CN108350500A - 用于检测染色体异常的核酸和方法 - Google Patents

用于检测染色体异常的核酸和方法 Download PDF

Info

Publication number
CN108350500A
CN108350500A CN201680054740.0A CN201680054740A CN108350500A CN 108350500 A CN108350500 A CN 108350500A CN 201680054740 A CN201680054740 A CN 201680054740A CN 108350500 A CN108350500 A CN 108350500A
Authority
CN
China
Prior art keywords
mip
unique
nucleic acid
sequence
capture
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
CN201680054740.0A
Other languages
English (en)
Chinese (zh)
Inventor
T·曼
H·王
J·H·金
M·斯柯达特
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Plo Goni Di Co
Original Assignee
Plo Goni Di Co
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 Plo Goni Di Co filed Critical Plo Goni Di Co
Publication of CN108350500A publication Critical patent/CN108350500A/zh
Pending legal-status Critical Current

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
    • C12Q1/6876—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
    • 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
    • C12Q1/6811—Selection methods for production or design of target specific oligonucleotides or binding molecules
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6816—Hybridisation assays characterised by the detection means
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/20—Polymerase chain reaction [PCR]; Primer or probe design; Probe optimisation
    • 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
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Public Health (AREA)
  • Biomedical Technology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Databases & Information Systems (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Data Mining & Analysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Algebra (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Mathematical Physics (AREA)
  • Pure & Applied Mathematics (AREA)
  • General Physics & Mathematics (AREA)
CN201680054740.0A 2015-07-29 2016-07-29 用于检测染色体异常的核酸和方法 Pending CN108350500A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201562198654P 2015-07-29 2015-07-29
US62/198,654 2015-07-29
PCT/US2016/044914 WO2017020023A2 (en) 2015-07-29 2016-07-29 Nucleic acids and methods for detecting chromosomal abnormalities

Publications (1)

Publication Number Publication Date
CN108350500A true CN108350500A (zh) 2018-07-31

Family

ID=56610036

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201680054740.0A Pending CN108350500A (zh) 2015-07-29 2016-07-29 用于检测染色体异常的核酸和方法

Country Status (7)

Country Link
US (3) US10465245B2 (https=)
EP (2) EP3329010B1 (https=)
JP (1) JP6830094B2 (https=)
CN (1) CN108350500A (https=)
CA (1) CA2993347A1 (https=)
ES (1) ES2745556T3 (https=)
WO (1) WO2017020023A2 (https=)

Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN108779487A (zh) * 2015-11-16 2018-11-09 普罗格尼迪公司 用于检测甲基化状态的核酸和方法
CN112063690A (zh) * 2020-09-18 2020-12-11 北京求臻医学检验实验室有限公司 单分子探针多重靶向捕获文库的构建方法及应用
CN112266948A (zh) * 2020-11-06 2021-01-26 中山大学孙逸仙纪念医院 一种高通量靶向建库的方法和应用
CN112458085A (zh) * 2020-12-10 2021-03-09 北京求臻医学检验实验室有限公司 一种新型分子捕获优化探针及其文库构建方法

Families Citing this family (22)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US12129514B2 (en) 2009-04-30 2024-10-29 Molecular Loop Biosolutions, Llc Methods and compositions for evaluating genetic markers
EP2425240A4 (en) 2009-04-30 2012-12-12 Good Start Genetics Inc METHOD AND COMPOSITION FOR EVALUATING GENETIC MARKERS
US9163281B2 (en) 2010-12-23 2015-10-20 Good Start Genetics, Inc. Methods for maintaining the integrity and identification of a nucleic acid template in a multiplex sequencing reaction
US8209130B1 (en) 2012-04-04 2012-06-26 Good Start Genetics, Inc. Sequence assembly
US10227635B2 (en) 2012-04-16 2019-03-12 Molecular Loop Biosolutions, Llc Capture reactions
US10851414B2 (en) 2013-10-18 2020-12-01 Good Start Genetics, Inc. Methods for determining carrier status
WO2016040446A1 (en) 2014-09-10 2016-03-17 Good Start Genetics, Inc. Methods for selectively suppressing non-target sequences
WO2016112073A1 (en) * 2015-01-06 2016-07-14 Good Start Genetics, Inc. Screening for structural variants
WO2017020023A2 (en) 2015-07-29 2017-02-02 Progenity, Inc. Nucleic acids and methods for detecting chromosomal abnormalities
US10787699B2 (en) * 2017-02-08 2020-09-29 Microsoft Technology Licensing, Llc Generating pluralities of primer and payload designs for retrieval of stored nucleotides
US11441174B2 (en) 2017-06-02 2022-09-13 Affymetrix, Inc. Array-based methods for analysing mixed samples using differently labelled allele-specific probes
WO2018223055A1 (en) * 2017-06-02 2018-12-06 Affymetrix, Inc. Array-based methods for analysing mixed samples using differently labelled allele-specific probes
WO2018223057A1 (en) * 2017-06-02 2018-12-06 Affymetrix, Inc. Array-based methods for analysing mixed samples using different allele-specific labels, in particular for detection of fetal aneuploidies
CN120905352A (zh) 2018-04-02 2025-11-07 埃努梅拉分子股份有限公司 用于对核酸分子进行计数的方法、系统和组合物
CN112739828B (zh) * 2018-06-11 2024-04-09 深圳华大生命科学研究院 确定待测样本类型的方法及系统
US12247249B2 (en) * 2018-12-21 2025-03-11 Inivata Ltd. Method for amplifying a genomic sample
EP3947718A4 (en) 2019-04-02 2022-12-21 Enumera Molecular, Inc. METHODS, SYSTEMS AND COMPOSITIONS FOR COUNTING NUCLEIC ACID MOLECULES
AU2021345359A1 (en) 2020-09-21 2023-05-11 Enumera Molecular, Inc. Compositions and methods for isolation of cell-free dna
US12467081B2 (en) 2020-11-23 2025-11-11 Pleno, Inc. Encoded endonuclease assays
US12493965B2 (en) 2020-12-11 2025-12-09 Enumera Molecular, Inc. Methods and systems for image processing
WO2022140579A1 (en) * 2020-12-24 2022-06-30 Progenity, Inc. Methods of preparing assays, systems, and compositions for determining fetal fraction
JP2025540154A (ja) * 2022-12-02 2025-12-11 ルーセンス ライフ サイエンシズ プライベート リミテッド 遺伝子変化の効率的な多重検出および定量化のための方法

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007147076A2 (en) * 2006-06-14 2007-12-21 Living Microsystems, Inc. Methods for the diagnosis of fetal abnormalities
CN102985552A (zh) * 2009-11-25 2013-03-20 伯乐生命医学产品有限公司 用于检测遗传物质的方法和组合物

Family Cites Families (40)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5866337A (en) 1995-03-24 1999-02-02 The Trustees Of Columbia University In The City Of New York Method to detect mutations in a nucleic acid using a hybridization-ligation procedure
US5750341A (en) 1995-04-17 1998-05-12 Lynx Therapeutics, Inc. DNA sequencing by parallel oligonucleotide extensions
US6852487B1 (en) 1996-02-09 2005-02-08 Cornell Research Foundation, Inc. Detection of nucleic acid sequence differences using the ligase detection reaction with addressable arrays
SE9601676D0 (sv) 1996-04-30 1996-04-30 Ulf Landegren Improved probing of specific mucleic acids
EP2369007B1 (en) 1996-05-29 2015-07-29 Cornell Research Foundation, Inc. Detection of nucleic acid sequence differences using coupled ligase detection and polymerase chain reactions
US5817921A (en) 1996-07-12 1998-10-06 Advanced Technology Materials, Inc. Piezoelectric enviromental fluid monitoring assembly and method
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
US6054276A (en) 1998-02-23 2000-04-25 Macevicz; Stephen C. DNA restriction site mapping
AU3601599A (en) 1998-03-25 1999-10-18 Ulf Landegren Rolling circle replication of padlock probes
US6787308B2 (en) 1998-07-30 2004-09-07 Solexa Ltd. Arrayed biomolecules and their use in sequencing
FR2784683B1 (fr) * 1998-10-15 2002-12-13 Genset Sa Sondes fluorescentes de peinture chromosomique
GB9901475D0 (en) 1999-01-22 1999-03-17 Pyrosequencing Ab A method of DNA sequencing
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
AU7537200A (en) 1999-09-29 2001-04-30 Solexa Ltd. Polynucleotide sequencing
DE60131903T2 (de) 2000-10-24 2008-11-27 The Board of Trustees of the Leland S. Stanford Junior University, Palo Alto Direkte multiplex charakterisierung von genomischer dna
GB2378245A (en) 2001-08-03 2003-02-05 Mats Nilsson Nucleic acid amplification method
WO2005014846A2 (en) * 2003-07-24 2005-02-17 Sequenom, Inc. Methods for identifying risk of breast cancer and treatments thereof
US20060024681A1 (en) 2003-10-31 2006-02-02 Agencourt Bioscience Corporation Methods for producing a paired tag from a nucleic acid sequence and methods of use thereof
CA2615323A1 (en) 2005-06-06 2007-12-21 454 Life Sciences Corporation Paired end sequencing
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
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US7329860B2 (en) 2005-11-23 2008-02-12 Illumina, Inc. Confocal imaging methods and apparatus
US8828661B2 (en) 2006-04-24 2014-09-09 Fluidigm Corporation Methods for detection and quantification of nucleic acid or protein targets in a sample
WO2007147079A2 (en) * 2006-06-14 2007-12-21 Living Microsystems, Inc. Rare cell analysis using sample splitting and dna tags
US7754429B2 (en) 2006-10-06 2010-07-13 Illumina Cambridge Limited Method for pair-wise sequencing a plurity of target polynucleotides
EP2126766A2 (en) 2007-01-26 2009-12-02 Illumina Inc. Image data efficient genetic sequencing method and system
US20080269068A1 (en) 2007-02-06 2008-10-30 President And Fellows Of Harvard College Multiplex decoding of sequence tags in barcodes
EP2425240A4 (en) * 2009-04-30 2012-12-12 Good Start Genetics Inc METHOD AND COMPOSITION FOR EVALUATING GENETIC MARKERS
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
JP2013511991A (ja) * 2009-11-25 2013-04-11 クアンタライフ， インコーポレイテッド 遺伝子材料を検出する方法および組成物
US20130022973A1 (en) * 2010-01-15 2013-01-24 Hansen Carl L G Multiplex Amplification for the Detection of Nucleic Acid Variations
US8759036B2 (en) 2011-03-21 2014-06-24 Affymetrix, Inc. Methods for synthesizing pools of probes
US10227635B2 (en) * 2012-04-16 2019-03-12 Molecular Loop Biosolutions, Llc Capture reactions
US10497461B2 (en) * 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN104781421B (zh) 2012-09-04 2020-06-05 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
WO2014165267A2 (en) * 2013-03-12 2014-10-09 Counsyl, Inc. Systems and methods for prenatal genetic analysis
MX2015012733A (es) * 2013-03-15 2016-06-21 Immucor Gti Diagnostics Inc Metodos y composiciones para evaluar el estado renal usando adn libre de celulas de la orina.
US20150141257A1 (en) 2013-08-02 2015-05-21 Roche Nimblegen, Inc. Sequence capture method using specialized capture probes (heatseq)
CA2993619A1 (en) 2015-07-29 2017-02-02 Progenity, Inc. Systems and methods for genetic analysis
WO2017020023A2 (en) 2015-07-29 2017-02-02 Progenity, Inc. Nucleic acids and methods for detecting chromosomal abnormalities

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2007147076A2 (en) * 2006-06-14 2007-12-21 Living Microsystems, Inc. Methods for the diagnosis of fetal abnormalities
CN102985552A (zh) * 2009-11-25 2013-03-20 伯乐生命医学产品有限公司 用于检测遗传物质的方法和组合物

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
JOSEPH B. HIATT等: "Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation", 《GENOME RES》 *
KASPER KARLSSON等: "Amplification-free sequencing of cell-free DNA for prenatal non-invasive diagnosis of chromosomal aberrations", 《GENOMICS》 *
ROSSA W. K. CHIU等: "Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma", 《PNAS》 *
ROSSA W.K. CHIU等: "Maternal Plasma DNA Analysis with Massively Parallel Sequencing by Ligation for Noninvasive Prenatal Diagnosis of Trisomy 21", 《CLINICAL CHEMISTRY》 *

Cited By (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN108779487A (zh) * 2015-11-16 2018-11-09 普罗格尼迪公司 用于检测甲基化状态的核酸和方法
CN112063690A (zh) * 2020-09-18 2020-12-11 北京求臻医学检验实验室有限公司 单分子探针多重靶向捕获文库的构建方法及应用
CN112266948A (zh) * 2020-11-06 2021-01-26 中山大学孙逸仙纪念医院 一种高通量靶向建库的方法和应用
CN112458085A (zh) * 2020-12-10 2021-03-09 北京求臻医学检验实验室有限公司 一种新型分子捕获优化探针及其文库构建方法

Also Published As

Publication number Publication date
WO2017020023A3 (en) 2017-03-09
US20200354792A1 (en) 2020-11-12
JP6830094B2 (ja) 2021-02-17
CA2993347A1 (en) 2017-02-02
HK1256543A1 (en) 2019-09-27
EP3608420B1 (en) 2021-05-19
EP3329010B1 (en) 2019-07-10
WO2017020023A2 (en) 2017-02-02
US20170183731A1 (en) 2017-06-29
EP3329010A2 (en) 2018-06-06
US10947595B2 (en) 2021-03-16
JP2018524993A (ja) 2018-09-06
US20200032344A1 (en) 2020-01-30
US10465245B2 (en) 2019-11-05
ES2745556T3 (es) 2020-03-02
EP3608420A1 (en) 2020-02-12

Similar Documents

Publication Publication Date Title
US10947595B2 (en) Nucleic acids and methods for detecting chromosomal abnormalities
US20210371907A1 (en) Using cell-free dna fragment size to determine copy number variations
US20220127683A1 (en) Detecting mutations for cancer screening
TWI661049B (zh) 使用不含細胞之ｄｎａ片段大小以測定複製數變異之方法
US10658070B2 (en) Resolving genome fractions using polymorphism counts
EP3117011B1 (en) Methods and processes for non-invasive assessment of genetic variations
CN105074011B (zh) 用于非入侵性性染色体非整倍性确定的统计分析
US20170298427A1 (en) Nucleic acids and methods for detecting methylation status
US20120184449A1 (en) Fetal genetic variation detection
US20190309352A1 (en) Multimodal assay for detecting nucleic acid aberrations
KR20240014606A (ko) 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
WO2019008153A1 (en) COMPLETE MULTIPLEXED PARALLEL ANALYSIS FOR THE EVALUATION OF FETAL DNA SAMPLES
HK1256543B (en) Nucleic acids and methods for detecting chromosomal abnormalities
EP4721070A1 (en) Methods for discriminating between fetal and maternal events in non-invasive prenatal test samples
HK40055868B (zh) 使用无细胞dna片段尺寸以确定拷贝数变异
HK1227442B (en) Methods and processes for non-invasive assessment of genetic variations
HK1227442A1 (en) Methods and processes for non-invasive assessment of genetic variations

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
WD01 Invention patent application deemed withdrawn after publication

Application publication date: 20180731

WD01 Invention patent application deemed withdrawn after publication