HRP20220296T1 - Razrješavanje frakcija genoma pomoću brojanja polimorfizma - Google Patents

Razrješavanje frakcija genoma pomoću brojanja polimorfizma Download PDF

Info

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
Application number
HRP20220296TT
Other languages
English (en)
Croatian (hr)
Inventor
Richard P. Rava
Brian K. Rhees
John P. Burke
Original Assignee
Verinata Health, 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
Family has litigation
First worldwide family litigation filed litigation Critical https://patents.darts-ip.com/?family=46001809&utm_source=google_patent&utm_medium=platform_link&utm_campaign=public_patent_search&patent=HRP20220296(T1) "Global patent litigation dataset” by Darts-ip is licensed under a Creative Commons Attribution 4.0 International License.
Application filed by Verinata Health, Inc. filed Critical Verinata Health, Inc.
Publication of HRP20220296T1 publication Critical patent/HRP20220296T1/hr

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6809Methods for determination or identification of nucleic acids involving differential detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B45/00ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic 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)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Data Mining & Analysis (AREA)
  • Pathology (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Epidemiology (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)
HRP20220296TT 2011-04-12 2012-04-12 Razrješavanje frakcija genoma pomoću brojanja polimorfizma HRP20220296T1 (hr)

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 (4) US9447453B2 (https=)
EP (5) EP4039820A1 (https=)
JP (3) JP5863946B2 (https=)
CN (2) CN103797129B (https=)
AU (1) AU2012242698C1 (https=)
CA (1) CA2832468C (https=)
CY (4) CY1117574T1 (https=)
DK (4) DK3456844T3 (https=)
ES (4) ES2907069T3 (https=)
HR (3) HRP20220296T1 (https=)
HU (3) HUE050032T2 (https=)
IL (1) IL228843A (https=)
LT (3) LT3456844T (https=)
PL (4) PL3078752T3 (https=)
PT (3) PT3456844T (https=)
RS (3) RS60710B1 (https=)
SI (3) SI3078752T1 (https=)
SM (3) SMT201800558T1 (https=)
TR (1) TR201816062T4 (https=)
WO (1) WO2012142334A2 (https=)

Families Citing this family (127)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (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
US11111544B2 (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
CN102171565B (zh) 2008-08-04 2015-04-29 纳特拉公司 等位基因调用和倍性调用的方法
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US11332785B2 (en) 2010-05-18 2022-05-17 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
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US12545960B2 (en) 2010-05-18 2026-02-10 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
US11322224B2 (en) 2010-05-18 2022-05-03 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
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
EP2572003A4 (en) 2010-05-18 2016-01-13 Natera Inc METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT
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
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
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US20120034603A1 (en) 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US11031095B2 (en) 2010-08-06 2021-06-08 Ariosa Diagnostics, Inc. Assay systems for determination of fetal copy number variation
US11203786B2 (en) 2010-08-06 2021-12-21 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
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
WO2012088456A2 (en) 2010-12-22 2012-06-28 Natera, Inc. Methods for non-invasive prenatal paternity testing
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
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
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
AU2011358564B9 (en) 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
EP2860265B1 (en) 2011-02-24 2016-10-26 The Chinese University of Hong Kong Determining fetal DNA percentage for twins
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
ES2651612T3 (es) 2011-10-18 2018-01-29 Multiplicom Nv Diagnóstico de aneuploidía cromosómica fetal
US10289800B2 (en) 2012-05-21 2019-05-14 Ariosa Diagnostics, Inc. Processes for calculating phased fetal genomic sequences
JP2015522293A (ja) 2012-07-19 2015-08-06 アリオサ ダイアグノスティックス インコーポレイテッドAriosa Diagnostics,Inc. 多重化連続ライゲーションに基づく遺伝子変異体の検出
CA2878246C (en) 2012-07-20 2022-01-11 Verinata Health, Inc. Detecting and classifying copy number variation in a cancer 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
EP4293125A3 (en) 2012-12-10 2024-02-28 Resolution Bioscience, Inc. Methods for targeted genomic analysis
CN113337604A (zh) 2013-03-15 2021-09-03 莱兰斯坦福初级大学评议会 循环核酸肿瘤标志物的鉴别和用途
GB201304810D0 (en) * 2013-03-15 2013-05-01 Isis Innovation Assay
EP4604127A3 (en) 2013-05-24 2025-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
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
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
RU2543155C1 (ru) * 2014-02-03 2015-02-27 Закрытое акционерное общество "Геноаналитика" Способ неинвазивной диагностики анеуплоидий плода методом секвенирования
US10741291B2 (en) * 2014-03-27 2020-08-11 The Scripps Research Institute Systems and methods for genomic annotation and distributed variant interpretation
EP3957749A1 (en) 2014-04-21 2022-02-23 Natera, Inc. Detecting tumour specific mutations in biopsies with whole exome sequencing and in cell-free samples
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
WO2016011414A1 (en) * 2014-07-18 2016-01-21 Illumina, Inc. Non-invasive prenatal diagnosis of fetal genetic condition using cellular dna and cell free dna
WO2016019042A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20160053301A1 (en) 2014-08-22 2016-02-25 Clearfork Bioscience, Inc. Methods for quantitative genetic analysis of cell free dna
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
US10429342B2 (en) 2014-12-18 2019-10-01 Edico Genome Corporation Chemically-sensitive field effect transistor
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9857328B2 (en) 2014-12-18 2018-01-02 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
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
WO2016183106A1 (en) 2015-05-11 2016-11-17 Natera, Inc. Methods and compositions for determining ploidy
US20180327820A1 (en) * 2015-06-15 2018-11-15 Murdoch Childrens Research Institute Method of measuring chimerism
BE1023274A9 (nl) * 2015-07-17 2017-03-17 Multiplicom Nv Schattingswerkwijze en -systeem voor het schatten van een foetale fractie
CN108026576B (zh) * 2015-09-22 2022-06-28 香港中文大学 通过母亲血浆dna的浅深度测序准确定量胎儿dna分数
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
RU2018121254A (ru) 2015-11-11 2019-12-16 Резолюшн Байосайенс, Инк. Высокоэффективное построение библиотек днк
WO2017165463A1 (en) 2016-03-22 2017-09-28 Counsyl, Inc. Combinatorial dna screening
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
WO2017201081A1 (en) 2016-05-16 2017-11-23 Agilome, Inc. Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids
US11319594B2 (en) 2016-08-25 2022-05-03 Resolution Bioscience, Inc. Methods for the detection of genomic copy changes in DNA samples
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
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
CN109996894A (zh) * 2016-11-18 2019-07-09 香港中文大学 用于单基因疾病的基于通用单倍型的非侵入性产前测试
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
US10894976B2 (en) 2017-02-21 2021-01-19 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
JP7009518B2 (ja) * 2017-06-20 2022-01-25 イルミナ インコーポレイテッド 既知又は未知の遺伝子型の複数のコントリビューターからのdna混合物の分解及び定量化のための方法並びにシステム
IL271147B2 (en) * 2017-06-20 2025-04-01 Illumina Inc Accurate computational methods for decomposing mixtures of DNA from donors with unknown genotypes
US12237053B2 (en) 2017-06-27 2025-02-25 Grail, Inc. Detecting cross-contamination in sequencing data
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
JP2021506342A (ja) 2017-12-14 2021-02-22 ティーエーアイ ダイアグノスティックス インコーポレイテッドTai Diagnostics,Inc. 移植のための移植片適合性の評価
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
CA3090426A1 (en) 2018-04-14 2019-10-17 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
US12234509B2 (en) 2018-07-03 2025-02-25 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
US20210301342A1 (en) * 2018-09-07 2021-09-30 Sequenom, Inc. Methods, and systems to detect transplant rejection
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
EP3927845A1 (en) * 2019-02-19 2021-12-29 Sequenom, Inc. Compositions, methods, and systems to detect hematopoietic stem cell transplantation status
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
EP3980559A1 (en) 2019-06-06 2022-04-13 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
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
US12305242B2 (en) 2020-04-24 2025-05-20 The Johns Hopkins University Methods and related aspects for quantitative polymerase chain reaction to determine fractional abundance
US11946104B2 (en) 2020-07-07 2024-04-02 Billiontoone, Inc. Non-invasive prenatal testing at early stage of pregnancy
JP7121440B1 (ja) * 2020-12-16 2022-08-18 株式会社seeDNA 多型座位の信号の信頼性値の算出方法
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
WO2023014597A1 (en) 2021-08-02 2023-02-09 Natera, Inc. Methods for detecting neoplasm in pregnant women
CA3223315A1 (en) 2022-02-16 2023-08-24 Michael Mehan Minimizing fetal fraction bias in maternal polygenic risk score estimation
CN115035950B (zh) * 2022-06-28 2025-08-12 广州燃石医学检验所有限公司 基因型检测方法、样本污染检测方法、装置、设备及介质
JP2025043574A (ja) * 2023-09-19 2025-04-01 株式会社東芝 試料識別方法及びバイオマーカー

Family Cites Families (88)

* Cited by examiner, † Cited by third party
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
US5965362A (en) 1992-03-04 1999-10-12 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
JP2001510557A (ja) 1996-10-04 2001-07-31 イントロン エルエルシー サンプル収集デバイス及びマーカーを用いたサンプル収集方法、及びサンプル確認、ラボの評価及び/又は認定の際の比較試料としてのマーカーの使用
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
JP2002503954A (ja) 1997-04-01 2002-02-05 グラクソ、グループ、リミテッド 核酸増幅法
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)
WO2003074740A1 (en) 2002-03-01 2003-09-12 Ravgen, Inc. Rapid analysis of variations in a genome
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
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
CA2500392C (en) 2002-09-27 2012-11-27 The General Hospital Corporation Microfluidic device for cell separation and uses thereof
US10229244B2 (en) 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
ES2329364T3 (es) 2003-01-17 2009-11-25 The Trustees Of Boston University Analisis de haplotipos.
WO2004078999A1 (en) * 2003-03-05 2004-09-16 Genetic Technologies Limited Identification of fetal dna and fetal cell markers in maternal plasma or serum
US20040209299A1 (en) 2003-03-07 2004-10-21 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
US7252946B2 (en) 2004-01-27 2007-08-07 Zoragen, Inc. Nucleic acid detection
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
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
US20090117542A1 (en) 2004-05-17 2009-05-07 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
CA2601221C (en) 2005-03-18 2013-08-06 The Chinese University Of Hong Kong A method for the detection of chromosomal aneuploidies
EP1891218A2 (en) 2005-06-08 2008-02-27 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
TR201910868T4 (tr) 2006-02-02 2019-08-21 Univ Leland Stanford Junior Dijital analizle invazif olmayan fetal genetik tarama.
EP2351858B1 (en) 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20100184043A1 (en) * 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
WO2007146106A2 (en) 2006-06-05 2007-12-21 Cryo- Cell International, Inc. Procurement, isolation and cryopreservation of maternal placental cells
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
WO2007147074A2 (en) * 2006-06-14 2007-12-21 Living Microsystems, Inc. Use of highly parallel snp genotyping for fetal diagnosis
WO2007147079A2 (en) 2006-06-14 2007-12-21 Living Microsystems, Inc. Rare cell analysis using sample splitting and dna tags
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
WO2008015396A2 (en) 2006-07-31 2008-02-07 Solexa 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
WO2008098142A2 (en) 2007-02-08 2008-08-14 Sequenom, Inc. Nucleic acid-based tests for rhd typing, gender determination and nucleic acid quantification
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
LT2557517T (lt) 2007-07-23 2023-01-10 The Chinese University Of Hong Kong Nukleino rūgščių sekos disbalanso nustatymas
AU2008308457A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
CA2717320A1 (en) * 2008-03-11 2009-09-17 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
US20090307179A1 (en) 2008-03-19 2009-12-10 Brandon Colby Genetic analysis
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
US20090270601A1 (en) 2008-04-21 2009-10-29 Steven Albert Benner Differential detection of single nucleotide polymorphisms
ES2595489T3 (es) 2008-07-18 2016-12-30 Trovagene, Inc. Métodos para la detección de secuencias de ácidos nucleicos "ultracortos" basados en PCR
HUE031848T2 (en) 2008-09-20 2017-08-28 Univ Leland Stanford Junior Non-invasive 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
AU2010311535B2 (en) 2009-10-26 2015-05-21 Lifecodexx Ag Means and methods for non-invasive diagnosis of chromosomal aneuploidy
LT3783110T (lt) * 2009-11-05 2023-01-25 The Chinese University Of Hong Kong Vaisiaus genomo analizė iš motinos biologinio mėginio
US9361426B2 (en) 2009-11-12 2016-06-07 Esoterix Genetic Laboratories, Llc Copy number analysis of genetic locus
US20120237928A1 (en) 2010-10-26 2012-09-20 Verinata Health, Inc. Method for determining copy number variations
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
CA2786564A1 (en) 2010-01-19 2011-07-28 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
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
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
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
MX349568B (es) 2010-11-30 2017-08-03 Univ Hong Kong Chinese Deteccion de aberraciones geneticas o moleculares asociadas con el cancer.
WO2012078792A2 (en) * 2010-12-07 2012-06-14 Stanford University Non-invasive determination of fetal inheritance of parental haplotypes at the genome-wide scale
CA2822439A1 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
WO2012103031A2 (en) 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
AU2011358564B9 (en) * 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
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
JP6161607B2 (ja) 2011-07-26 2017-07-12 ベリナタ ヘルス インコーポレイテッド サンプルにおける異なる異数性の有無を決定する方法

Also Published As

Publication number Publication date
AU2012242698C1 (en) 2015-06-04
AU2012242698B2 (en) 2014-09-04
EP2697392A2 (en) 2014-02-19
CA2832468C (en) 2023-10-31
EP3456844B1 (en) 2020-06-10
SI3456844T1 (sl) 2020-10-30
RS60710B1 (sr) 2020-09-30
LT3456844T (lt) 2020-08-25
RS57837B1 (sr) 2018-12-31
PL3567124T3 (pl) 2022-04-19
HUE050032T2 (hu) 2020-11-30
ES2806728T3 (es) 2021-02-18
SMT202000403T1 (it) 2020-09-10
PL2697392T3 (pl) 2016-08-31
DK3456844T3 (da) 2020-06-29
JP6760917B2 (ja) 2020-09-23
JP5863946B2 (ja) 2016-02-17
CN103797129A (zh) 2014-05-14
US20260038632A1 (en) 2026-02-05
EP2697392B1 (en) 2016-03-02
WO2012142334A3 (en) 2013-04-25
US10658070B2 (en) 2020-05-19
SI3567124T1 (sl) 2022-05-31
JP6268153B2 (ja) 2018-01-24
HUE041411T2 (hu) 2019-05-28
LT3567124T (lt) 2022-04-11
US20200251180A1 (en) 2020-08-06
PL3078752T3 (pl) 2019-02-28
EP3078752A1 (en) 2016-10-12
US20170039318A1 (en) 2017-02-09
CN106319047A (zh) 2017-01-11
CA2832468A1 (en) 2012-10-18
TR201816062T4 (tr) 2018-11-21
PT3567124T (pt) 2022-02-01
DK3567124T3 (da) 2022-03-07
ES2572912T3 (es) 2016-06-03
PT3078752T (pt) 2018-11-22
IL228843A0 (en) 2013-12-31
RS63008B1 (sr) 2022-03-31
EP3567124B1 (en) 2021-12-15
HUE057424T2 (hu) 2022-05-28
HRP20201249T1 (hr) 2020-11-13
CY1125362T1 (el) 2024-02-16
CN103797129B (zh) 2016-08-17
EP3456844A1 (en) 2019-03-20
DK2697392T3 (en) 2016-03-29
ES2692333T3 (es) 2018-12-03
WO2012142334A2 (en) 2012-10-18
EP4039820A1 (en) 2022-08-10
JP2014512817A (ja) 2014-05-29
CY1117574T1 (el) 2017-04-26
HK1195103A1 (zh) 2014-10-31
EP3078752B1 (en) 2018-08-01
AU2012242698A1 (en) 2013-05-09
JP2016101168A (ja) 2016-06-02
SMT202200090T1 (it) 2022-03-21
HRP20181770T1 (hr) 2018-12-28
PL3456844T3 (pl) 2020-11-16
CY1120851T1 (el) 2019-12-11
SMT201800558T1 (it) 2018-11-09
ES2907069T3 (es) 2022-04-21
CN106319047B (zh) 2020-02-18
SI3078752T1 (sl) 2018-12-31
IL228843A (en) 2016-07-31
US9447453B2 (en) 2016-09-20
US20120264121A1 (en) 2012-10-18
CY1123287T1 (el) 2021-12-31
LT3078752T (lt) 2018-11-26
DK3078752T3 (en) 2018-11-12
JP2018061514A (ja) 2018-04-19
EP3567124A1 (en) 2019-11-13
PT3456844T (pt) 2020-08-25

Similar Documents

Publication Publication Date Title
HRP20220296T1 (hr) Razrješavanje frakcija genoma pomoću brojanja polimorfizma
JP2014512817A5 (https=)
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
RU2589681C2 (ru) Неинвазивное обнаружение генетической аномалии плода
JP6328934B2 (ja) 非侵襲性出生前親子鑑定法
TWI641834B (zh) 藉由大量平行rna定序之母體血漿轉錄體分析
JP2022058904A (ja) 無細胞核酸の多重解像度分析のための方法
TW201700732A (zh) 偵測突變以用於癌症篩選及胎兒分析
EA028642B1 (ru) Способ пренатальной диагностики фетальной хромосомной анэуплоидии
HK1208708A1 (en) Non-invasive method for detecting a fetal chromosomal aneuploidy
TWI889083B (zh) 可實施2種以上檢測的遺傳學分析方法
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
CN102876794A (zh) 单核苷酸多态性rs6871626在检测麻风病易感基因中的应用
CN107619863A (zh) 检测癌症的存在风险的方法
CN113227401B (zh) 来自克隆性造血的无细胞dna突变的片段大小表征
EP4180532A1 (en) Methods for determining the origin of dna molecules
CN110475874A (zh) 脱靶序列在dna分析中的应用
JP2022527316A (ja) ウィルスに関連した癌のリスクの層別化
CN105112415A (zh) 用于2型糖尿病患病风险评估的遗传位点rs780092及检测试剂盒
CN107653310B (zh) 与血脂水平相关的单核苷酸多态性rs4377290检测系统及相关应用
Palukuri et al. Outcomes of chronic myeloid leukemia with T315I mutation in the absence of targeted therapy or hematopoietic stem cell transplantation
Biegert et al. Diversity and composition of gut microbiome of cervical cancer patients by 16S rRNA and whole-metagenome sequencing
Fabris GENOMIC AND EPIGENETIC APPROACHES IN THE CLINICAL AND PROGNOSTIC STRATIFICATION OF CHRONIC LYMPHOCYTIC LEUKEMIA
Coquerelle et al. RUBIH2-Use of NGS in haematological malignancies: From real world data to national recommendations, an innovative program to evaluate the impact of healthcare technology on patient care