PL PL17168527T patent/PL3241914T3/pl unknown
- 2010-11-05 CN CN201610127207.4A patent/CN105779280B/zh active Active
- 2010-11-05 SI SI201032126T patent/SI3783110T1/sl unknown
- 2010-11-05 DK DK20200970.0T patent/DK3783110T3/da active
- 2010-11-05 DK DK10782468.2T patent/DK2496717T3/en active
- 2010-11-05 TW TW099138291A patent/TWI458976B/zh active
- 2010-11-05 MX MX2012005214A patent/MX2012005214A/es active IP Right Grant
- 2010-11-05 RS RS20190421A patent/RS58879B1/sr unknown
- 2010-11-05 PT PT17168527T patent/PT3241914T/pt unknown
- 2010-11-05 PT PT107824682T patent/PT2496717T/pt unknown
- 2010-11-05 PL PL20200970.0T patent/PL3783110T3/pl unknown
- 2010-11-05 HR HRP20230134TT patent/HRP20230134T1/hr unknown
- 2010-11-05 EA EA201200690A patent/EA033752B1/ru unknown
- 2010-11-05 EP EP17168527.4A patent/EP3241914B1/en active Active
- 2010-11-05 WO PCT/US2010/055655 patent/WO2011057094A1/en not_active Ceased
- 2010-11-05 HU HUE20200970A patent/HUE061110T2/hu unknown
- 2010-11-05 CN CN201080059486.6A patent/CN102770558B/zh active Active
- 2010-11-05 LT LTEP17168527.4T patent/LT3241914T/lt unknown
- 2010-11-05 PL PL10782468T patent/PL2496717T3/pl unknown
-
2012
- 2012-05-01 IL IL219521A patent/IL219521A/en active IP Right Grant
- 2012-05-03 MX MX2022004800A patent/MX2022004800A/es unknown
-
2013
- 2013-05-15 US US13/895,308 patent/US9512480B2/en active Active
- 2013-05-15 US US13/895,304 patent/US10093976B2/en active Active
-
2014
- 2014-05-01 JP JP2014094667A patent/JP6023117B2/ja active Active
-
2015
- 2015-02-10 IL IL237175A patent/IL237175A/en active IP Right Grant
- 2015-02-11 IL IL237179A patent/IL237179A/en active IP Right Grant
-
2016
- 2016-06-13 JP JP2016117179A patent/JP6386494B2/ja active Active
-
2018
- 2018-06-07 US US16/002,468 patent/US11401551B2/en active Active
-
2019
- 2019-03-28 HR HRP20190601TT patent/HRP20190601T1/hr unknown
- 2019-06-05 CY CY20191100593T patent/CY1122003T1/el unknown
-
2022
- 2022-06-14 US US17/840,409 patent/US20220325344A1/en active Pending
Also Published As
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| ES2934941T3 (es) | Análisis genómico fetal a partir de una muestra biológica materna | |
| HK40092153A (en) | Fetal genomic analysis from a maternal biological sample | |
| AU2013203446B2 (en) | Identifying a de novo fetal mutation from a maternal biological sample | |
| HK40047861A (en) | Fetal genomic analysis from a maternal biological sample | |
| HK40047861B (en) | Fetal genomic analysis from a maternal biological sample | |
| HK40007427A (en) | Fetal genomic analysis from a maternal biological sample | |
| HK40007427B (en) | Fetal genomic analysis from a maternal biological sample | |
| BR122020014914B1 (pt) | Métodos para identificar uma mutação de novo no genoma de um feto não nascido de uma fêmea grávida, para determinar uma concentração fracionária de dna fetal em uma amostra biológica tirada de uma fêmea grávida e para determinar uma proporção de um genoma fetal que foi sequenciado a partir de uma amostra biológica tirada de uma fêmea grávida, e, meio legível por computador não transitório | |
| EA050163B1 (ru) | Анализ генома плода из материнского биологического образца | |
| HK1222413B (zh) | 由母本生物样品进行胎儿基因组的分析 | |
| HK1175504A (en) | Fetal genomic analysis from a maternal biological sample | |
| HK1175504B (en) | Fetal genomic analysis from a maternal biological sample | |
| HK1239754B (en) | Fetal genomic analysis from a maternal biological sample | |
| HK1239754A1 (en) | Fetal genomic analysis from a maternal biological sample |