ES2761624T3 - Análisis de ADN basado en el tamaño para la clasificación del cáncer - Google Patents
Análisis de ADN basado en el tamaño para la clasificación del cáncer Download PDFInfo
- Publication number
- ES2761624T3 ES2761624T3 ES17209781T ES17209781T ES2761624T3 ES 2761624 T3 ES2761624 T3 ES 2761624T3 ES 17209781 T ES17209781 T ES 17209781T ES 17209781 T ES17209781 T ES 17209781T ES 2761624 T3 ES2761624 T3 ES 2761624T3
- Authority
- ES
- Spain
- Prior art keywords
- dna
- size
- value
- samples
- fetal
- 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
- 206010028980 Neoplasm Diseases 0.000 title claims abstract description 145
- 201000011510 cancer Diseases 0.000 title claims abstract description 54
- 238000004458 analytical method Methods 0.000 title description 22
- 239000012634 fragment Substances 0.000 claims abstract description 175
- 238000000034 method Methods 0.000 claims abstract description 62
- 238000012163 sequencing technique Methods 0.000 claims abstract description 49
- 239000012472 biological sample Substances 0.000 claims abstract description 48
- 239000002773 nucleotide Substances 0.000 claims abstract description 16
- 125000003729 nucleotide group Chemical group 0.000 claims abstract description 16
- 210000002381 plasma Anatomy 0.000 claims description 102
- 239000000523 sample Substances 0.000 claims description 69
- 210000002966 serum Anatomy 0.000 claims description 3
- 210000004369 blood Anatomy 0.000 claims description 2
- 239000008280 blood Substances 0.000 claims description 2
- 210000003296 saliva Anatomy 0.000 claims description 2
- 210000002700 urine Anatomy 0.000 claims description 2
- 108020004414 DNA Proteins 0.000 description 435
- 230000001605 fetal effect Effects 0.000 description 143
- 230000008774 maternal effect Effects 0.000 description 66
- 238000002271 resection Methods 0.000 description 36
- 238000009826 distribution Methods 0.000 description 35
- 238000001962 electrophoresis Methods 0.000 description 29
- 210000003754 fetus Anatomy 0.000 description 26
- 230000006870 function Effects 0.000 description 26
- 206010073071 hepatocellular carcinoma Diseases 0.000 description 26
- 231100000844 hepatocellular carcinoma Toxicity 0.000 description 26
- 238000005259 measurement Methods 0.000 description 16
- 108700028369 Alleles Proteins 0.000 description 13
- 230000000875 corresponding effect Effects 0.000 description 13
- 230000002759 chromosomal effect Effects 0.000 description 12
- 210000000349 chromosome Anatomy 0.000 description 11
- 208000036878 aneuploidy Diseases 0.000 description 10
- 210000002593 Y chromosome Anatomy 0.000 description 9
- 210000004027 cell Anatomy 0.000 description 9
- 230000003394 haemopoietic effect Effects 0.000 description 9
- 239000013615 primer Substances 0.000 description 9
- 201000010374 Down Syndrome Diseases 0.000 description 8
- 238000011088 calibration curve Methods 0.000 description 7
- 238000001514 detection method Methods 0.000 description 7
- 230000035935 pregnancy Effects 0.000 description 7
- 230000009467 reduction Effects 0.000 description 7
- 201000006360 Edwards syndrome Diseases 0.000 description 6
- 208000007159 Trisomy 18 Syndrome Diseases 0.000 description 6
- 206010044688 Trisomy 21 Diseases 0.000 description 6
- 230000003321 amplification Effects 0.000 description 6
- 231100001075 aneuploidy Toxicity 0.000 description 6
- 238000003199 nucleic acid amplification method Methods 0.000 description 6
- 238000012549 training Methods 0.000 description 6
- 206010053884 trisomy 18 Diseases 0.000 description 6
- 238000010200 validation analysis Methods 0.000 description 6
- 230000007067 DNA methylation Effects 0.000 description 5
- 201000009928 Patau syndrome Diseases 0.000 description 5
- 206010044686 Trisomy 13 Diseases 0.000 description 5
- 208000006284 Trisomy 13 Syndrome Diseases 0.000 description 5
- 102000053602 DNA Human genes 0.000 description 4
- 238000001712 DNA sequencing Methods 0.000 description 4
- 230000003322 aneuploid effect Effects 0.000 description 4
- 230000002596 correlated effect Effects 0.000 description 4
- 238000012886 linear function Methods 0.000 description 4
- 238000004949 mass spectrometry Methods 0.000 description 4
- 108020004707 nucleic acids Proteins 0.000 description 4
- 102000039446 nucleic acids Human genes 0.000 description 4
- 150000007523 nucleic acids Chemical class 0.000 description 4
- 108091023043 Alu Element Proteins 0.000 description 3
- 108091034117 Oligonucleotide Proteins 0.000 description 3
- 230000008901 benefit Effects 0.000 description 3
- 230000005540 biological transmission Effects 0.000 description 3
- 230000001186 cumulative effect Effects 0.000 description 3
- 238000012217 deletion Methods 0.000 description 3
- 230000037430 deletion Effects 0.000 description 3
- 238000010586 diagram Methods 0.000 description 3
- 230000002068 genetic effect Effects 0.000 description 3
- 238000012417 linear regression Methods 0.000 description 3
- 230000008775 paternal effect Effects 0.000 description 3
- 238000003793 prenatal diagnosis Methods 0.000 description 3
- 238000003753 real-time PCR Methods 0.000 description 3
- 239000000344 soap Substances 0.000 description 3
- 238000012360 testing method Methods 0.000 description 3
- 210000001519 tissue Anatomy 0.000 description 3
- 208000031404 Chromosome Aberrations Diseases 0.000 description 2
- 206010009944 Colon cancer Diseases 0.000 description 2
- 208000001333 Colorectal Neoplasms Diseases 0.000 description 2
- 108091028043 Nucleic acid sequence Proteins 0.000 description 2
- 208000006994 Precancerous Conditions Diseases 0.000 description 2
- 208000037280 Trisomy Diseases 0.000 description 2
- 238000004364 calculation method Methods 0.000 description 2
- 231100000005 chromosome aberration Toxicity 0.000 description 2
- 238000004590 computer program Methods 0.000 description 2
- 238000010276 construction Methods 0.000 description 2
- 238000013461 design Methods 0.000 description 2
- 238000002405 diagnostic procedure Methods 0.000 description 2
- 239000010432 diamond Substances 0.000 description 2
- 230000001973 epigenetic effect Effects 0.000 description 2
- 238000002474 experimental method Methods 0.000 description 2
- 238000013467 fragmentation Methods 0.000 description 2
- 238000006062 fragmentation reaction Methods 0.000 description 2
- 210000004185 liver Anatomy 0.000 description 2
- 230000004048 modification Effects 0.000 description 2
- 238000012986 modification Methods 0.000 description 2
- 238000007857 nested PCR Methods 0.000 description 2
- 238000010606 normalization Methods 0.000 description 2
- 230000003287 optical effect Effects 0.000 description 2
- 210000000056 organ Anatomy 0.000 description 2
- 210000002826 placenta Anatomy 0.000 description 2
- 238000002360 preparation method Methods 0.000 description 2
- 238000003908 quality control method Methods 0.000 description 2
- 238000000926 separation method Methods 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 238000003860 storage Methods 0.000 description 2
- 206010003445 Ascites Diseases 0.000 description 1
- LSNNMFCWUKXFEE-UHFFFAOYSA-M Bisulfite Chemical compound OS([O-])=O LSNNMFCWUKXFEE-UHFFFAOYSA-M 0.000 description 1
- 108020001019 DNA Primers Proteins 0.000 description 1
- 239000003155 DNA primer Substances 0.000 description 1
- 108700024394 Exon Proteins 0.000 description 1
- 208000031220 Hemophilia Diseases 0.000 description 1
- 208000009292 Hemophilia A Diseases 0.000 description 1
- 208000024556 Mendelian disease Diseases 0.000 description 1
- 241001465754 Metazoa Species 0.000 description 1
- 238000012408 PCR amplification Methods 0.000 description 1
- 208000037273 Pathologic Processes Diseases 0.000 description 1
- 238000001190 Q-PCR Methods 0.000 description 1
- 108091081062 Repeated sequence (DNA) Proteins 0.000 description 1
- 101150108975 Rhd gene Proteins 0.000 description 1
- 101710179516 Run domain Beclin-1-interacting and cysteine-rich domain-containing protein Proteins 0.000 description 1
- 102100030852 Run domain Beclin-1-interacting and cysteine-rich domain-containing protein Human genes 0.000 description 1
- 230000004075 alteration Effects 0.000 description 1
- 210000000941 bile Anatomy 0.000 description 1
- 239000013060 biological fluid Substances 0.000 description 1
- 210000000601 blood cell Anatomy 0.000 description 1
- 210000004556 brain Anatomy 0.000 description 1
- 230000008859 change Effects 0.000 description 1
- 238000006243 chemical reaction Methods 0.000 description 1
- 238000007796 conventional method Methods 0.000 description 1
- 230000003247 decreasing effect Effects 0.000 description 1
- 238000012774 diagnostic algorithm Methods 0.000 description 1
- 230000029087 digestion Effects 0.000 description 1
- 238000005516 engineering process Methods 0.000 description 1
- ZMMJGEGLRURXTF-UHFFFAOYSA-N ethidium bromide Chemical compound [Br-].C12=CC(N)=CC=C2C2=CC=C(N)C=C2[N+](CC)=C1C1=CC=CC=C1 ZMMJGEGLRURXTF-UHFFFAOYSA-N 0.000 description 1
- 229960005542 ethidium bromide Drugs 0.000 description 1
- 230000001747 exhibiting effect Effects 0.000 description 1
- 239000012530 fluid Substances 0.000 description 1
- 238000013412 genome amplification Methods 0.000 description 1
- 238000003205 genotyping method Methods 0.000 description 1
- 208000034737 hemoglobinopathy Diseases 0.000 description 1
- 238000009396 hybridization Methods 0.000 description 1
- 238000001114 immunoprecipitation Methods 0.000 description 1
- 208000018337 inherited hemoglobinopathy Diseases 0.000 description 1
- 238000009830 intercalation Methods 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 239000003550 marker Substances 0.000 description 1
- 230000011987 methylation Effects 0.000 description 1
- 238000007069 methylation reaction Methods 0.000 description 1
- 238000002493 microarray Methods 0.000 description 1
- 239000000203 mixture Substances 0.000 description 1
- 238000012544 monitoring process Methods 0.000 description 1
- 230000035772 mutation Effects 0.000 description 1
- 230000000869 mutational effect Effects 0.000 description 1
- 208000010125 myocardial infarction Diseases 0.000 description 1
- 210000001819 pancreatic juice Anatomy 0.000 description 1
- 238000009595 pap smear Methods 0.000 description 1
- 239000002245 particle Substances 0.000 description 1
- 230000008807 pathological lesion Effects 0.000 description 1
- 230000009054 pathological process Effects 0.000 description 1
- 230000002093 peripheral effect Effects 0.000 description 1
- 238000000053 physical method Methods 0.000 description 1
- 210000004910 pleural fluid Anatomy 0.000 description 1
- 102000054765 polymorphisms of proteins Human genes 0.000 description 1
- 230000008569 process Effects 0.000 description 1
- 108091008146 restriction endonucleases Proteins 0.000 description 1
- 230000035945 sensitivity Effects 0.000 description 1
- 238000004904 shortening Methods 0.000 description 1
- 238000001228 spectrum Methods 0.000 description 1
- 210000004243 sweat Anatomy 0.000 description 1
- 238000002054 transplantation 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
- C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
-
- 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
-
- 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
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
- C12Q1/6816—Hybridisation assays characterised by the detection means
-
- 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
- C12Q1/6869—Methods for sequencing
-
- 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
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
- G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
- G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
- G16H50/30—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for calculating health indices; for individual health risk assessment
-
- 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
- C12Q2600/112—Disease subtyping, staging or classification
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Organic Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Analytical Chemistry (AREA)
- Biotechnology (AREA)
- Biophysics (AREA)
- Medical Informatics (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Molecular Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Public Health (AREA)
- Biomedical Technology (AREA)
- Pathology (AREA)
- Epidemiology (AREA)
- Primary Health Care (AREA)
- Databases & Information Systems (AREA)
- Data Mining & Analysis (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Hospice & Palliative Care (AREA)
- Oncology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Mathematical Analysis (AREA)
- General Physics & Mathematics (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201261608623P | 2012-03-08 | 2012-03-08 | |
| US201261621451P | 2012-04-06 | 2012-04-06 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2761624T3 true ES2761624T3 (es) | 2020-05-20 |
Family
ID=49114635
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES17209781T Active ES2761624T3 (es) | 2012-03-08 | 2013-03-08 | Análisis de ADN basado en el tamaño para la clasificación del cáncer |
| ES17202838T Active ES2729504T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
| ES13757943.9T Active ES2659487T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES17202838T Active ES2729504T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
| ES13757943.9T Active ES2659487T3 (es) | 2012-03-08 | 2013-03-08 | Análisis basado en el tamaño de la fracción de ADN fetal en el plasma materno |
Country Status (18)
| Country | Link |
|---|---|
| US (7) | US9892230B2 (cg-RX-API-DMAC7.html) |
| EP (10) | EP4382613A3 (cg-RX-API-DMAC7.html) |
| JP (7) | JP6073382B2 (cg-RX-API-DMAC7.html) |
| CN (3) | CN104254618B (cg-RX-API-DMAC7.html) |
| AU (4) | AU2013229186B2 (cg-RX-API-DMAC7.html) |
| CA (2) | CA2865523C (cg-RX-API-DMAC7.html) |
| CY (1) | CY1121828T1 (cg-RX-API-DMAC7.html) |
| DK (5) | DK2823062T5 (cg-RX-API-DMAC7.html) |
| ES (3) | ES2761624T3 (cg-RX-API-DMAC7.html) |
| HR (1) | HRP20191300T1 (cg-RX-API-DMAC7.html) |
| HU (1) | HUE044746T2 (cg-RX-API-DMAC7.html) |
| LT (1) | LT3301193T (cg-RX-API-DMAC7.html) |
| PL (1) | PL3301193T3 (cg-RX-API-DMAC7.html) |
| PT (1) | PT3301193T (cg-RX-API-DMAC7.html) |
| RS (1) | RS59073B1 (cg-RX-API-DMAC7.html) |
| SI (1) | SI3301193T1 (cg-RX-API-DMAC7.html) |
| SM (1) | SMT201900409T1 (cg-RX-API-DMAC7.html) |
| WO (1) | WO2013132305A1 (cg-RX-API-DMAC7.html) |
Families Citing this family (125)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN101153336B (zh) | 2006-09-27 | 2011-09-07 | 香港中文大学 | 检测dna甲基化程度的方法和试剂盒 |
| US8620593B2 (en) | 2009-11-06 | 2013-12-31 | The Chinese University Of Hong Kong | Size-based genomic analysis |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | 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 |
| 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 |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| RU2671980C2 (ru) | 2011-02-09 | 2018-11-08 | Натера, Инк. | Способы неинвазивного пренатального установления плоидности |
| WO2012177792A2 (en) | 2011-06-24 | 2012-12-27 | Sequenom, Inc. | Methods and processes for non-invasive assessment of a genetic variation |
| 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 |
| 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 |
| AU2013209499B2 (en) | 2012-01-20 | 2018-05-10 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| 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 |
| 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 |
| ES2772029T3 (es) * | 2012-05-21 | 2020-07-07 | Sequenom Inc | Métodos y procesos para la evaluación no invasiva de variaciones genéticas |
| 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 |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| US20160040229A1 (en) | 2013-08-16 | 2016-02-11 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| US11913065B2 (en) | 2012-09-04 | 2024-02-27 | Guardent Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| SG10202000486VA (en) | 2012-09-04 | 2020-03-30 | Guardant Health Inc | Systems and methods to detect rare mutations and copy number variation |
| US10876152B2 (en) | 2012-09-04 | 2020-12-29 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP3561072A1 (en) | 2012-12-10 | 2019-10-30 | Resolution Bioscience, Inc. | Methods for targeted genomic analysis |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| EP3597774A1 (en) | 2013-03-13 | 2020-01-22 | Sequenom, Inc. | Primers for dna methylation analysis |
| EP2981921B1 (en) | 2013-04-03 | 2023-01-18 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| 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 |
| US10174375B2 (en) * | 2013-09-20 | 2019-01-08 | The Chinese University Of Hong Kong | Sequencing analysis of circulating DNA to detect and monitor autoimmune diseases |
| 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 |
| WO2015061359A1 (en) | 2013-10-21 | 2015-04-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| MX383494B (es) | 2013-11-07 | 2025-03-14 | Univ Leland Stanford Junior | Ácidos nucleicos libres de células para el análisis del microbioma humano y componentes del mismo. |
| GB2520765A (en) * | 2013-12-02 | 2015-06-03 | Vanadis Diagnostics Ab | Multiplex detection of nucleic acids |
| SG10201804519RA (en) | 2013-12-28 | 2018-07-30 | Guardant Health Inc | Methods and systems for detecting genetic variants |
| GB2524948A (en) * | 2014-03-07 | 2015-10-14 | Oxford Gene Technology Operations Ltd | Detecting Increase or Decrease in the Amount of a Nucleic Acid having a Sequence of Interest |
| 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 |
| WO2015169947A1 (en) | 2014-05-09 | 2015-11-12 | Lifecodexx Ag | Detection of dna that originates from a specific cell-type and related methods |
| EP2942400A1 (en) | 2014-05-09 | 2015-11-11 | Lifecodexx AG | Multiplex detection of DNA that originates from a specific cell-type |
| AU2015266665C1 (en) | 2014-05-30 | 2021-12-23 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| US20180173845A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of 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 |
| EP3178941B1 (en) * | 2014-07-25 | 2021-10-13 | BGI Genomics Co., Limited | Method for determining the fraction of cell-free fetal nucleic acids in a peripheral blood sample from a pregnant woman and use thereof |
| EP3760739B1 (en) * | 2014-07-30 | 2025-09-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US20160053301A1 (en) | 2014-08-22 | 2016-02-25 | Clearfork Bioscience, Inc. | Methods for quantitative genetic analysis of cell free dna |
| EP3230469B1 (en) | 2014-12-12 | 2019-04-03 | Verinata Health, Inc. | Using cell-free dna fragment size to determine copy number variations |
| 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 |
| US11242559B2 (en) | 2015-01-13 | 2022-02-08 | The Chinese University Of Hong Kong | Method of nuclear DNA and mitochondrial DNA analysis |
| US10319463B2 (en) * | 2015-01-23 | 2019-06-11 | The Chinese University Of Hong Kong | Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations |
| DK3256605T3 (da) | 2015-02-10 | 2022-03-14 | Univ Hong Kong Chinese | Påvisning af mutationer til cancerscreening og føtal analyse |
| CN104789686B (zh) * | 2015-05-06 | 2018-09-07 | 浙江安诺优达生物科技有限公司 | 检测染色体非整倍性的试剂盒和装置 |
| 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 |
| EP3298166B1 (en) | 2015-05-22 | 2020-02-12 | Nipd Genetics Public Company Limited | Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing |
| ES2960201T3 (es) * | 2015-07-23 | 2024-03-01 | Univ Hong Kong Chinese | Análisis de los patrones de fragmentación del ADN acelular |
| EP3347487B1 (en) * | 2015-09-11 | 2021-07-14 | INSERM (Institut National de la Santé et de la Recherche Médicale) | Non-invasive methods for assessing genetic integrity of pluripotent stem cells |
| 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 |
| KR101848438B1 (ko) * | 2015-10-29 | 2018-04-13 | 바이오코아 주식회사 | 디지털 pcr을 이용한 산전진단 방법 |
| HUE050491T2 (hu) | 2015-11-10 | 2020-12-28 | Eurofins Lifecodexx Gmbh | Magzati kromoszomális aneuploidiák kimutatása olyan DNS régiókat alkalmazva, amelyek különbözõképpen vannak metilezve a magzat és a terhes nõstény között |
| CA3004435A1 (en) | 2015-11-11 | 2017-05-18 | Resolution Bioscience, Inc. | High efficiency construction of dna libraries |
| WO2017106768A1 (en) | 2015-12-17 | 2017-06-22 | Guardant Health, Inc. | Methods to determine tumor gene copy number by analysis of cell-free dna |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| AU2017237187B2 (en) | 2016-03-24 | 2022-12-08 | Xzom, Inc. | Disposable fluidic cartridge and components |
| EP3433382B1 (en) | 2016-03-25 | 2021-09-01 | Karius, Inc. | Synthetic nucleic acid spike-ins |
| WO2017181202A2 (en) | 2016-04-15 | 2017-10-19 | Natera, Inc. | Methods for lung cancer detection |
| CA3030890A1 (en) | 2016-07-27 | 2018-02-01 | Sequenom, Inc. | Genetic copy number alteration classifications |
| SG11201901371XA (en) | 2016-08-25 | 2019-03-28 | Resolution Bioscience Inc | Methods for the detection of genomic copy changes in dna samples |
| MY205940A (en) * | 2016-10-19 | 2024-11-21 | Univ Hong Kong Chinese | Gestational age assessment by methylation and size profiling of maternal plasma dna |
| 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 |
| CA3040930A1 (en) | 2016-11-07 | 2018-05-11 | Grail, Inc. | Methods of identifying somatic mutational signatures for early cancer detection |
| JP2020503003A (ja) | 2016-11-30 | 2020-01-30 | ザ チャイニーズ ユニバーシティ オブ ホンコン | 尿および他のサンプルにおける無細胞dnaの分析 |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| CN106591451B (zh) | 2016-12-14 | 2020-06-23 | 北京贝瑞和康生物技术有限公司 | 测定胎儿游离dna含量的方法及其用于实施该方法的装置 |
| 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 |
| IL269202B2 (en) | 2017-03-17 | 2025-08-01 | Sequenom Inc | Methods and processes for assessment of genetic mosaicism |
| US10697008B2 (en) | 2017-04-12 | 2020-06-30 | Karius, Inc. | Sample preparation methods, systems and compositions |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| CA3062585A1 (en) | 2017-05-08 | 2018-11-15 | Biological Dynamics, Inc. | Methods and systems for analyte information processing |
| DK3658684T3 (da) | 2017-07-26 | 2023-10-09 | Univ Hong Kong Chinese | Forbedring af cancerscreening ved hjælp af cellefrie, virale nukleinsyrer |
| JP2021500883A (ja) | 2017-10-27 | 2021-01-14 | ジュノ ダイアグノスティックス,インク. | 超微量リキッドバイオプシーのためのデバイス、システム、および方法 |
| US11168356B2 (en) * | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
| CA3085933A1 (en) | 2017-12-14 | 2019-06-20 | Tai Diagnostics, Inc. | Assessing graft suitability for transplantation |
| JP2021509266A (ja) * | 2017-12-19 | 2021-03-25 | バイオロジカル ダイナミクス,インク. | 無細胞dna断片を検出および定量化するための方法とデバイス |
| AU2018388641B2 (en) | 2017-12-19 | 2023-09-07 | Xzom, Inc. | Methods and devices for detection of multiple analytes from a biological sample |
| US12398389B2 (en) | 2018-02-15 | 2025-08-26 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| WO2019178273A1 (en) * | 2018-03-13 | 2019-09-19 | Guardant Health, Inc. | Methods for the non-invasive detection and monitoring of therapeutic nucleic acid constructs |
| WO2019178157A1 (en) | 2018-03-16 | 2019-09-19 | Karius, Inc. | Sample series to differentiate target nucleic acids from contaminant nucleic acids |
| AU2019244115A1 (en) | 2018-03-30 | 2020-11-19 | Juno Diagnostics, Inc. | Deep learning-based methods, devices, and systems for prenatal testing |
| CN117065932A (zh) | 2018-04-02 | 2023-11-17 | 生物动力学公司 | 介电材料 |
| GB2587939B (en) | 2018-04-02 | 2023-06-14 | Grail Llc | Methylation markers and targeted methylation probe panels |
| 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 |
| WO2019209884A1 (en) | 2018-04-23 | 2019-10-31 | Grail, Inc. | Methods and systems for screening for conditions |
| WO2019226822A1 (en) * | 2018-05-23 | 2019-11-28 | The Regents Of The University Of California | Methods of analyzing capped ribonucleic acids |
| US12234509B2 (en) | 2018-07-03 | 2025-02-25 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| CN113286881A (zh) | 2018-09-27 | 2021-08-20 | 格里尔公司 | 甲基化标记和标靶甲基化探针板 |
| WO2020104394A1 (en) | 2018-11-19 | 2020-05-28 | Sistemas Genómicos, S.L. | Method and computer program product for analysis of fetal dna by massive sequencing |
| EP3884065B1 (en) | 2018-11-21 | 2024-08-14 | Karius, Inc. | Direct-to-library methods, systems, and compositions |
| KR20210113237A (ko) | 2018-12-19 | 2021-09-15 | 더 차이니즈 유니버시티 오브 홍콩 | 무 세포 dna 말단 특성 |
| US11929148B2 (en) | 2019-03-13 | 2024-03-12 | Grail, Llc | Systems and methods for enriching for cancer-derived fragments using fragment size |
| US12098429B2 (en) | 2019-03-25 | 2024-09-24 | The Chinese University Of Hong Kong | Determining linear and circular forms of circulating nucleic acids |
| CN110136794A (zh) * | 2019-05-22 | 2019-08-16 | 湖北可汗广电文化有限公司 | 一种基于人工智能的母婴全生命周期健康医疗服务系统 |
| CA3147613A1 (en) * | 2019-08-19 | 2021-02-25 | Chang-Seok Ki | Method for detecting chromosomal abnormality by using information about distance between nucleic acid fragments |
| CN114585749B (zh) * | 2019-10-16 | 2024-09-03 | 斯蒂拉科技公司 | 核酸序列浓度的确定 |
| CA3158101A1 (en) | 2019-11-27 | 2021-06-03 | M. Cyrus MAHER | Systems and methods for evaluating longitudinal biological feature data |
| 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 |
| US11475981B2 (en) | 2020-02-18 | 2022-10-18 | Tempus Labs, Inc. | Methods and systems for dynamic variant thresholding in a liquid biopsy assay |
| US11211144B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Methods and systems for refining copy number variation in a liquid biopsy assay |
| US11211147B2 (en) | 2020-02-18 | 2021-12-28 | Tempus Labs, Inc. | Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing |
| EP4359562A1 (en) | 2021-06-21 | 2024-05-01 | Guardant Health, Inc. | Methods and compositions for copy-number informed tissue-of-origin analysis |
| EP4409024A1 (en) | 2021-09-30 | 2024-08-07 | Guardant Health, Inc. | Compositions and methods for synthesis and use of probes targeting nucleic acid rearrangements |
| KR20240174893A (ko) | 2023-06-08 | 2024-12-18 | 지놈케어 주식회사 | 태아 분획을 증가시키는 방법 |
| WO2025137389A2 (en) | 2023-12-22 | 2025-06-26 | Guardant Health, Inc. | Methods for targeted single-molecule genetic and epigenetic sequencing |
Family Cites Families (109)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6440706B1 (en) | 1999-08-02 | 2002-08-27 | Johns Hopkins University | Digital amplification |
| ATE444532T1 (de) | 1999-10-13 | 2009-10-15 | Sequenom Inc | Verfahren zur identifizierung von polymorphen genetischen markern |
| GB0016742D0 (en) | 2000-07-10 | 2000-08-30 | Simeg Limited | Diagnostic method |
| US6664056B2 (en) | 2000-10-17 | 2003-12-16 | The Chinese University Of Hong Kong | Non-invasive prenatal monitoring |
| US8898021B2 (en) | 2001-02-02 | 2014-11-25 | Mark W. Perlin | Method and system for DNA mixture analysis |
| JP2002272497A (ja) | 2001-03-15 | 2002-09-24 | Venture Link Co Ltd | 癌の診断方法、およびその診断用ベクター |
| EP1370692A2 (fr) | 2001-03-23 | 2003-12-17 | Gencell S.A. | Procedes de purification et de detection de sequences cibles d'adn double brin par interaction triple helice. |
| AR036741A1 (es) | 2001-10-05 | 2004-09-29 | Combinatorx Inc | Combinaciones para el tratamiento de los trastornos inmunoinflamatorios |
| US20030180765A1 (en) | 2002-02-01 | 2003-09-25 | The Johns Hopkins University | Digital amplification for detection of mismatch repair deficient tumor cells |
| CA2477611A1 (en) | 2002-03-01 | 2003-09-12 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| JP2006512924A (ja) | 2002-08-15 | 2006-04-20 | ジェンザイム・コーポレーション | 脳内皮細胞発現パターン |
| US7704687B2 (en) | 2002-11-15 | 2010-04-27 | The Johns Hopkins University | Digital karyotyping |
| 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 |
| AU2003901671A0 (en) | 2003-04-02 | 2003-05-01 | The University Of Adelaide | Comparative genomic hybridization |
| RU2249820C1 (ru) | 2003-08-18 | 2005-04-10 | Лактионов Павел Петрович | Способ ранней диагностики заболеваний, связанных с нарушением функционирования генетического аппарата клетки |
| US20050282213A1 (en) | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
| CA2541706C (en) | 2003-10-08 | 2014-02-18 | The Trustees Of Boston University | Methods for prenatal diagnosis of chromosomal abnormalities |
| ATE435301T1 (de) | 2003-10-16 | 2009-07-15 | Sequenom Inc | Nicht invasiver nachweis fötaler genetischer merkmale |
| US20050221341A1 (en) | 2003-10-22 | 2005-10-06 | Shimkets Richard A | Sequence-based karyotyping |
| CA2544178A1 (en) | 2003-10-30 | 2005-05-19 | Tufts-New England Medical Center | Prenatal diagnosis using cell-free fetal dna in amniotic fluid |
| DE102004036285A1 (de) | 2004-07-27 | 2006-02-16 | Advalytix Ag | Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe |
| CN1779688A (zh) | 2004-11-22 | 2006-05-31 | 寰硕数码股份有限公司 | 交互式医疗信息系统及方法 |
| US7645576B2 (en) | 2005-03-18 | 2010-01-12 | The Chinese University Of Hong Kong | Method for the detection of chromosomal aneuploidies |
| DE602005009324D1 (de) | 2005-04-06 | 2008-10-09 | Maurice Stroun | Methode zur Krebsdiagnose mittels Nachweis von DNA und RNA im Kreislauf |
| US20070122823A1 (en) | 2005-09-01 | 2007-05-31 | Bianchi Diana W | Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis |
| 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 |
| CN103263439B (zh) | 2007-05-24 | 2015-04-22 | 埃普塞斯有限责任两合公司 | Cd34干细胞相关方法和组合物 |
| 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 |
| US20090053719A1 (en) * | 2007-08-03 | 2009-02-26 | The Chinese University Of Hong Kong | Analysis of nucleic acids by digital pcr |
| PT2200622E (pt) | 2007-09-19 | 2012-11-06 | Pluristem Ltd | Células aderentes provenientes de tecido adiposo ou placentário e respetiva utilização terapêutica |
| WO2009051842A2 (en) | 2007-10-18 | 2009-04-23 | The Johns Hopkins University | Detection of cancer by measuring genomic copy number and strand length in cell-free dna |
| EP2952589B1 (en) | 2008-09-20 | 2018-02-14 | The Board of Trustees of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| US8835110B2 (en) † | 2008-11-04 | 2014-09-16 | The Johns Hopkins University | DNA integrity assay (DIA) for cancer diagnostics, using confocal fluorescence spectroscopy |
| WO2010112316A1 (en) | 2009-03-31 | 2010-10-07 | Oridis Biomed Forschungs- Und Entwicklungs Gmbh | Method for diagnosis of cancer and monitoring of cancer treatments |
| WO2011053790A2 (en) | 2009-10-30 | 2011-05-05 | Fluidigm Corporation | Assay of closely linked targets in fetal diagnosis and coincidence detection assay for genetic analysis |
| 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 |
| US9361426B2 (en) | 2009-11-12 | 2016-06-07 | Esoterix Genetic Laboratories, Llc | Copy number analysis of genetic locus |
| 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 |
| CA2786564A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| PL2366031T3 (pl) | 2010-01-19 | 2015-08-31 | Verinata Health Inc | Metody sekwencjonowania w diagnostyce prenatalnej |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| WO2011103236A2 (en) | 2010-02-18 | 2011-08-25 | The Johns Hopkins University | Personalized tumor biomarkers |
| US20130143214A1 (en) | 2010-06-04 | 2013-06-06 | Chronix Biomedical | Prostate cancer associated circulating nucleic acid biomarkers |
| EP2426217A1 (en) | 2010-09-03 | 2012-03-07 | Centre National de la Recherche Scientifique (CNRS) | Analytical methods for cell free nucleic acids and applications |
| EP2646579B1 (en) | 2010-11-30 | 2017-06-14 | The Chinese University Of Hong Kong | Detection of genetic or molecular aberrations associated with cancer |
| US20130059738A1 (en) | 2011-04-28 | 2013-03-07 | Life Technologies Corporation | Methods and compositions for multiplex pcr |
| US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
| CA2849771A1 (en) | 2011-09-22 | 2013-03-28 | ImmuMetrix, LLC | Compositions and methods for analyzing heterogeneous samples |
| US10196681B2 (en) | 2011-10-06 | 2019-02-05 | 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 |
| EP2771483A1 (en) | 2011-10-25 | 2014-09-03 | ONCOTYROL - Center for Personalized Cancer Medicine GmbH | Method for diagnosing a disease based on plasma-dna distribution |
| WO2013062856A1 (en) | 2011-10-27 | 2013-05-02 | Verinata Health, Inc. | Set membership testers for aligning nucleic acid samples |
| FR2981833B1 (fr) | 2011-10-28 | 2013-12-06 | Oreal | Sachet de conditionnement de produit cosmetique |
| US9757458B2 (en) | 2011-12-05 | 2017-09-12 | Immunomedics, Inc. | Crosslinking of CD22 by epratuzumab triggers BCR signaling and caspase-dependent apoptosis in hematopoietic cancer cells |
| WO2013086464A1 (en) | 2011-12-07 | 2013-06-13 | The Broad Institute, Inc. | Markers associated with chronic lymphocytic leukemia prognosis and progression |
| 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 |
| US20130261984A1 (en) | 2012-03-30 | 2013-10-03 | Illumina, Inc. | Methods and systems for determining fetal chromosomal abnormalities |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US20150197785A1 (en) | 2012-08-10 | 2015-07-16 | The Broad Institute, Inc. | Methods and apparatus for analyzing and quantifying dna alterations in cancer |
| US20160040229A1 (en) | 2013-08-16 | 2016-02-11 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| SG10202000486VA (en) | 2012-09-04 | 2020-03-30 | Guardant Health Inc | Systems and methods to detect rare mutations and copy number variation |
| US20140066317A1 (en) | 2012-09-04 | 2014-03-06 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| US9769123B2 (en) | 2012-09-06 | 2017-09-19 | Intel Corporation | Mitigating unauthorized access to data traffic |
| 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 |
| 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 |
| US20140287937A1 (en) | 2013-02-21 | 2014-09-25 | Toma Biosciences, Inc. | Methods for assessing cancer |
| EP4253558B1 (en) | 2013-03-15 | 2025-07-02 | The Board of Trustees of the Leland Stanford Junior University | Identification and use of circulating nucleic acid tumor markers |
| CA2906818C (en) | 2013-03-15 | 2022-08-16 | Verinata Health, Inc. | Generating cell-free dna libraries directly from blood |
| AU2014308980C1 (en) | 2013-08-19 | 2021-09-30 | Invitae Corporation | Assays for single molecule detection and use thereof |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| WO2015061359A1 (en) | 2013-10-21 | 2015-04-30 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| GB201319779D0 (en) | 2013-11-08 | 2013-12-25 | Cartagenia N V | Genetic analysis method |
| WO2015095225A1 (en) | 2013-12-19 | 2015-06-25 | The Board Of Trustees Of The Leland Stanford Junior University | Quantification of mutant alleles and copy number variation using digital pcr with nonspecific dna-binding dyes |
| GB2524948A (en) | 2014-03-07 | 2015-10-14 | Oxford Gene Technology Operations Ltd | Detecting Increase or Decrease in the Amount of a Nucleic Acid having a Sequence of Interest |
| 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 |
| ES2844229T3 (es) | 2014-05-13 | 2021-07-21 | Univ Texas | Mutaciones génicas y alteraciones en el número de copias de EGFR, KRAS y MET |
| AU2015266665C1 (en) | 2014-05-30 | 2021-12-23 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| KR20170026383A (ko) | 2014-06-26 | 2017-03-08 | 10엑스 제노믹스, 인크. | 핵산 서열의 분석 |
| HUE056267T2 (hu) | 2014-07-18 | 2022-02-28 | Univ Hong Kong Chinese | DNS-keverékek szöveteinek metilációs mintázatelemzése |
| 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 |
| CA2957657A1 (en) | 2014-08-22 | 2016-02-25 | Resolution Bioscience, Inc. | Methods for quantitative genetic analysis of cell free dna |
| US11085084B2 (en) | 2014-09-12 | 2021-08-10 | The Board Of Trustees Of The Leland Stanford Junior University | Identification and use of circulating nucleic acids |
| CN113362891A (zh) | 2014-09-12 | 2021-09-07 | 伊鲁米纳剑桥有限公司 | 用短读测序数据检测重复扩增 |
| EP3018213A1 (en) | 2014-11-04 | 2016-05-11 | Genesupport SA | Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids |
| WO2016077709A1 (en) | 2014-11-14 | 2016-05-19 | Liquid Genomics, Inc. | Use of circulating cell-free rna for diagnosis and/or monitoring cancer |
| EP3230469B1 (en) | 2014-12-12 | 2019-04-03 | Verinata Health, Inc. | Using cell-free dna fragment size to determine copy number variations |
| WO2016097251A1 (en) | 2014-12-19 | 2016-06-23 | Danmarks Tekniske Universitet | Method for identification of tissue or organ localization of a tumour |
| EP3240911B1 (en) | 2014-12-31 | 2020-08-26 | Guardant Health, Inc. | Detection and treatment of disease exhibiting disease cell heterogeneity and systems and methods for communicating test results |
| 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 |
| US10319463B2 (en) | 2015-01-23 | 2019-06-11 | The Chinese University Of Hong Kong | Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations |
| DK3256605T3 (da) | 2015-02-10 | 2022-03-14 | Univ Hong Kong Chinese | Påvisning af mutationer til cancerscreening og føtal analyse |
| EP3265079A4 (en) | 2015-03-03 | 2019-01-02 | Caris MPI, Inc. | Molecular profiling for cancer |
| CN119214645A (zh) | 2015-05-01 | 2024-12-31 | 夸登特健康公司 | 诊断方法 |
| CA2985135A1 (en) | 2015-05-06 | 2016-11-10 | Seracare Life Sciences, Inc. | Liposomal preparations for non-invasive-prenatal or cancer screening |
| EP4428863A3 (en) | 2015-05-11 | 2024-12-11 | Natera, Inc. | Methods and compositions for determining ploidy |
| US20180211002A1 (en) | 2015-07-13 | 2018-07-26 | Agilent Technologies Belgium Nv | System and methodology for the analysis of genomic data obtained from a subject |
| CA2993267A1 (en) | 2015-08-07 | 2017-02-16 | Dana-Farber Cancer Institute, Inc. | Genetic abnormalities in plasma cell dyscrasias |
| WO2017062867A1 (en) | 2015-10-09 | 2017-04-13 | Helmy Eltoukhy | Population based treatment recommender using cell free dna |
| WO2017070497A1 (en) | 2015-10-21 | 2017-04-27 | Dana-Farber Cancer Institute, Inc. | Methods and compositions for use of driver mutations in cll |
| WO2017106768A1 (en) | 2015-12-17 | 2017-06-22 | Guardant Health, Inc. | Methods to determine tumor gene copy number by analysis of cell-free dna |
| US10982286B2 (en) | 2016-01-22 | 2021-04-20 | Mayo Foundation For Medical Education And Research | Algorithmic approach for determining the plasma genome abnormality PGA and the urine genome abnormality UGA scores based on cell free cfDNA copy number variations in plasma and urine |
| WO2017205826A1 (en) | 2016-05-27 | 2017-11-30 | Sequenom, Inc. | Methods for detecting genetic variations |
| CA3041647A1 (en) | 2016-10-24 | 2018-05-03 | The Chinese University Of Hong Kong | Methods and systems for tumor detection |
-
2013
- 2013-03-07 US US13/789,553 patent/US9892230B2/en active Active
- 2013-03-08 LT LTEP17202838.3T patent/LT3301193T/lt unknown
- 2013-03-08 PL PL17202838T patent/PL3301193T3/pl unknown
- 2013-03-08 DK DK13757943.9T patent/DK2823062T5/en active
- 2013-03-08 CN CN201380013054.5A patent/CN104254618B/zh active Active
- 2013-03-08 EP EP24159028.0A patent/EP4382613A3/en active Pending
- 2013-03-08 EP EP22190763.7A patent/EP4112740B1/en active Active
- 2013-03-08 EP EP17209781.8A patent/EP3354748B1/en not_active Revoked
- 2013-03-08 PT PT17202838T patent/PT3301193T/pt unknown
- 2013-03-08 DK DK17202838.3T patent/DK3301193T3/da active
- 2013-03-08 DK DK17209781.8T patent/DK3354748T3/da active
- 2013-03-08 CA CA2865523A patent/CA2865523C/en active Active
- 2013-03-08 DK DK19201127.8T patent/DK3617324T3/da active
- 2013-03-08 EP EP14193706.0A patent/EP2860266B1/en active Active
- 2013-03-08 CN CN201710977855.3A patent/CN107630081B/zh active Active
- 2013-03-08 EP EP13757943.9A patent/EP2823062B2/en active Active
- 2013-03-08 HU HUE17202838 patent/HUE044746T2/hu unknown
- 2013-03-08 CA CA3010254A patent/CA3010254C/en active Active
- 2013-03-08 SI SI201331518T patent/SI3301193T1/sl unknown
- 2013-03-08 AU AU2013229186A patent/AU2013229186B2/en active Active
- 2013-03-08 WO PCT/IB2013/000312 patent/WO2013132305A1/en not_active Ceased
- 2013-03-08 ES ES17209781T patent/ES2761624T3/es active Active
- 2013-03-08 CN CN201710962960.XA patent/CN107630070B/zh active Active
- 2013-03-08 DK DK14193706.0T patent/DK2860266T3/en active
- 2013-03-08 ES ES17202838T patent/ES2729504T3/es active Active
- 2013-03-08 EP EP17202838.3A patent/EP3301193B1/en active Active
- 2013-03-08 EP EP21172741.7A patent/EP3882358B1/en active Active
- 2013-03-08 SM SM20190409T patent/SMT201900409T1/it unknown
- 2013-03-08 EP EP19170660.5A patent/EP3575412B1/en active Active
- 2013-03-08 EP EP20209747.3A patent/EP3800272B1/en active Active
- 2013-03-08 EP EP19201127.8A patent/EP3617324B1/en active Active
- 2013-03-08 ES ES13757943.9T patent/ES2659487T3/es active Active
- 2013-03-08 RS RS20190946A patent/RS59073B1/sr unknown
- 2013-03-08 JP JP2014560451A patent/JP6073382B2/ja active Active
-
2017
- 2017-01-04 JP JP2017000134A patent/JP6392904B2/ja active Active
- 2017-01-20 US US15/411,695 patent/US10741270B2/en active Active
- 2017-02-24 AU AU2017201258A patent/AU2017201258B2/en active Active
- 2017-05-05 US US15/587,662 patent/US10297342B2/en active Active
-
2018
- 2018-01-30 US US15/883,648 patent/US11217330B2/en active Active
- 2018-08-23 JP JP2018156137A patent/JP6721642B2/ja active Active
-
2019
- 2019-07-09 AU AU2019204917A patent/AU2019204917B2/en active Active
- 2019-07-18 HR HRP20191300TT patent/HRP20191300T1/hr unknown
- 2019-07-24 CY CY20191100784T patent/CY1121828T1/el unknown
-
2020
- 2020-06-18 JP JP2020105483A patent/JP6849257B2/ja active Active
- 2020-06-26 US US16/913,510 patent/US11031100B2/en active Active
-
2021
- 2021-02-25 JP JP2021028536A patent/JP7197209B2/ja active Active
- 2021-05-06 US US17/313,880 patent/US20210257053A1/en active Pending
- 2021-11-05 US US17/520,450 patent/US20220093212A1/en active Pending
-
2022
- 2022-05-17 AU AU2022203292A patent/AU2022203292A1/en not_active Abandoned
- 2022-12-08 JP JP2022196192A patent/JP2023017006A/ja active Pending
-
2024
- 2024-05-22 JP JP2024083480A patent/JP2024100931A/ja active Pending
Also Published As
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| ES2761624T3 (es) | Análisis de ADN basado en el tamaño para la clasificación del cáncer | |
| HK40059955A (en) | Size-based analysis of dna for classification of cancer | |
| HK40084570B (en) | Size-based analysis of fetal dna fraction in maternal plasma | |
| HK40041430B (en) | Size-based analysis of fetal dna fraction in maternal plasma | |
| HK40041430A (en) | Size-based analysis of fetal dna fraction in maternal plasma | |
| HK40019612A (en) | Size-based analysis of dna for classification of cancer | |
| HK40019612B (en) | Size-based analysis of dna for classification of cancer | |
| HK1261405B (en) | Size-based analysis of dna for classification of cancer | |
| HK1246361B (zh) | 母体血浆中胎儿dna分数的基於大小的分析 | |
| HK1245842B (zh) | 母体血浆中胎儿dna分数的基於大小的分析 | |
| HK1202135B (en) | Size-based analysis of fetal dna fraction in maternal plasma |