TWI445854B - 基於大小之基因體分析 - Google Patents
基於大小之基因體分析 Download PDFInfo
- Publication number
- TWI445854B TWI445854B TW099138272A TW99138272A TWI445854B TW I445854 B TWI445854 B TW I445854B TW 099138272 A TW099138272 A TW 099138272A TW 99138272 A TW99138272 A TW 99138272A TW I445854 B TWI445854 B TW I445854B
- Authority
- TW
- Taiwan
- Prior art keywords
- chromosome
- size
- nucleic acid
- value
- biological sample
- Prior art date
Links
- 238000011331 genomic analysis Methods 0.000 title description 4
- 210000000349 chromosome Anatomy 0.000 claims description 526
- 210000003754 fetus Anatomy 0.000 claims description 154
- 108020004414 DNA Proteins 0.000 claims description 149
- 150000007523 nucleic acids Chemical class 0.000 claims description 136
- 102000039446 nucleic acids Human genes 0.000 claims description 117
- 108020004707 nucleic acids Proteins 0.000 claims description 117
- 238000000034 method Methods 0.000 claims description 116
- 230000001605 fetal effect Effects 0.000 claims description 105
- 238000009826 distribution Methods 0.000 claims description 103
- 230000008774 maternal effect Effects 0.000 claims description 96
- 239000012472 biological sample Substances 0.000 claims description 59
- 208000036878 aneuploidy Diseases 0.000 claims description 57
- 102000054766 genetic haplotypes Human genes 0.000 claims description 56
- 231100001075 aneuploidy Toxicity 0.000 claims description 55
- 238000012163 sequencing technique Methods 0.000 claims description 51
- 230000002759 chromosomal effect Effects 0.000 claims description 36
- 238000000926 separation method Methods 0.000 claims description 31
- 238000003793 prenatal diagnosis Methods 0.000 claims description 23
- 108091028043 Nucleic acid sequence Proteins 0.000 claims description 16
- 238000012360 testing method Methods 0.000 claims description 13
- 238000003556 assay Methods 0.000 claims description 12
- 230000008775 paternal effect Effects 0.000 claims description 11
- 210000004369 blood Anatomy 0.000 claims description 9
- 239000008280 blood Substances 0.000 claims description 9
- 238000005259 measurement Methods 0.000 claims description 8
- 210000004027 cell Anatomy 0.000 claims description 6
- 238000004590 computer program Methods 0.000 claims description 6
- 239000012530 fluid Substances 0.000 claims 1
- 210000002381 plasma Anatomy 0.000 claims 1
- 210000003296 saliva Anatomy 0.000 claims 1
- 210000002966 serum Anatomy 0.000 claims 1
- 210000002700 urine Anatomy 0.000 claims 1
- 239000012634 fragment Substances 0.000 description 151
- 102000053602 DNA Human genes 0.000 description 148
- 108090000623 proteins and genes Proteins 0.000 description 124
- 230000009977 dual effect Effects 0.000 description 93
- 208000037280 Trisomy Diseases 0.000 description 62
- 238000004458 analytical method Methods 0.000 description 58
- 239000000523 sample Substances 0.000 description 57
- 230000000875 corresponding effect Effects 0.000 description 16
- 238000001514 detection method Methods 0.000 description 15
- 239000003153 chemical reaction reagent Substances 0.000 description 8
- 238000010586 diagram Methods 0.000 description 8
- 239000002773 nucleotide Substances 0.000 description 8
- 125000003729 nucleotide group Chemical group 0.000 description 8
- 238000003752 polymerase chain reaction Methods 0.000 description 8
- 201000010099 disease Diseases 0.000 description 7
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 7
- 230000035772 mutation Effects 0.000 description 7
- 210000001766 X chromosome Anatomy 0.000 description 6
- 230000035945 sensitivity Effects 0.000 description 6
- 210000002593 Y chromosome Anatomy 0.000 description 5
- 230000008859 change Effects 0.000 description 5
- 238000005516 engineering process Methods 0.000 description 5
- 230000000392 somatic effect Effects 0.000 description 5
- 230000003321 amplification Effects 0.000 description 4
- 230000008901 benefit Effects 0.000 description 4
- 238000003745 diagnosis Methods 0.000 description 4
- 238000002474 experimental method Methods 0.000 description 4
- 238000004519 manufacturing process Methods 0.000 description 4
- 238000003199 nucleic acid amplification method Methods 0.000 description 4
- 230000003287 optical effect Effects 0.000 description 4
- 230000009467 reduction Effects 0.000 description 4
- 229920002477 rna polymer Polymers 0.000 description 4
- 239000007787 solid Substances 0.000 description 4
- 108020004705 Codon Proteins 0.000 description 3
- 238000001712 DNA sequencing Methods 0.000 description 3
- 230000005540 biological transmission Effects 0.000 description 3
- 230000002068 genetic effect Effects 0.000 description 3
- 230000035935 pregnancy Effects 0.000 description 3
- 238000002360 preparation method Methods 0.000 description 3
- 238000000746 purification Methods 0.000 description 3
- 239000013074 reference sample Substances 0.000 description 3
- 210000003765 sex chromosome Anatomy 0.000 description 3
- 238000004904 shortening Methods 0.000 description 3
- 239000004055 small Interfering RNA Substances 0.000 description 3
- 238000003860 storage Methods 0.000 description 3
- 108700011259 MicroRNAs Proteins 0.000 description 2
- 102100030569 Nuclear receptor corepressor 2 Human genes 0.000 description 2
- 101710153660 Nuclear receptor corepressor 2 Proteins 0.000 description 2
- 108091027967 Small hairpin RNA Proteins 0.000 description 2
- 230000002159 abnormal effect Effects 0.000 description 2
- 230000005856 abnormality Effects 0.000 description 2
- 230000003322 aneuploid effect Effects 0.000 description 2
- 238000013459 approach Methods 0.000 description 2
- 238000006243 chemical reaction Methods 0.000 description 2
- 210000004252 chorionic villi Anatomy 0.000 description 2
- 238000012937 correction Methods 0.000 description 2
- 238000012217 deletion Methods 0.000 description 2
- 238000013461 design Methods 0.000 description 2
- 238000007847 digital PCR Methods 0.000 description 2
- 230000006870 function Effects 0.000 description 2
- 238000009396 hybridization Methods 0.000 description 2
- 150000002500 ions Chemical class 0.000 description 2
- 230000009191 jumping Effects 0.000 description 2
- 230000003902 lesion Effects 0.000 description 2
- 230000004807 localization Effects 0.000 description 2
- 238000004949 mass spectrometry Methods 0.000 description 2
- 239000002679 microRNA Substances 0.000 description 2
- 238000002493 microarray Methods 0.000 description 2
- 230000002018 overexpression Effects 0.000 description 2
- 239000012071 phase Substances 0.000 description 2
- 102000054765 polymorphisms of proteins Human genes 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
- 239000000344 soap Substances 0.000 description 2
- 241000894007 species Species 0.000 description 2
- 238000006467 substitution reaction Methods 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
- 108091032955 Bacterial small RNA Proteins 0.000 description 1
- 240000005589 Calophyllum inophyllum Species 0.000 description 1
- 206010008805 Chromosomal abnormalities Diseases 0.000 description 1
- 208000031404 Chromosome Aberrations Diseases 0.000 description 1
- 108091026890 Coding region Proteins 0.000 description 1
- 201000010374 Down Syndrome Diseases 0.000 description 1
- 201000006360 Edwards syndrome Diseases 0.000 description 1
- 241000283073 Equus caballus Species 0.000 description 1
- 108700024394 Exon Proteins 0.000 description 1
- 208000022471 Fetal disease Diseases 0.000 description 1
- 206010071602 Genetic polymorphism Diseases 0.000 description 1
- 108091092195 Intron Proteins 0.000 description 1
- 208000017924 Klinefelter Syndrome Diseases 0.000 description 1
- 238000001282 Kruskal–Wallis one-way analysis of variance Methods 0.000 description 1
- 241001465754 Metazoa Species 0.000 description 1
- 108091034117 Oligonucleotide Proteins 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
- 208000007159 Trisomy 18 Syndrome Diseases 0.000 description 1
- 208000026928 Turner syndrome Diseases 0.000 description 1
- 239000002253 acid Substances 0.000 description 1
- 239000000654 additive Substances 0.000 description 1
- 230000000996 additive effect Effects 0.000 description 1
- 239000011324 bead Substances 0.000 description 1
- 208000005980 beta thalassemia Diseases 0.000 description 1
- 230000015572 biosynthetic process Effects 0.000 description 1
- 238000004422 calculation algorithm Methods 0.000 description 1
- 238000004364 calculation method Methods 0.000 description 1
- 238000007451 chromatin immunoprecipitation sequencing Methods 0.000 description 1
- 238000004891 communication Methods 0.000 description 1
- 230000000052 comparative effect Effects 0.000 description 1
- 230000000295 complement effect Effects 0.000 description 1
- 239000002299 complementary DNA Substances 0.000 description 1
- 230000001276 controlling effect Effects 0.000 description 1
- 230000002596 correlated effect Effects 0.000 description 1
- 238000009795 derivation Methods 0.000 description 1
- 238000002405 diagnostic procedure Methods 0.000 description 1
- 238000006073 displacement reaction Methods 0.000 description 1
- 238000001962 electrophoresis Methods 0.000 description 1
- 239000000839 emulsion Substances 0.000 description 1
- 230000001973 epigenetic effect Effects 0.000 description 1
- 238000000556 factor analysis Methods 0.000 description 1
- 238000007672 fourth generation sequencing Methods 0.000 description 1
- 230000014509 gene expression Effects 0.000 description 1
- 238000012252 genetic analysis Methods 0.000 description 1
- 230000036541 health Effects 0.000 description 1
- 238000001727 in vivo Methods 0.000 description 1
- 238000003780 insertion Methods 0.000 description 1
- 230000037431 insertion Effects 0.000 description 1
- 210000000265 leukocyte Anatomy 0.000 description 1
- 238000013507 mapping Methods 0.000 description 1
- 238000000691 measurement method Methods 0.000 description 1
- 238000011880 melting curve analysis Methods 0.000 description 1
- 108020004999 messenger RNA Proteins 0.000 description 1
- 230000011987 methylation Effects 0.000 description 1
- 238000007069 methylation reaction Methods 0.000 description 1
- 239000000203 mixture Substances 0.000 description 1
- 239000002808 molecular sieve Substances 0.000 description 1
- 238000010606 normalization Methods 0.000 description 1
- 239000002777 nucleoside Substances 0.000 description 1
- 125000003835 nucleoside group Chemical group 0.000 description 1
- 230000002093 peripheral effect Effects 0.000 description 1
- 229920000642 polymer Polymers 0.000 description 1
- 229920001184 polypeptide Polymers 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
- 230000008707 rearrangement Effects 0.000 description 1
- 230000003252 repetitive effect Effects 0.000 description 1
- 238000011160 research Methods 0.000 description 1
- 238000005096 rolling process Methods 0.000 description 1
- 238000005070 sampling Methods 0.000 description 1
- 239000004065 semiconductor Substances 0.000 description 1
- URGAHOPLAPQHLN-UHFFFAOYSA-N sodium aluminosilicate Chemical compound [Na+].[Al+3].[O-][Si]([O-])=O.[O-][Si]([O-])=O URGAHOPLAPQHLN-UHFFFAOYSA-N 0.000 description 1
- 239000007790 solid phase Substances 0.000 description 1
- 238000010186 staining Methods 0.000 description 1
- 238000007619 statistical method Methods 0.000 description 1
- 238000012109 statistical procedure Methods 0.000 description 1
- 210000000130 stem cell Anatomy 0.000 description 1
- 238000003786 synthesis reaction Methods 0.000 description 1
- 206010053884 trisomy 18 Diseases 0.000 description 1
- 230000003612 virological effect Effects 0.000 description 1
- 230000036266 weeks of gestation Effects 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
- C12Q1/6809—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
- C12Q1/6876—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
-
- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
Landscapes
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Physics & Mathematics (AREA)
- Analytical Chemistry (AREA)
- Organic Chemistry (AREA)
- Genetics & Genomics (AREA)
- Biotechnology (AREA)
- Molecular Biology (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Evolutionary Biology (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US25907609P | 2009-11-06 | 2009-11-06 | |
| US36039910P | 2010-06-30 | 2010-06-30 |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| TW201129736A TW201129736A (en) | 2011-09-01 |
| TWI445854B true TWI445854B (zh) | 2014-07-21 |
Family
ID=43530526
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| TW099138272A TWI445854B (zh) | 2009-11-06 | 2010-11-05 | 基於大小之基因體分析 |
Country Status (12)
| Country | Link |
|---|---|
| US (4) | US8620593B2 (https=) |
| EP (3) | EP2496713B1 (https=) |
| JP (2) | JP5770737B2 (https=) |
| CN (2) | CN102791881B (https=) |
| AU (1) | AU2010317019B2 (https=) |
| CA (1) | CA2780016C (https=) |
| EA (1) | EA034241B1 (https=) |
| ES (1) | ES3026544T3 (https=) |
| IL (1) | IL219545A (https=) |
| MX (2) | MX357692B (https=) |
| TW (1) | TWI445854B (https=) |
| WO (1) | WO2011054936A1 (https=) |
Families Citing this family (76)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| LT2557517T (lt) * | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| CA2717320A1 (en) | 2008-03-11 | 2009-09-17 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
| 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 |
| LT3783110T (lt) | 2009-11-05 | 2023-01-25 | The Chinese University Of Hong Kong | Vaisiaus genomo analizė iš motinos biologinio mėginio |
| EA034241B1 (ru) * | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
| EP3088532B1 (en) | 2009-12-22 | 2019-10-30 | Sequenom, Inc. | Processes and kits for identifying aneuploidy |
| CN101921874B (zh) * | 2010-06-30 | 2013-09-11 | 深圳华大基因科技有限公司 | 基于Solexa测序法的检测人类乳头瘤病毒的方法 |
| US10167508B2 (en) | 2010-08-06 | 2019-01-01 | Ariosa Diagnostics, Inc. | Detection of genetic abnormalities |
| US11203786B2 (en) | 2010-08-06 | 2021-12-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| US11031095B2 (en) | 2010-08-06 | 2021-06-08 | Ariosa Diagnostics, Inc. | Assay systems for determination of fetal copy number variation |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
| US10533223B2 (en) | 2010-08-06 | 2020-01-14 | 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 |
| MX349568B (es) | 2010-11-30 | 2017-08-03 | Univ Hong Kong Chinese | Deteccion de aberraciones geneticas o moleculares asociadas con el cancer. |
| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| 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 |
| US8756020B2 (en) | 2011-01-25 | 2014-06-17 | Ariosa Diagnostics, Inc. | Enhanced risk probabilities using biomolecule estimations |
| WO2012149339A2 (en) | 2011-04-29 | 2012-11-01 | Sequenom, Inc. | Quantification of a minority nucleic acid species |
| US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| WO2013060762A1 (en) * | 2011-10-25 | 2013-05-02 | Roche Diagnostics Gmbh | Method for diagnosing a disease based on plasma-dna distribution |
| HK1206055A1 (en) | 2012-03-02 | 2015-12-31 | 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 |
| JP6411995B2 (ja) * | 2012-03-13 | 2018-10-24 | ザ チャイニーズ ユニバーシティー オブ ホンコン | 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法 |
| US10289800B2 (en) | 2012-05-21 | 2019-05-14 | Ariosa Diagnostics, Inc. | Processes for calculating phased fetal genomic sequences |
| 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 |
| US11261494B2 (en) | 2012-06-21 | 2022-03-01 | The Chinese University Of Hong Kong | Method of measuring a fractional concentration of tumor DNA |
| US20140093873A1 (en) | 2012-07-13 | 2014-04-03 | Sequenom, Inc. | Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses |
| JP2015522293A (ja) | 2012-07-19 | 2015-08-06 | アリオサ ダイアグノスティックス インコーポレイテッドＡｒｉｏｓａ Ｄｉａｇｎｏｓｔｉｃｓ，Ｉｎｃ． | 多重化連続ライゲーションに基づく遺伝子変異体の検出 |
| GB201215449D0 (en) * | 2012-08-30 | 2012-10-17 | Zoragen Biotechnologies Llp | Method of detecting chromosonal abnormalities |
| BR122021021823B1 (pt) | 2012-09-20 | 2023-04-25 | The Chinese University Of Hong Kong | Método para determinar um primeiro perfil de metilação de uma amostra biológica de um organismo, e, meio de armazenamento de memória |
| US10482994B2 (en) | 2012-10-04 | 2019-11-19 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| HK1216655A1 (zh) | 2013-03-13 | 2016-11-25 | Sequenom, Inc. | 用於dna甲基化分析的引物 |
| TWI637058B (zh) | 2013-03-15 | 2018-10-01 | 香港中文大學 | 測定多胞胎妊娠之胎兒基因組 |
| CN112037860B (zh) * | 2013-06-13 | 2024-02-23 | 豪夫迈·罗氏有限公司 | 用于非入侵性性染色体非整倍性确定的统计分析 |
| HUE042654T2 (hu) * | 2013-06-21 | 2019-07-29 | Sequenom Inc | Eljárás genetikai variációk nem-invazív megállapítására |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2950596C (en) | 2014-05-30 | 2023-10-31 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| AU2015269103B2 (en) | 2014-06-06 | 2021-12-23 | Cornell University | Method for identification and enumeration of nucleic acid sequence, expression, copy, or DNA methylation changes, using combined nuclease, ligase, polymerase, and sequencing reactions |
| ES2741400T3 (es) | 2014-07-18 | 2020-02-10 | Univ Hong Kong Chinese | Análisis de patrones de metilación de tejidos en mezcla de ADN |
| CN107002122B (zh) | 2014-07-25 | 2023-09-19 | 华盛顿大学 | 确定导致无细胞dna的产生的组织和/或细胞类型的方法以及使用其鉴定疾病或紊乱的方法 |
| EP3175236B1 (en) * | 2014-08-01 | 2019-08-21 | Ariosa Diagnostics, Inc. | Detection of target nucleic acids using hybridization |
| EP3502273B1 (en) | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| US11242559B2 (en) | 2015-01-13 | 2022-02-08 | The Chinese University Of Hong Kong | Method of nuclear DNA and mitochondrial DNA analysis |
| 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 |
| EP3256605B1 (en) | 2015-02-10 | 2022-02-09 | The Chinese University Of Hong Kong | Detecting mutations for cancer screening and fetal analysis |
| 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 |
| PL3666902T3 (pl) | 2015-05-22 | 2025-02-03 | Medicover Public Co Ltd | Multipleksowa równoległa analiza docelowych regionów genomowych do nieinwazyjnych badań prenatalnych |
| EP4063517B1 (en) | 2015-07-20 | 2026-01-07 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in cell-free dna mixtures of maternal and fetal dna |
| IL305462A (en) | 2015-07-23 | 2023-10-01 | Univ Hong Kong Chinese | DNA fragmentation pattern analysis suitable clean |
| CA2995422A1 (en) | 2015-08-12 | 2017-02-16 | The Chinese University Of Hong Kong | Single-molecule sequencing of plasma dna |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| KR20190017738A (ko) * | 2016-04-11 | 2019-02-20 | 퀀텀 바이오시스템즈 가부시키가이샤 | 생물학적 데이터 관리를 위한 시스템 및 방법 |
| EP3518974A4 (en) | 2016-09-29 | 2020-05-27 | Myriad Women's Health, Inc. | NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION |
| EP4209598A1 (en) | 2016-10-19 | 2023-07-12 | The Chinese University of Hong Kong | Gestational age assessment by methylation and size profiling of maternal plasma dna |
| TWI797095B (zh) | 2016-10-24 | 2023-04-01 | 美商格瑞爾有限責任公司 | 腫瘤檢測之方法及系統 |
| 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 |
| EP4421489B1 (en) | 2017-01-25 | 2026-03-11 | The Chinese University of Hong Kong | Diagnostic applications using nucleic acid fragments |
| JP7370862B2 (ja) | 2017-03-17 | 2023-10-30 | セクエノム， インコーポレイテッド | 遺伝子モザイク症のための方法およびプロセス |
| CN110914456A (zh) * | 2017-03-31 | 2020-03-24 | 普莱梅沙有限公司 | 检测胎儿染色体异常的方法 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| IL316163A (en) | 2017-07-26 | 2024-12-01 | Univ Hong Kong Chinese | Enhancement of cancer screening using cell-free viral nucleic acids |
| US11168356B2 (en) | 2017-11-02 | 2021-11-09 | The Chinese University Of Hong Kong | Using nucleic acid size range for noninvasive cancer detection |
| CN108827887B (zh) * | 2018-03-19 | 2021-05-18 | 陕西学前师范学院 | 一种商陆基因组大小估计方法及基因组大小测量系统 |
| KR20210014111A (ko) | 2018-05-03 | 2021-02-08 | 더 차이니즈 유니버시티 오브 홍콩 | 세포-무함유 혼합물의 특성을 측정하기 위한 크기-태깅된 바람직한 말단 및 배향-인지 분석 |
| WO2020192680A1 (en) | 2019-03-25 | 2020-10-01 | The Chinese University Of Hong Kong | Determining linear and circular forms of circulating nucleic acids |
| 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 |
| BR112022015073A2 (pt) | 2020-02-05 | 2022-11-16 | Univ Hong Kong Chinese | Método de análise de uma amostra biológica, produto de programa de computador, mídia de armazenamento, e, sistema de computação |
Family Cites Families (23)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| 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. |
| 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 |
| WO2004078999A1 (en) | 2003-03-05 | 2004-09-16 | Genetic Technologies Limited | 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 |
| DE60328193D1 (de) * | 2003-10-16 | 2009-08-13 | Sequenom Inc | Nicht invasiver Nachweis fötaler genetischer Merkmale |
| CA2601221C (en) * | 2005-03-18 | 2013-08-06 | The Chinese University Of Hong Kong | A 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 |
| TR201910868T4 (tr) | 2006-02-02 | 2019-08-21 | Univ Leland Stanford Junior | Dijital analizle invazif olmayan fetal genetik tarama. |
| EP2351858B1 (en) | 2006-02-28 | 2014-12-31 | University of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| ES2391212T3 (es) * | 2006-12-07 | 2012-11-22 | Novartis Ag | Cribado genético prenatal no-invasivo |
| US12180549B2 (en) * | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| LT2557517T (lt) | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| US20090053719A1 (en) | 2007-08-03 | 2009-02-26 | The Chinese University Of Hong Kong | Analysis of nucleic acids by digital pcr |
| WO2010053980A2 (en) | 2008-11-04 | 2010-05-14 | The Johns Hopkins University | Dna integrity assay (dia) for cancer diagnostics, using confocal fluorescence spectroscopy |
| SG174401A1 (en) | 2009-03-31 | 2011-11-28 | Oridis Biomarkers 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 |
| EA034241B1 (ru) * | 2009-11-06 | 2020-01-21 | Те Чайниз Юниверсити Ов Гонконг | Способ пренатальной диагностики дисбаланса последовательности |
| ES2534758T3 (es) | 2010-01-19 | 2015-04-28 | Verinata Health, Inc. | Métodos de secuenciación en diagnósticos prenatales |
| CA2786564A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| WO2011103236A2 (en) | 2010-02-18 | 2011-08-25 | The Johns Hopkins University | Personalized tumor biomarkers |
| 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 |
-
2010
- 2010-11-05 EA EA201200701A patent/EA034241B1/ru unknown
- 2010-11-05 MX MX2015002302A patent/MX357692B/es unknown
- 2010-11-05 MX MX2012005217A patent/MX2012005217A/es active IP Right Grant
- 2010-11-05 ES ES23160186T patent/ES3026544T3/es active Active
- 2010-11-05 WO PCT/EP2010/066935 patent/WO2011054936A1/en not_active Ceased
- 2010-11-05 TW TW099138272A patent/TWI445854B/zh active
- 2010-11-05 EP EP10779290.5A patent/EP2496713B1/en active Active
- 2010-11-05 CN CN201080059269.7A patent/CN102791881B/zh active Active
- 2010-11-05 US US12/940,992 patent/US8620593B2/en active Active
- 2010-11-05 EP EP18182983.9A patent/EP3406737B1/en active Active
- 2010-11-05 CN CN201710549501.9A patent/CN107312844B/zh active Active
- 2010-11-05 EP EP23160186.5A patent/EP4212630B1/en active Active
- 2010-11-05 AU AU2010317019A patent/AU2010317019B2/en active Active
- 2010-11-05 JP JP2012537410A patent/JP5770737B2/ja active Active
- 2010-11-05 CA CA2780016A patent/CA2780016C/en active Active
-
2012
- 2012-05-02 IL IL219545A patent/IL219545A/en active IP Right Grant
-
2013
- 2013-11-25 US US14/089,720 patent/US9982300B2/en active Active
-
2015
- 2015-04-27 JP JP2015090264A patent/JP6001721B2/ja active Active
-
2018
- 2018-04-20 US US15/958,376 patent/US11365448B2/en active Active
-
2022
- 2022-05-12 US US17/742,749 patent/US20220282332A1/en active Pending
Also Published As
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| US20220282332A1 (en) | Size-based genomic analysis | |
| TWI611186B (zh) | 多重妊娠之分子檢驗 | |
| CN102770558B (zh) | 由母本生物样品进行胎儿基因组的分析 | |
| CN107083425B (zh) | 利用基因组测序诊断胎儿染色体非整倍性 | |
| HK40097683B (en) | Size‑based genomic analysis for prenatal diagnosis | |
| HK40097683A (en) | Size‑based genomic analysis for prenatal diagnosis | |
| AU2015200462B2 (en) | Size-based genomic analysis | |
| HK40001037A (en) | Size-based genomic analysis | |
| HK40001037B (en) | Size-based genomic analysis | |
| HK1240282A1 (en) | Size-based genomic analysis | |
| HK1240282B (zh) | 基於大小的基因组分析 | |
| HK1175818B (en) | Size-based genomic analysis | |
| HK1175818A (en) | Size-based genomic analysis | |
| EA042606B1 (ru) | Геномный анализ на основе размеров | |
| EA050583B1 (ru) | Геномный анализ на основе размеров | |
| BR112012010708B1 (pt) | Método para realizar diagnóstico pré-natal, e, meio de armazenamento legível por computador | |
| HK1238304B (zh) | 利用基因组测序诊断胎儿染色体非整倍性 | |
| HK1239899B (zh) | 用於分析癌症相关的遗传变异的系统 | |
| 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 |