HRP20230134T1 - Analiza genoma fetusa iz biološkog uzorka majke - Google Patents

Analiza genoma fetusa iz biološkog uzorka majke Download PDF

Info

Publication number
HRP20230134T1
HRP20230134T1 HRP20230134TT HRP20230134T HRP20230134T1 HR P20230134 T1 HRP20230134 T1 HR P20230134T1 HR P20230134T T HRP20230134T T HR P20230134TT HR P20230134 T HRP20230134 T HR P20230134T HR P20230134 T1 HRP20230134 T1 HR P20230134T1
Authority
HR
Croatia
Prior art keywords
nucleic acid
loci
genome
allele
acid molecules
Prior art date
Application number
HRP20230134TT
Other languages
English (en)
Croatian (hr)
Inventor
Yuk Ming Dennis Lo
Kwan Chee Chan
Wai Kwun Rossa Chiu
Charles Cantor
Original Assignee
The Chinese University Of Hong Kong
Sequenom, Inc.
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by The Chinese University Of Hong Kong, Sequenom, Inc. filed Critical The Chinese University Of Hong Kong
Publication of HRP20230134T1 publication Critical patent/HRP20230134T1/hr

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/154—Methylation markers
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10T—TECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
    • Y10T436/00—Chemistry: analytical and immunological testing
    • Y10T436/14—Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222—Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333—Saccharide [e.g., DNA, etc.]

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Medical Informatics (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Evolutionary Computation (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Epidemiology (AREA)
  • Artificial Intelligence (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Ultra Sonic Daignosis Equipment (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
HRP20230134TT 2009-11-05 2010-11-05 Analiza genoma fetusa iz biološkog uzorka majke HRP20230134T1 (hr)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US25856709P 2009-11-05 2009-11-05
US25907509P 2009-11-06 2009-11-06
US38185410P 2010-09-10 2010-09-10
EP20200970.0A EP3783110B1 (en) 2009-11-05 2010-11-05 Fetal genomic analysis from a maternal biological sample

Publications (1)

Publication Number Publication Date
HRP20230134T1 true HRP20230134T1 (hr) 2023-03-31

Family

ID=43500337

Family Applications (2)

Application Number Title Priority Date Filing Date
HRP20230134TT HRP20230134T1 (hr) 2009-11-05 2010-11-05 Analiza genoma fetusa iz biološkog uzorka majke
HRP20190601TT HRP20190601T1 (hr) 2009-11-05 2019-03-28 Genomska analiza fetusa iz majčinskog biološkog uzorka

Family Applications After (1)

Application Number Title Priority Date Filing Date
HRP20190601TT HRP20190601T1 (hr) 2009-11-05 2019-03-28 Genomska analiza fetusa iz majčinskog biološkog uzorka

Country Status (24)

Country Link
US (5) US8467976B2 (enExample)
EP (5) EP2496717B1 (enExample)
JP (3) JP5540105B2 (enExample)
CN (2) CN102770558B (enExample)
AU (1) AU2010315037B9 (enExample)
BR (1) BR112012010694B8 (enExample)
CA (1) CA2779695C (enExample)
CY (1) CY1122003T1 (enExample)
DK (3) DK2496717T3 (enExample)
EA (1) EA033752B1 (enExample)
ES (3) ES2720282T3 (enExample)
FI (1) FI3783110T3 (enExample)
HR (2) HRP20230134T1 (enExample)
HU (3) HUE061110T2 (enExample)
IL (3) IL219521A (enExample)
LT (2) LT3241914T (enExample)
MX (3) MX2012005214A (enExample)
PL (3) PL3783110T3 (enExample)
PT (3) PT3783110T (enExample)
RS (2) RS63944B1 (enExample)
SI (2) SI3783110T1 (enExample)
SM (2) SMT202300034T1 (enExample)
TW (1) TWI458976B (enExample)
WO (1) WO2011057094A1 (enExample)

Families Citing this family (218)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
SI1996728T1 (sl) 2006-02-28 2011-10-28 Univ Louisville Res Found Prepoznavanje kromosomskih nenormalnosti pri zarodku s pomočjo dvojnih mononukleotidnih polimorfizmov
US8609338B2 (en) 2006-02-28 2013-12-17 University Of Louisville Research Foundation, Inc. Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
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
US20110033862A1 (en) * 2008-02-19 2011-02-10 Gene Security Network, Inc. Methods for cell genotyping
WO2009114543A2 (en) * 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20110092763A1 (en) * 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
CN104732118B (zh) 2008-08-04 2017-08-22 纳特拉公司 等位基因调用和倍性调用的方法
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
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
US20110159499A1 (en) * 2009-11-25 2011-06-30 Quantalife, Inc. Methods and compositions for detecting genetic material
US9524369B2 (en) 2009-06-15 2016-12-20 Complete Genomics, Inc. Processing and analysis of complex nucleic acid sequence data
ES2640776T3 (es) 2009-09-30 2017-11-06 Natera, Inc. Métodos para denominar de forma no invasiva ploidía prenatal
LT3241914T (lt) 2009-11-05 2019-04-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
DK2516680T3 (en) 2009-12-22 2016-05-02 Sequenom Inc Method and kits to identify aneuploidy
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
US8700341B2 (en) 2010-01-19 2014-04-15 Verinata Health, Inc. Partition defined detection methods
ES2704701T3 (es) 2010-01-19 2019-03-19 Verinata Health Inc Nuevo protocolo de preparación de bibliotecas de secuenciación
AU2011207544A1 (en) 2010-01-19 2012-09-06 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
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
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
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
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20240158855A1 (en) 2010-05-18 2024-05-16 Natera, Inc. Methods for simultaneous amplification of target loci
US12655483B2 (en) 2010-05-18 2026-06-16 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
EP2854058A3 (en) 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
US12221653B2 (en) 2010-05-18 2025-02-11 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
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US12545960B2 (en) 2010-05-18 2026-02-10 Natera, Inc. Methods for simultaneous amplification of target loci
EP2596127A2 (en) * 2010-07-23 2013-05-29 Esoterix Genetic Laboratories, LLC Identification of differentially represented fetal or maternal genomic regions and uses thereof
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
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
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10167508B2 (en) 2010-08-06 2019-01-01 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US11203786B2 (en) 2010-08-06 2021-12-21 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
KR102040307B1 (ko) 2010-11-30 2019-11-27 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
US8877442B2 (en) 2010-12-07 2014-11-04 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
US10131947B2 (en) 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
US9994897B2 (en) 2013-03-08 2018-06-12 Ariosa Diagnostics, Inc. Non-invasive fetal sex determination
US20120190021A1 (en) * 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US8756020B2 (en) * 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
EP3483285B1 (en) 2011-02-09 2021-07-14 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
JP6153874B2 (ja) 2011-02-09 2017-06-28 ナテラ， インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
EP3202921B1 (en) 2011-02-24 2019-02-13 The Chinese University of Hong Kong Molecular testing of multiple pregnancies
ES2572912T3 (es) * 2011-04-12 2016-06-03 Verinata Health, Inc Resolución de fracciones de genoma mediante recuento de polimorfismos
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
WO2013028739A1 (en) * 2011-08-25 2013-02-28 Complete Genomics Phasing of heterozygous loci to determine genomic haplotypes
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
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
EP2764458B1 (en) 2011-10-06 2021-04-07 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013052913A2 (en) 2011-10-06 2013-04-11 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
ES2929923T3 (es) 2012-01-20 2022-12-02 Sequenom Inc Procesos de diagnóstico que condicionan las condiciones experimentales
US9238836B2 (en) * 2012-03-30 2016-01-19 Pacific Biosciences Of California, Inc. Methods and compositions for sequencing modified nucleic acids
WO2013130848A1 (en) * 2012-02-29 2013-09-06 Natera, Inc. Informatics enhanced analysis of fetal samples subject to maternal contamination
EP4155401A1 (en) * 2012-03-02 2023-03-29 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
AU2013232123B2 (en) 2012-03-13 2014-10-30 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
JP6045686B2 (ja) * 2012-05-14 2016-12-14 ビージーアイ ダイアグノーシス カンパニー リミテッドＢｇｉ Ｄｉａｇｎｏｓｉｓ Ｃｏ．， Ｌｔｄ． 胎児ゲノムにおける所定領域の塩基情報を確定する方法、システム及びコンピューター読み取り可能な記録媒体
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
WO2013177581A2 (en) * 2012-05-24 2013-11-28 University Of Washington Through Its Center For Commercialization Whole genome sequencing of a human fetus
US11261494B2 (en) 2012-06-21 2022-03-01 The Chinese University Of Hong Kong Method of measuring a fractional concentration of tumor DNA
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
CN110777195A (zh) * 2012-07-13 2020-02-11 生命技术公司 采用一组snp的人身份识别
CN104583421A (zh) 2012-07-19 2015-04-29 阿瑞奥萨诊断公司 遗传变体的基于多重的顺序连接的检测
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US20140065621A1 (en) * 2012-09-04 2014-03-06 Natera, Inc. Methods for increasing fetal fraction in maternal blood
AU2013312355A1 (en) * 2012-09-06 2014-09-18 Ancestry.Com Dna, Llc Using haplotypes to infer ancestral origins for recently admixed individuals
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
HUE053822T2 (hu) * 2012-09-20 2021-07-28 Univ Hong Kong Chinese Nem invazív módszer daganat metilom meghatározása plazmából
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
US10482994B2 (en) * 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9213944B1 (en) * 2012-11-08 2015-12-15 23Andme, Inc. Trio-based phasing using a dynamic Bayesian network
US9213947B1 (en) 2012-11-08 2015-12-15 23Andme, Inc. Scalable pipeline for local ancestry inference
US10643738B2 (en) 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
CN105190656B (zh) 2013-01-17 2018-01-16 佩索纳里斯公司 用于遗传分析的方法和系统
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
ES2670544T3 (es) * 2013-02-28 2018-05-30 The Chinese University Of Hong Kong Análisis de transcriptoma de plasma materno por secuenciación masiva en paralelo de ARN
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
CN105121660B (zh) * 2013-03-15 2018-09-28 香港中文大学 确定多胎妊娠的胎儿基因组
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014180910A1 (en) * 2013-05-09 2014-11-13 Roche Diagnostics Gmbh Method of determining the fraction of fetal dna in maternal blood using hla markers
AU2014268377B2 (en) 2013-05-24 2020-10-08 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
US20150004601A1 (en) * 2013-06-28 2015-01-01 Ariosa Diagnostics, Inc. Massively parallel sequencing of random dna fragments for determination of fetal fraction
GB201318369D0 (en) * 2013-10-17 2013-12-04 Univ Leuven Kath Methods using BAF
GB2534067B (en) 2013-08-30 2021-07-21 Personalis Inc Methods and systems for genomic analysis
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
GB2535066A (en) 2013-10-03 2016-08-10 Personalis Inc Methods for analyzing genotypes
US10964409B2 (en) 2013-10-04 2021-03-30 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6680680B2 (ja) 2013-10-07 2020-04-15 セクエノム， インコーポレイテッド 染色体変化の非侵襲性評価のための方法およびプロセス
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
RU2717641C2 (ru) 2014-04-21 2020-03-24 Натера, Инк. Обнаружение мутаций и плоидности в хромосомных сегментах
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
AU2015289414B2 (en) 2014-07-18 2021-07-08 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
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
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
CN104182655B (zh) * 2014-09-01 2017-03-08 上海美吉生物医药科技有限公司 一种判断胎儿基因型的方法
CN104232778B (zh) * 2014-09-19 2016-08-17 天津华大基因科技有限公司 同时确定胎儿单体型及染色体非整倍性的方法及装置
US10612080B2 (en) * 2014-09-22 2020-04-07 Roche Molecular Systems, Inc. Digital PCR for non-invasive prenatal testing
US10125399B2 (en) 2014-10-30 2018-11-13 Personalis, Inc. Methods for using mosaicism in nucleic acids sampled distal to their origin
CN105648045B (zh) * 2014-11-13 2019-10-11 天津华大基因科技有限公司 确定胎儿目标区域单体型的方法和装置
CN105648044B (zh) * 2014-11-13 2019-10-11 天津华大基因科技有限公司 确定胎儿目标区域单体型的方法和装置
CN104561309B (zh) * 2015-01-04 2017-04-19 北京积水潭医院 一种来自人辅助生殖囊胚植入前进行出生安全性预测的试剂盒
CN104561311B (zh) * 2015-01-04 2016-08-17 北京大学第三医院 一种来自人辅助生殖胚胎发育早期出生安全性预测的试剂盒
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
CN107109324B (zh) * 2015-01-16 2019-11-08 深圳华大基因股份有限公司 确定胎儿核酸含量的方法和装置
DK3256605T3 (da) * 2015-02-10 2022-03-14 Univ Hong Kong Chinese Påvisning af mutationer til cancerscreening og føtal analyse
CN106021992A (zh) * 2015-03-27 2016-10-12 知源生信公司（美国硅谷） 位置相关变体识别计算流水线
EP4428863A3 (en) 2015-05-11 2024-12-11 Natera, Inc. Methods and compositions for determining ploidy
EP3298169B1 (en) 2015-05-18 2024-10-02 Karius, Inc. Compositions and methods for enriching populations of nucleic acids
US12018314B2 (en) 2015-07-02 2024-06-25 Arima Genomics, Inc. Accurate molecular deconvolution of mixture samples
WO2017012544A1 (en) * 2015-07-20 2017-01-26 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
US10453556B2 (en) 2015-07-23 2019-10-22 The Chinese University Of Hong Kong Analysis of fragmentation patterns of cell-free DNA
US11319586B2 (en) 2015-08-12 2022-05-03 The Chinese University Of Hong Kong Single-molecule sequencing of plasma DNA
MY199897A (en) * 2015-09-22 2023-11-28 Univ Hong Kong Chinese Accurate quantification of fetal dna fraction by shallow-depth sequencing of maternal plasma dna
GB201518665D0 (en) 2015-10-21 2015-12-02 Singapore Volition Pte Ltd Method for enrichment of cell free nucleosomes
CN105335625B (zh) * 2015-11-04 2018-02-16 和卓生物科技（上海）有限公司 胚胎植入前的遗传学检测装置
JP7280044B2 (ja) 2016-04-15 2023-05-23 ナテラ， インコーポレイテッド 肺癌の検出方法
CN105926043B (zh) * 2016-04-19 2018-08-28 苏州贝康医疗器械有限公司 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法
US12416047B2 (en) * 2016-05-06 2025-09-16 Myriad Women's Health, Inc. Noninvasive prenatal diagnostic methods
US11299783B2 (en) 2016-05-27 2022-04-12 Personalis, Inc. Methods and systems for genetic analysis
WO2018003220A1 (ja) * 2016-06-29 2018-01-04 トヨタ自動車株式会社 Ｄｎａライブラリーの作製方法及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
CA3037366A1 (en) 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
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
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
MY208464A (en) * 2016-11-18 2025-05-11 Univ Hong Kong Chinese 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
CA3207879C (en) 2017-01-24 2026-06-16 Sequenom, Inc. Methods and processes for assessment of genetic variations
WO2018137685A1 (en) 2017-01-25 2018-08-02 The Chinese University Of Hong Kong Diagnostic applications using nucleic acid fragments
CA3049139A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
WO2018175907A1 (en) 2017-03-24 2018-09-27 Counsyl, Inc. Copy number variant caller
CN110915165B (zh) * 2017-05-12 2023-05-26 麻省理工学院 用于共享私有数据的计算机实现的方法和装置
JP7056012B2 (ja) 2017-05-19 2022-04-19 トヨタ自動車株式会社 ランダムプライマーセット、及びこれを用いたｄｎａライブラリーの作製方法
KR102145417B1 (ko) * 2017-05-24 2020-08-19 지니너스 주식회사 무세포 핵산으로부터 수득된 서열 분석 데이터에 대한 배경 대립인자의 빈도 분포를 생성하는 방법 및 이를 이용하여 무세포 핵산으로부터 변이를 검출하는 방법
WO2019010410A1 (en) * 2017-07-07 2019-01-10 Massachusetts Institute Of Technology SYSTEMS AND METHODS OF GENETIC IDENTIFICATION AND ANALYSIS
CA3069668A1 (en) * 2017-07-12 2019-01-17 Ande Corporation Pattern recognition system
CN109280697B (zh) * 2017-07-20 2022-04-26 天昊生物医药科技（苏州）有限公司 利用孕妇血浆游离dna进行胎儿基因型鉴定的方法
WO2019020057A1 (en) 2017-07-26 2019-01-31 The Chinese University Of Hong Kong ENHANCING CANCER SCREENING WITH ACELLULAR VIRAL NUCLEIC ACIDS
US11646100B2 (en) 2017-08-04 2023-05-09 Billiontoone, Inc. Target-associated molecules for characterization associated with biological targets
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
AU2018312117B2 (en) 2017-08-04 2022-05-12 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
CN107545153B (zh) * 2017-10-25 2021-06-11 桂林电子科技大学 一种基于卷积神经网络的核小体分类预测方法
WO2019118926A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
JP7047373B2 (ja) 2017-12-25 2022-04-05 トヨタ自動車株式会社 次世代シーケンサー用プライマー並びにその製造方法、次世代シーケンサー用プライマーを用いたｄｎａライブラリー並びにその製造方法、及びｄｎａライブラリーを用いたゲノムｄｎａ解析方法
SG11202006110UA (en) 2018-01-05 2020-07-29 Billiontoone Inc Quality control templates for ensuring validity of sequencing-based assays
EP3737773B1 (en) 2018-01-12 2023-04-12 Natera, Inc. Novel primers and uses thereof
WO2019161244A1 (en) 2018-02-15 2019-08-22 Natera, Inc. Methods for isolating nucleic acids with size selection
DK3781714T3 (da) 2018-04-14 2026-03-30 Natera Inc Fremgangsmåder til cancerpåvisning og -overvågning ved personlig påvisning af cirkulerende tumor-dna
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
US11814750B2 (en) 2018-05-31 2023-11-14 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US10801064B2 (en) 2018-05-31 2020-10-13 Personalis, Inc. Compositions, methods and systems for processing or analyzing multi-species nucleic acid samples
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN113227396A (zh) 2018-08-06 2021-08-06 十亿至一公司 用于定量生物靶的稀释标签
CN113056563B (zh) * 2018-09-03 2025-02-18 拉莫特特拉维夫大学有限公司 识别血液中基因异常的方法及系统
WO2020051542A2 (en) * 2018-09-07 2020-03-12 Illumina, Inc. A method to determine if a circulating fetal cell isolated from a pregnant mother is from either the current or a historical pregnancy
EP4617383A3 (en) 2018-12-17 2025-12-24 Natera, Inc. Methods for analysis of circulating cells
CN109887548B (zh) * 2019-01-18 2022-11-08 臻悦生物科技江苏有限公司 基于捕获测序的ctDNA占比的检测方法及检测装置
CN111560424A (zh) * 2019-02-13 2020-08-21 广州医科大学附属第一医院 可检测的目标核酸、探针、确定胎儿f8基因单体型的方法及应用
TWI874374B (zh) 2019-03-25 2025-03-01 香港中文大學 確定循環核酸之線性及環狀形式
AU2020262082A1 (en) * 2019-04-22 2021-11-25 Personal Genome Diagnostics Inc. Methods and systems for genetic analysis
US12305235B2 (en) 2019-06-06 2025-05-20 Natera, Inc. Methods for detecting immune cell DNA and monitoring immune system
CA3147888A1 (en) 2019-07-19 2021-01-28 23Andme, Inc. Phase-aware determination of identity-by-descent dna segments
MY205773A (en) * 2019-08-14 2024-11-12 Bgi Genomics Co Ltd Method and device for determining fetal nucleic acid concentration in maternal plasma
IL280270B (en) 2019-08-16 2022-07-01 Univ Hong Kong Chinese Determination of base modifications of nucleic acids
CN112466397A (zh) * 2019-09-09 2021-03-09 深圳乐土生物科技有限公司 一种用于亲缘关系检测的方法和装置
JP7470787B2 (ja) 2019-11-05 2024-04-18 パーソナリス，インコーポレイティド 単一試料からの腫瘍純度の推定
JP2023501006A (ja) * 2019-11-18 2023-01-17 エンバーク ヴェテリナリー，インコーポレーテッド 祖先血縁を決定するための方法およびシステム
IL320227A (en) 2020-02-05 2025-06-01 Univ Hong Kong Chinese Molecular analyses using long cell-free fragments in pregnancy
CN111312332B (zh) * 2020-02-13 2020-10-30 国家卫生健康委科学技术研究所 基于hla基因的生物信息处理方法、装置及终端
US11817176B2 (en) 2020-08-13 2023-11-14 23Andme, Inc. Ancestry composition determination
WO2022098980A1 (en) * 2020-11-08 2022-05-12 The Johns Hopkins University Methods and related aspects for analyzing chromosome number status
CN112575077A (zh) * 2020-12-23 2021-03-30 东莞市妇幼保健院 一种胎儿显性遗传病新发突变的无创基因检测方法及应用
AU2022261868A1 (en) 2021-04-22 2023-10-26 Natera, Inc. Methods for determining velocity of tumor growth
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
WO2023059654A1 (en) 2021-10-05 2023-04-13 Personalis, Inc. Customized assays for personalized cancer monitoring
JP2025502843A (ja) 2022-01-04 2025-01-28 ナテラ， インコーポレイテッド がん検出及びモニタリングのための方法
WO2023183812A2 (en) 2022-03-21 2023-09-28 Billion Toone, Inc. Molecule counting of methylated cell-free dna for treatment monitoring
WO2025208288A1 (zh) * 2024-04-01 2025-10-09 深圳华大生命科学研究院 基因预测方法、装置、计算机设备及计算机可读存储介质
WO2026006629A1 (en) 2024-06-27 2026-01-02 Personalis, Inc. System and method for management of compressed sequencing files
CN119007813B (zh) * 2024-09-29 2025-11-07 漳州片仔癀药业股份有限公司 一种基于mtDNA的高海拔饲养林麝的种源鉴定及遴选方法
CN120412715B (zh) * 2025-03-17 2025-11-28 上海蓝沙生物科技有限公司 一种通过多态性位点连锁区域块评估孕期母本游离血液中胎儿DNA浓度（cffDNA）的方法

Family Cites Families (28)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6664056B2 (en) * 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
US6927028B2 (en) * 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
BR0308161A (pt) 2002-03-01 2006-06-06 Ravgen Inc métodos para a detecção de distúrbios genéticos
US6977162B2 (en) * 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
RU2200761C1 (ru) 2002-04-01 2003-03-20 Московский НИИ педиатрии и детской хирургии Набор рекомбинантных плазмидных днк рyai 11-19, рyai 2-45, рys 37 и рyai 7-29 для определения происхождения добавочных или маркерных (мини-) хромосом человека
US20070178478A1 (en) 2002-05-08 2007-08-02 Dhallan Ravinder S Methods for detection of genetic disorders
US7727720B2 (en) 2002-05-08 2010-06-01 Ravgen, Inc. Methods for detection of genetic disorders
JP2006521086A (ja) 2003-02-28 2006-09-21 ラブジェン， インコーポレイテッド 遺伝子疾患の検出方法
EP1599608A4 (en) * 2003-03-05 2007-07-18 Genetic Technologies Ltd Identification of fetal DNA and fetal cell marker in maternal plasma or serum
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
JP5219516B2 (ja) 2005-03-18 2013-06-26 ザ チャイニーズ ユニバーシティー オブ ホンコン 染色体異数性の検出方法
US20070122823A1 (en) 2005-09-01 2007-05-31 Bianchi Diana W Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis
GB0523276D0 (en) 2005-11-15 2005-12-21 London Bridge Fertility Chromosomal analysis by molecular karyotyping
WO2007092473A2 (en) 2006-02-02 2007-08-16 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
SI1996728T1 (sl) * 2006-02-28 2011-10-28 Univ Louisville Res Found Prepoznavanje kromosomskih nenormalnosti pri zarodku s pomočjo dvojnih mononukleotidnih polimorfizmov
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
US12054776B2 (en) 2007-07-23 2024-08-06 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CN104732118B (zh) 2008-08-04 2017-08-22 纳特拉公司 等位基因调用和倍性调用的方法
CN104531837A (zh) 2008-12-22 2015-04-22 赛卢拉有限公司 检测等位基因、基因组和转录物组的方法和基因型分析谱
LT3241914T (lt) 2009-11-05 2019-04-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
CA2780016C (en) 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
EP2854058A3 (en) 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
EP3202921B1 (en) 2011-02-24 2019-02-13 The Chinese University of Hong Kong Molecular testing of multiple pregnancies
CN105121660B (zh) 2013-03-15 2018-09-28 香港中文大学 确定多胎妊娠的胎儿基因组

Also Published As

Publication number Publication date
HUE061110T2 (hu) 2023-05-28
HK1222413A1 (zh) 2017-06-30
CN105779280A (zh) 2016-07-20
US20220325344A1 (en) 2022-10-13
SI3783110T1 (sl) 2023-02-28
CN102770558A (zh) 2012-11-07
EA033752B1 (ru) 2019-11-21
US20110105353A1 (en) 2011-05-05
CY1122003T1 (el) 2020-10-14
HUE043574T2 (hu) 2019-08-28
JP2013509884A (ja) 2013-03-21
EP3783110A1 (en) 2021-02-24
US8467976B2 (en) 2013-06-18
DK2496717T3 (en) 2017-07-24
BR112012010694B8 (pt) 2021-07-27
BR112012010694B1 (pt) 2020-11-17
IL237179A (en) 2016-05-31
RS63944B1 (sr) 2023-02-28
US10093976B2 (en) 2018-10-09
EP3498863B1 (en) 2020-11-04
PL2496717T3 (pl) 2017-11-30
MX355132B (es) 2018-04-06
US20130323731A1 (en) 2013-12-05
ES2628874T3 (es) 2017-08-04
MX2022004800A (es) 2022-05-16
SMT201900229T1 (it) 2019-05-10
EP3241914A1 (en) 2017-11-08
AU2010315037B2 (en) 2014-09-18
RS58879B1 (sr) 2019-08-30
EA201200690A1 (ru) 2013-05-30
TW201122470A (en) 2011-07-01
US20180282807A1 (en) 2018-10-04
EP3498863A1 (en) 2019-06-19
US9512480B2 (en) 2016-12-06
AU2010315037A1 (en) 2012-06-07
ES2720282T3 (es) 2019-07-19
PL3783110T3 (pl) 2023-05-08
PT3241914T (pt) 2019-04-30
SMT202300034T1 (it) 2023-03-17
EP2496717B1 (en) 2017-06-07
JP5540105B2 (ja) 2014-07-02
EP2496717A1 (en) 2012-09-12
CN105779280B (zh) 2018-09-25
IL219521A (en) 2015-02-26
LT3241914T (lt) 2019-04-25
DK3241914T3 (en) 2019-04-23
JP6023117B2 (ja) 2016-11-09
MX2012005214A (es) 2012-09-21
TWI458976B (zh) 2014-11-01
AU2010315037A8 (en) 2012-07-12
HUE034854T2 (en) 2018-03-28
EP4170043A1 (en) 2023-04-26
ES2934941T3 (es) 2023-02-28
WO2011057094A1 (en) 2011-05-12
US11401551B2 (en) 2022-08-02
DK3783110T3 (da) 2023-02-06
JP6386494B2 (ja) 2018-09-05
JP2016195598A (ja) 2016-11-24
EP3783110B1 (en) 2022-11-23
FI3783110T3 (fi) 2023-03-02
CA2779695A1 (en) 2011-05-12
HRP20190601T1 (hr) 2019-10-04
LT3783110T (lt) 2023-01-25
EP3241914B1 (en) 2019-03-06
SI3241914T1 (sl) 2019-07-31
PL3241914T3 (pl) 2019-08-30
IL219521A0 (en) 2012-06-28
CN102770558B (zh) 2016-04-06
US20130253844A1 (en) 2013-09-26
CA2779695C (en) 2016-05-24
PT2496717T (pt) 2017-07-12
PT3783110T (pt) 2023-01-02
AU2010315037B9 (en) 2015-04-23
BR112012010694A2 (en) 2018-09-11
JP2014193165A (ja) 2014-10-09
IL237175A (en) 2017-05-29

Similar Documents

Publication Publication Date Title
HRP20190601T1 (hr) Genomska analiza fetusa iz majčinskog biološkog uzorka
CN115029451B (zh) 一种绵羊液相芯片及其应用
HRP20210983T1 (hr) Određivanje neravnoteže u sekvenci nukleinske kiseline
JP2013509884A5 (enExample)
Taboada et al. Current methods for molecular typing of Campylobacter species
JP2010534069A5 (enExample)
Hwa et al. A 1204-single nucleotide polymorphism and insertion–deletion polymorphism panel for massively parallel sequencing analysis of DNA mixtures
CN115198023B (zh) 一种海南黄牛液相育种芯片及其应用
US20220106642A1 (en) Multiplexed Parallel Analysis Of Targeted Genomic Regions For Non-Invasive Prenatal Testing
CN113046444A (zh) 用于肉牛个体及肉品溯源鉴定的snp标记组合及其应用
Fontanillas et al. Key considerations for measuring allelic expression on a genomic scale using high‐throughput sequencing
AU2020296110B2 (en) Systems and methods for determining genome ploidy
JP2011528903A5 (enExample)
CN115807100B (zh) 一种与肉鸡腹脂率相关的snp分子标记及其应用
Zhang et al. The development of a porcine 50K SNP panel using genotyping by target sequencing and its application
TW202438680A (zh) 可實施２種以上檢測的遺傳學分析方法
Hoffman et al. A novel approach for mining polymorphic microsatellite markers in silico
CN107447000B (zh) 一种与绵羊多羔相关的snp分子标记及其应用
Hofman et al. Limited mitochondrial DNA introgression in a Bombina hybrid zone
CN105331696B (zh) 一种鉴定猪肋骨数相关性状的方法及专用引物
CN116377084B (zh) 一种高效能常染色体微单倍型遗传标记体系及其检测引物和试剂盒
Ewart et al. TigerBase: A DNA registration system to enhance enforcement and compliance testing of captive tiger facilities
CN106011250B (zh) 一种检测牛smc2基因隐性致死突变的方法
CN118109605B (zh) 与尼里-拉菲水牛生长性状相关的snp分子标记组合及应用
CN104573409A (zh) 基因定位的多重检验方法