HRP20220296T1 - Razrješavanje frakcija genoma pomoću brojanja polimorfizma - Google Patents
Razrješavanje frakcija genoma pomoću brojanja polimorfizma Download PDFInfo
- Publication number
- HRP20220296T1 HRP20220296T1 HRP20220296TT HRP20220296T HRP20220296T1 HR P20220296 T1 HRP20220296 T1 HR P20220296T1 HR P20220296T T HRP20220296T T HR P20220296TT HR P20220296 T HRP20220296 T HR P20220296T HR P20220296 T1 HRP20220296 T1 HR P20220296T1
- Authority
- HR
- Croatia
- Prior art keywords
- dna
- polymorphism
- polymorphisms
- fetus
- pregnant woman
- Prior art date
Links
- 108020004414 DNA Proteins 0.000 claims 25
- 102000054765 polymorphisms of proteins Human genes 0.000 claims 15
- 108700028369 Alleles Proteins 0.000 claims 13
- 210000003754 fetus Anatomy 0.000 claims 12
- 230000001605 fetal effect Effects 0.000 claims 11
- 238000000034 method Methods 0.000 claims 11
- 239000000523 sample Substances 0.000 claims 10
- 210000001124 body fluid Anatomy 0.000 claims 7
- 108091028043 Nucleic acid sequence Proteins 0.000 claims 6
- 239000010839 body fluid Substances 0.000 claims 6
- 238000013507 mapping Methods 0.000 claims 5
- 230000008774 maternal effect Effects 0.000 claims 4
- 108091033319 polynucleotide Proteins 0.000 claims 4
- 102000040430 polynucleotide Human genes 0.000 claims 4
- 239000002157 polynucleotide Substances 0.000 claims 4
- 238000012163 sequencing technique Methods 0.000 claims 4
- 238000001712 DNA sequencing Methods 0.000 claims 3
- 238000009396 hybridization Methods 0.000 claims 3
- 150000007523 nucleic acids Chemical group 0.000 claims 3
- 239000008280 blood Substances 0.000 claims 2
- 210000004369 blood Anatomy 0.000 claims 2
- 238000001914 filtration Methods 0.000 claims 2
- 239000000758 substrate Substances 0.000 claims 2
- 238000007400 DNA extraction Methods 0.000 claims 1
- 230000003321 amplification Effects 0.000 claims 1
- 230000015572 biosynthetic process Effects 0.000 claims 1
- 238000000605 extraction Methods 0.000 claims 1
- 230000000977 initiatory effect Effects 0.000 claims 1
- 238000012423 maintenance Methods 0.000 claims 1
- 238000003199 nucleic acid amplification method Methods 0.000 claims 1
- 108020004707 nucleic acids Proteins 0.000 claims 1
- 102000039446 nucleic acids Human genes 0.000 claims 1
- 230000008520 organization Effects 0.000 claims 1
- 238000003786 synthesis reaction Methods 0.000 claims 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
-
- 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
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
- G16B30/10—Sequence alignment; Homology search
-
- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
- G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
-
- 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
- G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- 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)
- Analytical Chemistry (AREA)
- Organic Chemistry (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Genetics & Genomics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Medical Informatics (AREA)
- Molecular Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Data Mining & Analysis (AREA)
- Pathology (AREA)
- Epidemiology (AREA)
- Bioethics (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Databases & Information Systems (AREA)
- Artificial Intelligence (AREA)
- Evolutionary Computation (AREA)
- Public Health (AREA)
- Software Systems (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Algebra (AREA)
Claims (12)
1. Postupak procjene udjela fetalne DNK u DNK dobivenoj iz tjelesne tekućine trudnice, te postupak uključuje:
(a) poravnavanje ili mapiranje na drugi način segmenata sekvenci DNK izvedenih sekvenciranjem DNK u tjelesnoj tekućini na jedan ili više označenih polimorfizama na referentnoj sekvenci, pri čemu se poravnavanje ili mapiranje na drugi način izvodi pomoću računalnog uređaja programiranog za mapiranje sekvenci nukleinskih kiselina na jedan ili više označenih polimorfizama;
(b) određivanje frekvencija alela mapiranih segmenata sekvenci DNK za najmanje jedan od naznačenih polimorfizama;
(c) razvrstavanje najmanje jednog označenog polimorfizma na temelju kombinacije zigotnosti trudnice i zigotnosti fetusa; i
(d) procjenjivanje udjela fetalne DNK u DNK dobivenoj od trudne jedinke korištenjem frekvencija alela određenih u (b) u vezi s klasifikacijom zigoziteta iz (c),
pri čemu se koraci (b)-(d) izvode na jednom ili više procesora koji rade prema programskim uputama radi određivanja, klasifikacije i procjene; i
pri čemu klasifikacija u (c) klasificira najmanje jedan naznačeni polimorfizam u jednu od sljedećih kombinacija: (i) trudnica je homozigotna i fetus je homozigotan, (ii) trudnica je homozigotna, a fetus je heterozigotan, (iii) trudnica je heterozigotna i fetus je homozigotan, i (iv) trudnica je heterozigotna i fetus je heterozigotan.
2. Postupak prema patentnom zahtjevu 1 naznačen time što:
(a) dalje uključuje uklanjanje iz razmatranja bilo kojeg polimorfizma klasificiranog u kombinaciju (i) ili kombinaciju (iv);
(b) dalje obuhvaća filtriranje najmanje jednog označenog polimorfizma kako bi se uklonio iz razmatranja bilo koji polimorfizam koji ima frekvenciju sporednog alela veću od definiranog praga;
(c) dalje uključuje filtriranje najmanje jednog označenog polimorfizma kako bi se uklonio iz razmatranja bilo koji polimorfizam koji ima frekvenciju sporednog alela manju od definiranog praga;
(d) pri čemu klasificiranje najmanje jednog označenog polimorfizma uključuje primjenu praga na frekvenciju alela utvrđenu u (b);
(e) pri čemu klasificiranje najmanje jednog označenog polimorfizma uključuje primjenu podataka o frekvenciji alela iz (b), dobivenih za mnoštvo polimorfizama, na mješoviti model, po izboru pri čemu mješoviti model koristi faktorske momente;
(f) pri čemu DNK dobivena iz tjelesne tekućine trudne osobe je DNK bez stanica dobivena iz plazme trudne osobe;
(g) pri čemu mapiranje segmenata DNK dobivenih iz krvi osobe koja nosi fetus obuhvaća računalno mapiranje navedenih segmenata u bazu podataka polimorfizama;
(h) naznačen time što dalje sadrži izvršavanje programskih instrukcija na jednom ili više procesora za automatsko bilježenje udjela fetalne DNK kako je procijenjeno u (d) u medicinskom zapisu pacijenta, pohranjenom na računalno čitljivom mediju, za trudnu osobu;
(i) pri čemu nadalje obuhvaća, na temelju procjene udjela fetalne DNK, propisivanje, započinjanje i/ili mijenjanje liječenja ljudskog subjekta od kojeg je uzet majčin testni uzorak; ili
(j) pri čemu nadalje obuhvaća, na temelju procjene udjela fetalne DNK, naručivanje i/ili provođenje jednog ili više dodatnih testova.
3. Postupak prema patentnom zahtjevu 1 naznačen time što dalje sadrži, prije koraka (a), sekvenciranje DNK sekvencerom nukleinske kiseline pod uvjetima koji proizvode segmente sekvence DNK koji sadrže jedan ili više polimorfizama, izborno pri čemu se sekvenciranje provodi bez selektivnog pojačavanja bilo kojeg od ili više označenih polimorfizama.
4. Postupak prema patentnom zahtjevu 3, naznačen time što dalje sadrži, prije sekvenciranja DNK, ekstrakciju DNK iz uzorka pod uvjetima koji ekstrahiraju DNK i majčinog genoma i fetalnog genoma koji je prisutan u tjelesnoj tekućini.
5. Postupak prema patentnom zahtjevu 4, naznačen time što dalje sadrži, prije ekstrakcije DNK iz uzorka, primanje uzorka tjelesne tekućine.
6. Postupak prema bilo kojem od patentnih zahtjeva 3-5, naznačen time što obuhvaća sekvenciranje sintezom.
7. Postupak prema bilo kojem od patentnih zahtjeva 3-5, naznačen time što obuhvaća sekvenciranje hibridizacijom.
8. Postupak prema patentnom zahtjevu 7, naznačen time što hibridizacija uključuje dovođenje u kontakt više polinukleotidnih sekvenci s mnoštvom polinukleotidnih sondi, pri čemu je svaka od mnoštva polinukleotidnih sondi vezana za supstrat, pri čemu je supstrat ravna površina koja sadrži niz poznatih nukleotidnih sekvenci.
9. Postupak prema patentnom zahtjevu 8, naznačen time što se uzorak hibridizacije na niz koristi za određivanje polinukleotidnih sekvenci prisutnih u uzorku.
10. Postupak prema bilo kojem od patentnih zahtjeva 1-9, naznačen time što je referentna sekvenca pohranjena lista ili druga organizirana zbirka podataka o referentnim polimorfizmima za trudnicu, izborno pri čemu je referentna sekvenca baza podataka sekvenci, na primjer baza podataka sekvenci alela.
11. Uređaj za procjenu udjela fetalne DNK u DNK dobivenoj iz tjelesne tekućine trudne osobe, te uređaj sadrži:
(a) sekvencer konfiguriran za (i) primanje DNK ekstrahirane iz uzorka tjelesne tekućine koja sadrži DNK genoma majke i genoma fetusa, i (ii) sekvenciranje ekstrahirane DNK pod uvjetima koji proizvode segmente sekvence DNK koje sadrže jedan ili više označenih polimorfizama; i
(b) računalni uređaj konfiguriran da daje upute jednom ili više procesora za poravnavanje ili na drugi način mapiranje sekvenci nukleinske kiseline na jedan ili više označenih polimorfizama na referentnoj sekvenci,
određivanje frekvencije alela mapiranih segmenata sekvenci DNK za najmanje jedan od označenih polimorfizama,
klasificiranje najmanje jednog označenog polimorfizma na temelju kombinacije zigotnosti trudnice i zigotnosti fetusa, i
procjenjivanje udjela fetalne DNK u DNK dobivenoj od trudnice koristeći frekvencije alela u vezi s klasifikacijom zigotnosti; i
pri čemu je računski uređaj nadalje konfiguriran da uputi jednom ili više procesora da klasificiraju najmanje jedan naznačeni polimorfizam u jednu od sljedećih kombinacija: (i) trudnica je homozigotna i fetus je homozigotan, (ii) trudnica je homozigotna i fetus je heterozigotan, (iii) trudnica je heterozigotna i fetus je homozigotan, i (iv) trudnica je heterozigotna i fetus je heterozigotan.
12. Uređaj prema patentnom zahtjevu 11 naznačen time što
(a) dalje sadrži alat za ekstrakciju DNK iz uzorka pod uvjetima koji ekstrahiraju DNK iz genoma majke i genoma fetusa;
(b) pri čemu je računski uređaj dalje konfiguriran da daje upute jednom ili više procesora da uklone iz razmatranja bilo koji polimorfizam klasificiran u kombinaciji (i) ili kombinaciji (iv);
(c) pri čemu je računski uređaj dalje konfiguriran da daje upute jednom ili više procesora da uklone iz razmatranja bilo koji polimorfizam koji ima frekvenciju sporednog alela veću od definiranog praga;
(d) pri čemu je računski uređaj dalje konfiguriran da daje upute jednom ili više procesora da filtriraju jedan ili više označenih polimorfizama kako bi se uklonio iz razmatranja bilo koji polimorfizam koji ima frekvenciju sporednog alela manju od definiranog praga;
(e) pri čemu je računski uređaj konfiguriran da daje upute jednom ili više procesora da klasificiraju najmanje jedan označeni polimorfizam primjenom praga na frekvenciju alela;
(f) pri čemu je računski uređaj dalje konfiguriran da daje upute jednom ili više procesora da klasificiraju najmanje jedan označeni polimorfizam primjenom podataka o frekvenciji alela, dobivenih za mnoštvo polimorfizama, na mješoviti model, po izboru pri čemu miješani mješoviti model koristi faktorske momente;
(g) pri čemu dalje sadrži uređaj za ekstrakciju DNK bez stanica dobivene iz plazme trudnice za sekvenciranje u sekvenceru;
(h) pri čemu dalje sadrži bazu podataka polimorfizama, pri čemu je računski uređaj dalje konfiguriran da daje upute jednom ili više procesora da mapiraju segmente DNK dobivene iz krvi pojedinca koji nosi fetus računalnim mapiranjem navedenih segmenata u bazu podataka polimorfizama; ili
(i) pri čemu je računski uređaj nadalje konfiguriran da daje upute jednom ili više procesora da automatski zabilježe udio fetalne DNK u medicinskom zapisu pacijenta, pohranjenom na računalno čitljivom mediju, za trudnu osobu, po izboru pri čemu navedeni medicinski zapis pacijenta održavaju laboratorij, liječnički ured, bolnica, organizacija za održavanje zdravlja, osiguravajuće društvo, ili web-mjesto osobnog medicinskog zapisa.
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161474362P | 2011-04-12 | 2011-04-12 | |
| EP19178858.7A EP3567124B1 (en) | 2011-04-12 | 2012-04-12 | Resolving genome fractions using polymorphism counts |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HRP20220296T1 true HRP20220296T1 (hr) | 2022-05-13 |
Family
ID=46001809
Family Applications (3)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HRP20220296TT HRP20220296T1 (hr) | 2011-04-12 | 2012-04-12 | Razrješavanje frakcija genoma pomoću brojanja polimorfizma |
| HRP20181770TT HRP20181770T1 (hr) | 2011-04-12 | 2018-10-26 | Rješavanje genomskih frakcija upotrebom broja kopija polimorfizama |
| HRP20201249TT HRP20201249T1 (hr) | 2011-04-12 | 2020-08-10 | Razrješavanje genomskih frakcija upotrebom broja kopija polimorfizama |
Family Applications After (2)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HRP20181770TT HRP20181770T1 (hr) | 2011-04-12 | 2018-10-26 | Rješavanje genomskih frakcija upotrebom broja kopija polimorfizama |
| HRP20201249TT HRP20201249T1 (hr) | 2011-04-12 | 2020-08-10 | Razrješavanje genomskih frakcija upotrebom broja kopija polimorfizama |
Country Status (20)
| Country | Link |
|---|---|
| US (3) | US9447453B2 (hr) |
| EP (5) | EP4039820A1 (hr) |
| JP (3) | JP5863946B2 (hr) |
| CN (2) | CN103797129B (hr) |
| AU (1) | AU2012242698C1 (hr) |
| CA (1) | CA2832468C (hr) |
| CY (4) | CY1117574T1 (hr) |
| DK (4) | DK3078752T3 (hr) |
| ES (4) | ES2907069T3 (hr) |
| HK (1) | HK1195103A1 (hr) |
| HR (3) | HRP20220296T1 (hr) |
| HU (3) | HUE050032T2 (hr) |
| IL (1) | IL228843A (hr) |
| LT (3) | LT3078752T (hr) |
| PL (4) | PL3078752T3 (hr) |
| PT (3) | PT3078752T (hr) |
| RS (3) | RS57837B1 (hr) |
| SI (3) | SI3567124T1 (hr) |
| TR (1) | TR201816062T4 (hr) |
| WO (1) | WO2012142334A2 (hr) |
Families Citing this family (107)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10083273B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9424392B2 (en) | 2005-11-26 | 2016-08-23 | Natera, Inc. | System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals |
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| AU2009279734A1 (en) | 2008-08-04 | 2010-02-11 | Natera, Inc. | Methods for allele calling and ploidy calling |
| WO2011041485A1 (en) | 2009-09-30 | 2011-04-07 | Gene Security Network, Inc. | Methods for non-invasive prenatal ploidy calling |
| EP2848704B1 (en) | 2010-01-19 | 2018-08-29 | Verinata Health, Inc | Sequencing methods for prenatal diagnoses |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| AU2011207561B2 (en) | 2010-01-19 | 2014-02-20 | Verinata Health, Inc. | Partition defined detection methods |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| US20120100548A1 (en) | 2010-10-26 | 2012-04-26 | Verinata Health, Inc. | Method for determining copy number variations |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| 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 |
| US11339429B2 (en) | 2010-05-18 | 2022-05-24 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| EP2572003A4 (en) | 2010-05-18 | 2016-01-13 | Natera Inc | METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | 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 |
| US11332785B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | 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 |
| 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 |
| US11031095B2 (en) | 2010-08-06 | 2021-06-08 | Ariosa Diagnostics, Inc. | Assay systems for determination of fetal copy number variation |
| US20130040375A1 (en) | 2011-08-08 | 2013-02-14 | Tandem Diagnotics, Inc. | Assay systems for genetic analysis |
| 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 |
| US20130261003A1 (en) | 2010-08-06 | 2013-10-03 | Ariosa Diagnostics, In. | Ligation-based detection of genetic variants |
| US8700338B2 (en) | 2011-01-25 | 2014-04-15 | Ariosa Diagnosis, Inc. | Risk calculation for evaluation of fetal aneuploidy |
| US20140342940A1 (en) | 2011-01-25 | 2014-11-20 | Ariosa Diagnostics, Inc. | Detection of Target Nucleic Acids using Hybridization |
| CA2821906C (en) | 2010-12-22 | 2020-08-25 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy 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 |
| US9994897B2 (en) | 2013-03-08 | 2018-06-12 | Ariosa Diagnostics, Inc. | Non-invasive fetal sex determination |
| BR112013020220B1 (pt) | 2011-02-09 | 2020-03-17 | Natera, Inc. | Método para determinar o estado de ploidia de um cromossomo em um feto em gestação |
| EP2678451B1 (en) | 2011-02-24 | 2017-04-26 | The Chinese University Of Hong Kong | Molecular testing of multiple pregnancies |
| CN103797129B (zh) | 2011-04-12 | 2016-08-17 | 维里纳塔健康公司 | 使用多态计数来解析基因组分数 |
| US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US8712697B2 (en) | 2011-09-07 | 2014-04-29 | Ariosa Diagnostics, Inc. | Determination of copy number variations using binomial probability calculations |
| DK2768978T3 (en) | 2011-10-18 | 2017-12-18 | Multiplicom Nv | Fetal CHROMOSOMAL ANEUPLOIDID DIAGNOSIS |
| US10289800B2 (en) | 2012-05-21 | 2019-05-14 | Ariosa Diagnostics, Inc. | Processes for calculating phased fetal genomic sequences |
| AU2013292287A1 (en) | 2012-07-19 | 2015-02-19 | Ariosa Diagnostics, Inc. | Multiplexed sequential ligation-based detection of genetic variants |
| AU2013204615A1 (en) | 2012-07-20 | 2014-02-06 | Verinata Health, Inc. | Detecting and classifying copy number variation in a fetal genome |
| US20140100126A1 (en) | 2012-08-17 | 2014-04-10 | Natera, Inc. | Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data |
| 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 |
| GB201304810D0 (en) * | 2013-03-15 | 2013-05-01 | Isis Innovation | Assay |
| EP3421613B1 (en) | 2013-03-15 | 2020-08-19 | The Board of Trustees of the Leland Stanford Junior University | Identification and use of circulating nucleic acid tumor markers |
| KR102540202B1 (ko) | 2013-05-24 | 2023-06-02 | 시쿼넘, 인코포레이티드 | 유전적 변이의 비침습 평가를 위한 방법 및 프로세스 |
| WO2015026967A1 (en) * | 2013-08-20 | 2015-02-26 | Natera, Inc. | Methods of using low fetal fraction detection |
| US20170132364A1 (en) * | 2013-09-03 | 2017-05-11 | Welgene Biotech Co., Ltd. | Non-invasive prenatal testing method based on genome-wide normalized score |
| WO2015048535A1 (en) | 2013-09-27 | 2015-04-02 | Natera, Inc. | Prenatal diagnostic resting standards |
| US10262755B2 (en) | 2014-04-21 | 2019-04-16 | Natera, Inc. | Detecting cancer mutations and aneuploidy in chromosomal segments |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| WO2015042649A1 (en) * | 2013-09-27 | 2015-04-02 | Murdoch Children's Research Institute | A quantitative assay for target dna in a mixed sample comprising target and non-target dna |
| RU2543155C1 (ru) * | 2014-02-03 | 2015-02-27 | Закрытое акционерное общество "Геноаналитика" | Способ неинвазивной диагностики анеуплоидий плода методом секвенирования |
| WO2015148776A1 (en) * | 2014-03-27 | 2015-10-01 | The Scripps Research Institute | Systems and methods for genomic annotation and distributed variant interpretation |
| AU2015249846B2 (en) | 2014-04-21 | 2021-07-22 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| WO2016019042A1 (en) | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| JP7441584B6 (ja) * | 2014-08-22 | 2024-03-15 | レゾリューション バイオサイエンス， インコーポレイテッド | 無細胞ＤＮＡ（ｃｆＤＮＡ）の定量的遺伝子解析のための方法 |
| US10006910B2 (en) | 2014-12-18 | 2018-06-26 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same |
| US10020300B2 (en) | 2014-12-18 | 2018-07-10 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US9859394B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| US9857328B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same |
| WO2016100049A1 (en) | 2014-12-18 | 2016-06-23 | Edico Genome Corporation | Chemically-sensitive field effect transistor |
| US9618474B2 (en) | 2014-12-18 | 2017-04-11 | Edico Genome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
| EP4428863A2 (en) | 2015-05-11 | 2024-09-11 | Natera, Inc. | Methods and compositions for determining ploidy |
| JP2018517421A (ja) * | 2015-06-15 | 2018-07-05 | マードック チルドレンズ リサーチ インスティチュート | キメリズムを測定する方法 |
| BE1023274A9 (nl) * | 2015-07-17 | 2017-03-17 | Multiplicom Nv | Schattingswerkwijze en -systeem voor het schatten van een foetale fractie |
| TWI767888B (zh) * | 2015-09-22 | 2022-06-21 | 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 |
| BE1022771B1 (nl) * | 2015-10-14 | 2016-08-31 | Multiplicom Nv | Werkwijze en systeem om te bepalen of een vrouw zwanger is op basis van een bloedstaal |
| ES2856598T3 (es) | 2015-11-11 | 2021-09-27 | Resolution Bioscience Inc | Construcción de alta eficiencia de bibliotecas de ADN |
| EP3433373B1 (en) | 2016-03-22 | 2022-01-12 | Myriad Women's Health, Inc. | Combinatorial dna screening |
| WO2017201081A1 (en) | 2016-05-16 | 2017-11-23 | Agilome, Inc. | Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids |
| RU2019108294A (ru) | 2016-08-25 | 2020-09-25 | Резолюшн Байосайенс, Инк. | Способы обнаружения изменений количества геномных копий в образцах днк |
| EP3518974A4 (en) | 2016-09-29 | 2020-05-27 | Myriad Women's Health, Inc. | NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION |
| US11485996B2 (en) | 2016-10-04 | 2022-11-01 | Natera, Inc. | Methods for characterizing copy number variation using proximity-litigation sequencing |
| WO2018090991A1 (en) * | 2016-11-18 | 2018-05-24 | The Chinese University Of Hong Kong | Universal haplotype-based noninvasive prenatal testing for single gene diseases |
| US10011870B2 (en) | 2016-12-07 | 2018-07-03 | Natera, Inc. | Compositions and methods for identifying nucleic acid molecules |
| GB2559319B (en) | 2016-12-23 | 2019-01-16 | Cs Genetics Ltd | Reagents and methods for the analysis of linked nucleic acids |
| US11694768B2 (en) | 2017-01-24 | 2023-07-04 | Sequenom, Inc. | Methods and processes for assessment of genetic variations |
| RU2636618C1 (ru) * | 2017-02-14 | 2017-11-24 | Федеральное государственное бюджетное учреждение "Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова" Министерства здравоохранения Российской Федерации | Способ и тест-система для определения доли плодовой ДНК в плазме крови беременной женщины с помощью методов высокопроизводительного секвенирования |
| US12006533B2 (en) * | 2017-02-17 | 2024-06-11 | Grail, Llc | Detecting cross-contamination in sequencing data using regression techniques |
| CA3049139A1 (en) | 2017-02-21 | 2018-08-30 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| 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 |
| KR102145417B1 (ko) * | 2017-05-24 | 2020-08-19 | 지니너스 주식회사 | 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법 |
| SG11201911530RA (en) * | 2017-06-20 | 2020-01-30 | Illumina Inc | Methods for accurate computational decomposition of dna mixtures from contributors of unknown genotypes |
| SG11201911538YA (en) * | 2017-06-20 | 2020-01-30 | Illumina Inc | Methods and systems for decomposition and quantification of dna mixtures from multiple contributors of known or unknown genotypes |
| CN108220451B (zh) * | 2017-12-08 | 2020-10-27 | 北京科迅生物技术有限公司 | 胎儿游离核酸浓度的检测方法及试剂盒 |
| WO2019118926A1 (en) | 2017-12-14 | 2019-06-20 | Tai Diagnostics, Inc. | Assessing graft suitability for transplantation |
| EP3781714A1 (en) | 2018-04-14 | 2021-02-24 | Natera, Inc. | Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna |
| GB201810571D0 (en) | 2018-06-27 | 2018-08-15 | Cs Genetics Ltd | Reagents and methods for the analysis of circulating microparticles |
| US11525159B2 (en) | 2018-07-03 | 2022-12-13 | Natera, Inc. | Methods for detection of donor-derived cell-free DNA |
| ES2738176B2 (es) * | 2018-07-20 | 2021-01-11 | Bioarray S L | Metodo para el estudio de mutaciones en embriones en procesos de reproduccion in vitro |
| CN109378037B (zh) * | 2018-10-31 | 2023-04-14 | 中国石油大学(华东) | 基于遗传学规律的等位基因准确推断方法 |
| US20200381079A1 (en) * | 2019-06-03 | 2020-12-03 | Illumina, Inc. | Methods for determining sub-genic copy numbers of a target gene with close homologs using beadarray |
| GB201909325D0 (en) | 2019-06-28 | 2019-08-14 | Cs Genetics Ltd | Reagents and methods for analysis for microparticles |
| CN110438220A (zh) * | 2019-08-16 | 2019-11-12 | 深圳市人民医院 | 纤毛不动综合症基因面板试剂盒及其应用 |
| US11946104B2 (en) | 2020-07-07 | 2024-04-02 | Billiontoone, Inc. | Non-invasive prenatal testing at early stage of pregnancy |
| CN113345515B (zh) * | 2021-06-17 | 2024-05-31 | 苏州贝康医疗器械有限公司 | 新发平衡易位家系中胚胎遗传性检测方法及装置 |
| CN113667734B (zh) * | 2021-07-16 | 2022-05-24 | 四川大学华西医院 | Shank3片段序列甲基化检测试剂在制备精神分裂症诊断试剂盒中的用途 |
| CN118076750A (zh) | 2021-08-02 | 2024-05-24 | 纳特拉公司 | 用于检测孕妇体内的赘生物的方法 |
| CA3223315A1 (en) | 2022-02-16 | 2023-08-24 | Michael Mehan | Minimizing fetal fraction bias in maternal polygenic risk score estimation |
Family Cites Families (88)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US6270961B1 (en) | 1987-04-01 | 2001-08-07 | Hyseq, Inc. | Methods and apparatus for DNA sequencing and DNA identification |
| US5856097A (en) | 1992-03-04 | 1999-01-05 | The Regents Of The University Of California | Comparative genomic hybridization (CGH) |
| WO1994003638A1 (en) | 1992-07-30 | 1994-02-17 | Applied Biosystems, Inc. | Method of detecting aneuploidy by amplified short tandem repeats |
| US5776737A (en) | 1994-12-22 | 1998-07-07 | Visible Genetics Inc. | Method and composition for internal identification of samples |
| US6057103A (en) | 1995-07-18 | 2000-05-02 | Diversa Corporation | Screening for novel bioactivities |
| WO1998014275A1 (en) | 1996-10-04 | 1998-04-09 | Intronn Llc | Sample collection devices and methods using markers and the use of such markers as controls in sample validation, laboratory evaluation and/or accreditation |
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| AU6846698A (en) | 1997-04-01 | 1998-10-22 | Glaxo Group Limited | Method of nucleic acid amplification |
| AR021833A1 (es) | 1998-09-30 | 2002-08-07 | Applied Research Systems | Metodos de amplificacion y secuenciacion de acido nucleico |
| US6440706B1 (en) | 1999-08-02 | 2002-08-27 | Johns Hopkins University | Digital amplification |
| US20020142324A1 (en) | 2000-09-22 | 2002-10-03 | Xun Wang | Fungal target genes and methods to identify those genes |
| US6691042B2 (en) | 2001-07-02 | 2004-02-10 | Rosetta Inpharmatics Llc | Methods for generating differential profiles by combining data obtained in separate measurements |
| US7226732B2 (en) | 2001-07-16 | 2007-06-05 | Cepheid | Methods, apparatus, and computer programs for verifying the integrity of a probe |
| 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 |
| US7893248B2 (en) | 2002-02-20 | 2011-02-22 | Sirna Therapeutics, Inc. | RNA interference mediated inhibition of Myc and/or Myb gene expression using short interfering nucleic acid (siNA) |
| IL163600A0 (en) | 2002-03-01 | 2005-12-18 | Ravgen Inc | Methods for detection of genetic disorders |
| US6977162B2 (en) * | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| US20030194704A1 (en) | 2002-04-03 | 2003-10-16 | Penn Sharron Gaynor | Human genome-derived single exon nucleic acid probes useful for gene expression analysis two |
| US7727720B2 (en) * | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| JP2006501449A (ja) | 2002-09-27 | 2006-01-12 | ザ ジェネラル ホスピタル コーポレーション | 細胞分離のためのマイクロ流体デバイスおよびその使用 |
| US10229244B2 (en) | 2002-11-11 | 2019-03-12 | Affymetrix, Inc. | Methods for identifying DNA copy number changes using hidden markov model based estimations |
| DE602004021902D1 (de) | 2003-01-17 | 2009-08-20 | Univ Boston | Haplotypanalyse |
| US8394582B2 (en) | 2003-03-05 | 2013-03-12 | Genetic Technologies, Inc | Identification of fetal DNA and fetal cell markers in maternal plasma or serum |
| WO2004081183A2 (en) | 2003-03-07 | 2004-09-23 | Rubicon Genomics, Inc. | In vitro dna immortalization and whole genome amplification using libraries generated from randomly fragmented dna |
| EP2354253A3 (en) | 2003-09-05 | 2011-11-16 | Trustees of Boston University | Method for non-invasive prenatal diagnosis |
| US20050221341A1 (en) | 2003-10-22 | 2005-10-06 | Shimkets Richard A | Sequence-based karyotyping |
| US20050114205A1 (en) * | 2003-11-21 | 2005-05-26 | Kenneth Nelson | Multi-media digital cartridge storage and playback units |
| WO2005072133A2 (en) | 2004-01-27 | 2005-08-11 | Zoragen, Inc. | Nucleic acid detection |
| US20060046258A1 (en) | 2004-02-27 | 2006-03-02 | Lapidus Stanley N | Applications of single molecule sequencing |
| US20100216153A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| US20100216151A1 (en) | 2004-02-27 | 2010-08-26 | Helicos Biosciences Corporation | Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities |
| WO2005116257A2 (en) | 2004-05-17 | 2005-12-08 | The Ohio State University Research Foundation | Unique short tandem repeats and methods of their use |
| DE102004036285A1 (de) | 2004-07-27 | 2006-02-16 | Advalytix Ag | Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe |
| TW200624106A (en) | 2004-09-07 | 2006-07-16 | Uni Charm Corp | Warming article |
| JP2007327743A (ja) | 2004-09-07 | 2007-12-20 | Univ Of Tokyo | 遺伝子コピーの解析方法及び装置 |
| US20060286566A1 (en) * | 2005-02-03 | 2006-12-21 | Helicos Biosciences Corporation | Detecting apparent mutations in nucleic acid sequences |
| US20060178835A1 (en) | 2005-02-10 | 2006-08-10 | Applera Corporation | Normalization methods for genotyping analysis |
| TWI367259B (en) | 2005-03-18 | 2012-07-01 | Univ Hong Kong Chinese | A method for the detection of chromosomal aneuploidies |
| WO2006131928A2 (en) | 2005-06-08 | 2006-12-14 | Compugen Ltd. | Novel nucleotide and amino acid sequences, and assays and methods of use thereof for diagnosis |
| US20060286558A1 (en) | 2005-06-15 | 2006-12-21 | Natalia Novoradovskaya | Normalization of samples for amplification reactions |
| US8532930B2 (en) | 2005-11-26 | 2013-09-10 | Natera, Inc. | Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals |
| DE102005057988A1 (de) | 2005-08-04 | 2007-02-08 | Bosch Rexroth Ag | Axialkolbenmaschine |
| ES2595373T3 (es) | 2006-02-02 | 2016-12-29 | The Board Of Trustees Of The Leland Stanford Junior University | Prueba genética no invasiva mediante análisis digital |
| US20100184043A1 (en) * | 2006-02-28 | 2010-07-22 | University Of Louisville Research Foundation | Detecting Genetic Abnormalities |
| EP2351858B1 (en) | 2006-02-28 | 2014-12-31 | University of Louisville Research Foundation | Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms |
| WO2007146106A2 (en) | 2006-06-05 | 2007-12-21 | Cryo- Cell International, Inc. | Procurement, isolation and cryopreservation of maternal placental cells |
| EP2589668A1 (en) | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
| EP2029779A4 (en) | 2006-06-14 | 2010-01-20 | Living Microsystems Inc | HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
| CN101675169B (zh) | 2006-06-14 | 2018-01-02 | 维里纳塔健康公司 | 使用样品拆分和dna标签进行稀有细胞分析 |
| US9328378B2 (en) | 2006-07-31 | 2016-05-03 | Illumina Cambridge Limited | Method of library preparation avoiding the formation of adaptor dimers |
| US8262900B2 (en) | 2006-12-14 | 2012-09-11 | Life Technologies Corporation | Methods and apparatus for measuring analytes using large scale FET arrays |
| AU2008213634B2 (en) | 2007-02-08 | 2013-09-05 | Sequenom, Inc. | Nucleic acid-based tests for RhD typing, gender determination and nucleic acid quantification |
| US20100112590A1 (en) | 2007-07-23 | 2010-05-06 | The Chinese University Of Hong Kong | Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment |
| HUE061020T2 (hu) | 2007-07-23 | 2023-05-28 | Univ Hong Kong Chinese | Nukleinsav-szekvencia kiegyensúlyozatlanságának meghatározására |
| JP2010539991A (ja) | 2007-10-04 | 2010-12-24 | ハルシオン モレキュラー | 電子顕微鏡を用いた核酸ポリマーの配列決定 |
| US8709726B2 (en) * | 2008-03-11 | 2014-04-29 | Sequenom, Inc. | Nucleic acid-based tests for prenatal gender determination |
| EP2227780A4 (en) | 2008-03-19 | 2011-08-03 | Existence Genetics Llc | GENETIC ANALYSIS |
| EP2276858A4 (en) | 2008-03-26 | 2011-10-05 | Sequenom Inc | RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION |
| US20090270601A1 (en) | 2008-04-21 | 2009-10-29 | Steven Albert Benner | Differential detection of single nucleotide polymorphisms |
| US20100068711A1 (en) | 2008-07-18 | 2010-03-18 | Xenomics, Inc. | Methods of PCR-Based Detection of "Ultra Short" Nucleic Acid Sequences |
| CA3069081C (en) | 2008-09-20 | 2023-05-23 | The Board Of Trustees Of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| WO2010115044A2 (en) | 2009-04-02 | 2010-10-07 | Fluidigm Corporation | Selective tagging of short nucleic acid fragments and selective protection of target sequences from degradation |
| ES2564656T3 (es) | 2009-10-26 | 2016-03-28 | Lifecodexx Ag | Medios y métodos para el diagnóstico no invasivo de la aneuploidía cromosómica |
| FI3783110T3 (fi) | 2009-11-05 | 2023-03-02 | Fetaalisen genomin analyysi maternaalisesta biologisesta näytteestä | |
| WO2011060240A1 (en) | 2009-11-12 | 2011-05-19 | Genzyme Corporation | Copy number analysis of genetic locus |
| US20120237928A1 (en) | 2010-10-26 | 2012-09-20 | Verinata Health, Inc. | Method for determining copy number variations |
| WO2011090556A1 (en) | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Methods for determining fraction of fetal nucleic acid in maternal samples |
| US9323888B2 (en) | 2010-01-19 | 2016-04-26 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US9260745B2 (en) | 2010-01-19 | 2016-02-16 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| US10388403B2 (en) | 2010-01-19 | 2019-08-20 | Verinata Health, Inc. | Analyzing copy number variation in the detection of cancer |
| EP2848704B1 (en) | 2010-01-19 | 2018-08-29 | Verinata Health, Inc | Sequencing methods for prenatal diagnoses |
| AU2011207561B2 (en) | 2010-01-19 | 2014-02-20 | Verinata Health, Inc. | Partition defined detection methods |
| US20120100548A1 (en) | 2010-10-26 | 2012-04-26 | Verinata Health, Inc. | Method for determining copy number variations |
| WO2011091046A1 (en) * | 2010-01-19 | 2011-07-28 | Verinata Health, Inc. | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| US20110312503A1 (en) | 2010-01-23 | 2011-12-22 | Artemis Health, Inc. | Methods of fetal abnormality detection |
| US20120238738A1 (en) | 2010-07-19 | 2012-09-20 | New England Biolabs, Inc. | Oligonucleotide Adapters: Compositions and Methods of Use |
| US20120034603A1 (en) | 2010-08-06 | 2012-02-09 | Tandem Diagnostics, Inc. | Ligation-based detection of genetic variants |
| EP2646579B1 (en) | 2010-11-30 | 2017-06-14 | The Chinese University Of Hong Kong | Detection of genetic or molecular aberrations associated with cancer |
| CN103620055A (zh) * | 2010-12-07 | 2014-03-05 | 利兰·斯坦福青年大学托管委员会 | 在全基因组规模非侵入性确定亲本单倍型的胎儿遗传 |
| WO2012088348A2 (en) | 2010-12-23 | 2012-06-28 | Sequenom, Inc. | Fetal genetic variation detection |
| US20120190021A1 (en) * | 2011-01-25 | 2012-07-26 | Aria Diagnostics, Inc. | Detection of genetic abnormalities |
| BR112013020220B1 (pt) * | 2011-02-09 | 2020-03-17 | Natera, Inc. | Método para determinar o estado de ploidia de um cromossomo em um feto em gestação |
| CN103797129B (zh) | 2011-04-12 | 2016-08-17 | 维里纳塔健康公司 | 使用多态计数来解析基因组分数 |
| GB2484764B (en) | 2011-04-14 | 2012-09-05 | Verinata Health Inc | Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies |
| US9411937B2 (en) | 2011-04-15 | 2016-08-09 | Verinata Health, Inc. | Detecting and classifying copy number variation |
| CN103003447B (zh) | 2011-07-26 | 2020-08-25 | 维里纳塔健康公司 | 用于确定样品中存在或不存在不同非整倍性的方法 |
-
2012
- 2012-04-12 CN CN201280028976.9A patent/CN103797129B/zh active Active
- 2012-04-12 TR TR2018/16062T patent/TR201816062T4/tr unknown
- 2012-04-12 SI SI201231986T patent/SI3567124T1/sl unknown
- 2012-04-12 DK DK16158103.8T patent/DK3078752T3/en active
- 2012-04-12 WO PCT/US2012/033391 patent/WO2012142334A2/en active Application Filing
- 2012-04-12 DK DK18186518.9T patent/DK3456844T3/da active
- 2012-04-12 HR HRP20220296TT patent/HRP20220296T1/hr unknown
- 2012-04-12 JP JP2014505313A patent/JP5863946B2/ja active Active
- 2012-04-12 DK DK19178858.7T patent/DK3567124T3/da active
- 2012-04-12 PT PT16158103T patent/PT3078752T/pt unknown
- 2012-04-12 LT LTEP16158103.8T patent/LT3078752T/lt unknown
- 2012-04-12 LT LTEP19178858.7T patent/LT3567124T/lt unknown
- 2012-04-12 RS RS20181302A patent/RS57837B1/sr unknown
- 2012-04-12 DK DK12716939.9T patent/DK2697392T3/en active
- 2012-04-12 CA CA2832468A patent/CA2832468C/en active Active
- 2012-04-12 PL PL16158103T patent/PL3078752T3/pl unknown
- 2012-04-12 EP EP21213624.6A patent/EP4039820A1/en active Pending
- 2012-04-12 US US13/445,778 patent/US9447453B2/en active Active
- 2012-04-12 ES ES19178858T patent/ES2907069T3/es active Active
- 2012-04-12 PL PL18186518T patent/PL3456844T3/pl unknown
- 2012-04-12 EP EP16158103.8A patent/EP3078752B1/en not_active Revoked
- 2012-04-12 SI SI201231416T patent/SI3078752T1/sl unknown
- 2012-04-12 HU HUE18186518A patent/HUE050032T2/hu unknown
- 2012-04-12 HU HUE19178858A patent/HUE057424T2/hu unknown
- 2012-04-12 CN CN201610697158.8A patent/CN106319047B/zh active Active
- 2012-04-12 AU AU2012242698A patent/AU2012242698C1/en not_active Ceased
- 2012-04-12 SI SI201231813T patent/SI3456844T1/sl unknown
- 2012-04-12 PL PL12716939T patent/PL2697392T3/pl unknown
- 2012-04-12 ES ES12716939.9T patent/ES2572912T3/es active Active
- 2012-04-12 PT PT181865189T patent/PT3456844T/pt unknown
- 2012-04-12 EP EP19178858.7A patent/EP3567124B1/en active Active
- 2012-04-12 LT LTEP18186518.9T patent/LT3456844T/lt unknown
- 2012-04-12 EP EP18186518.9A patent/EP3456844B1/en active Active
- 2012-04-12 EP EP12716939.9A patent/EP2697392B1/en active Active
- 2012-04-12 PL PL19178858T patent/PL3567124T3/pl unknown
- 2012-04-12 RS RS20200985A patent/RS60710B1/sr unknown
- 2012-04-12 HU HUE16158103A patent/HUE041411T2/hu unknown
- 2012-04-12 RS RS20220224A patent/RS63008B1/sr unknown
- 2012-04-12 PT PT191788587T patent/PT3567124T/pt unknown
- 2012-04-12 ES ES18186518T patent/ES2806728T3/es active Active
- 2012-04-12 ES ES16158103.8T patent/ES2692333T3/es active Active
-
2013
- 2013-10-13 IL IL228843A patent/IL228843A/en active IP Right Grant
-
2014
- 2014-08-18 HK HK14108407.4A patent/HK1195103A1/zh unknown
-
2015
- 2015-12-22 JP JP2015249239A patent/JP6268153B2/ja active Active
-
2016
- 2016-05-30 CY CY20161100473T patent/CY1117574T1/el unknown
- 2016-08-11 US US15/234,966 patent/US10658070B2/en active Active
-
2017
- 2017-12-25 JP JP2017247208A patent/JP6760917B2/ja active Active
-
2018
- 2018-10-26 HR HRP20181770TT patent/HRP20181770T1/hr unknown
- 2018-10-30 CY CY181101123T patent/CY1120851T1/el unknown
-
2020
- 2020-04-20 US US16/853,347 patent/US20200251180A1/en active Pending
- 2020-08-10 HR HRP20201249TT patent/HRP20201249T1/hr unknown
- 2020-08-27 CY CY20201100805T patent/CY1123287T1/el unknown
-
2022
- 2022-03-09 CY CY20221100193T patent/CY1125362T1/el unknown
Also Published As
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| HRP20220296T1 (hr) | Razrješavanje frakcija genoma pomoću brojanja polimorfizma | |
| JP2014512817A5 (hr) | ||
| CN106795562B (zh) | Dna混合物中的组织甲基化模式分析 | |
| JP6392904B2 (ja) | Ｄｎａのサイズに基づく解析 | |
| JP7022188B2 (ja) | 無細胞核酸の多重解像度分析のための方法 | |
| RU2589681C2 (ru) | Неинвазивное обнаружение генетической аномалии плода | |
| JP6328934B2 (ja) | 非侵襲性出生前親子鑑定法 | |
| CN108026572A (zh) | 游离dna的片段化模式的分析 | |
| CN110100013A (zh) | 用于肿瘤检测的方法和系统 | |
| TWI641834B (zh) | 藉由大量平行ｒｎａ定序之母體血漿轉錄體分析 | |
| CN107077537A (zh) | 用短读测序数据检测重复扩增 | |
| TW201700732A (zh) | 偵測突變以用於癌症篩選及胎兒分析 | |
| JP2016101168A5 (hr) | ||
| EA028642B1 (ru) | Способ пренатальной диагностики фетальной хромосомной анэуплоидии | |
| CN104334742A (zh) | 解析和定量无细胞rna的方法 | |
| CN102876793B (zh) | 单核苷酸多态性rs2058660在检测麻风病易感基因中的应用 | |
| CN113227401B (zh) | 来自克隆性造血的无细胞dna突变的片段大小表征 | |
| CN102876794A (zh) | 单核苷酸多态性rs6871626在检测麻风病易感基因中的应用 | |
| TW202012639A (zh) | 使用病原體核酸負荷確定個體是否患有癌症病況的系統及方法 | |
| EP3023504B1 (en) | Method and device for detecting chromosomal aneuploidy | |
| CN104093858A (zh) | 确定生物样本中染色体数目异常的方法、系统和计算机可读介质 | |
| EP3374521B1 (en) | Methods for determining the origin of dna molecules | |
| US20200255905A1 (en) | Diagnosis of cancer or other physiological condition using circulating nucleic acid fragment sentinel endpoints | |
| Sun et al. | The impact of digital DNA counting technologies on noninvasive prenatal testing | |
| JP2022527316A (ja) | ウィルスに関連した癌のリスクの層別化 |