JP6793112B2 - 胎児コピー数変異の統計的尤度を提供するアッセイ方法および胎児染色体異数性の尤度決定のためのアッセイ方法 - Google Patents

胎児コピー数変異の統計的尤度を提供するアッセイ方法および胎児染色体異数性の尤度決定のためのアッセイ方法 Download PDF

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JP6793112B2
JP6793112B2 JP2017503992A JP2017503992A JP6793112B2 JP 6793112 B2 JP6793112 B2 JP 6793112B2 JP 2017503992 A JP2017503992 A JP 2017503992A JP 2017503992 A JP2017503992 A JP 2017503992A JP 6793112 B2 JP6793112 B2 JP 6793112B2
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nucleic acid
region
sequence
oligonucleotides
capture
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JP2017526347A5 (2
JP2017526347A (ja
Inventor
オリファント、アーノルド
ザーン、ジェイコブ
ジュノー、カラ
ボガード、パトリック
ファン、ステファニー
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Ariosa Diagnostics Inc
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Ariosa Diagnostics Inc
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    • 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
    • C12Q1/6834—Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • C12Q1/6837—Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6862—Ligase chain reaction [LCR]
    • 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
    • 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
    • C12Q2565/00—Nucleic acid analysis characterised by mode or means of detection
    • C12Q2565/50—Detection characterised by immobilisation to a surface
    • C12Q2565/519—Detection characterised by immobilisation to a surface characterised by the capture moiety being a single stranded oligonucleotide

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
JP2017503992A 2014-08-01 2015-07-29 胎児コピー数変異の統計的尤度を提供するアッセイ方法および胎児染色体異数性の尤度決定のためのアッセイ方法 Active JP6793112B2 (ja)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US14/450,144 US20140342940A1 (en) 2011-01-25 2014-08-01 Detection of Target Nucleic Acids using Hybridization
US14/450,144 2014-08-01
US14/453,396 US9567639B2 (en) 2010-08-06 2014-08-06 Detection of target nucleic acids using hybridization
US14/453,396 2014-08-06
PCT/US2015/042604 WO2016018986A1 (en) 2014-08-01 2015-07-29 Detection of target nucleic acids using hybridization

Publications (3)

Publication Number Publication Date
JP2017526347A JP2017526347A (ja) 2017-09-14
JP2017526347A5 JP2017526347A5 (2) 2018-11-22
JP6793112B2 true JP6793112B2 (ja) 2020-12-02

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JP2017503992A Active JP6793112B2 (ja) 2014-08-01 2015-07-29 胎児コピー数変異の統計的尤度を提供するアッセイ方法および胎児染色体異数性の尤度決定のためのアッセイ方法

Country Status (10)

Country Link
EP (1) EP3175236B1 (2)
JP (1) JP6793112B2 (2)
KR (1) KR20170036727A (2)
CN (1) CN106537142B (2)
AU (1) AU2015296602B2 (2)
CA (1) CA2955740A1 (2)
ES (1) ES2752237T3 (2)
MX (1) MX376755B (2)
SG (1) SG11201700765WA (2)
WO (1) WO2016018986A1 (2)

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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
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
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10533223B2 (en) 2010-08-06 2020-01-14 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
US10829816B2 (en) 2012-11-19 2020-11-10 Apton Biosystems, Inc. Methods of analyte detection
WO2015026873A1 (en) 2013-08-19 2015-02-26 Singular Bio, Inc. Assays for single molecule detection and use thereof
CN107735497B (zh) 2015-02-18 2021-08-20 卓异生物公司 用于单分子检测的测定及其应用
EP3601599A4 (en) * 2017-03-23 2020-12-23 Apton Biosystems, Inc. POLYMORPHISM DETECTION WITH INCREASED ACCURACY
EP3631008B1 (en) * 2017-06-02 2025-12-03 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
WO2018223053A1 (en) * 2017-06-02 2018-12-06 Affymetrix, Inc. Array-based methods for analysing mixed samples using differently labelled allele-specific probes
US20210407621A1 (en) * 2018-10-12 2021-12-30 Nantomics, Llc Prenatal purity assessments using bambam

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US6506594B1 (en) * 1999-03-19 2003-01-14 Cornell Res Foundation Inc Detection of nucleic acid sequence differences using the ligase detection reaction with addressable arrays
US20020042681A1 (en) * 2000-10-03 2002-04-11 International Business Machines Corporation Characterization of phenotypes by gene expression patterns and classification of samples based thereon
EP1685380A2 (en) * 2003-09-18 2006-08-02 Parallele Bioscience, Inc. System and methods for enhancing signal-to-noise ratios of microarray-based measurements
WO2005035725A2 (en) * 2003-10-08 2005-04-21 The Trustees Of Boston University Methods for prenatal diagnosis of chromosomal abnormalities
RU2008150483A (ru) * 2006-05-22 2010-06-27 Клиникал Дженомикс Пти Лтд (Au) Способ выявления
EA034241B1 (ru) * 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
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
US20120034603A1 (en) * 2010-08-06 2012-02-09 Tandem Diagnostics, Inc. Ligation-based detection of genetic variants
US10131947B2 (en) * 2011-01-25 2018-11-20 Ariosa Diagnostics, Inc. Noninvasive detection of fetal aneuploidy in egg donor pregnancies
AU2011358564B9 (en) * 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
ES2556580T3 (es) * 2011-07-08 2016-01-19 Keygene N.V. Genotipado a base de secuencias en base a ensayos de ligación a oligonucleótidos
US10196681B2 (en) * 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN104204228A (zh) * 2012-02-14 2014-12-10 康奈尔大学 使用组合的核酸酶、连接和聚合酶反应用于核酸序列的相对定量、表达或拷贝变化的方法
WO2013192292A1 (en) * 2012-06-21 2013-12-27 Justin Lamb Massively-parallel multiplex locus-specific nucleic acid sequence analysis
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

Also Published As

Publication number Publication date
MX2017001405A (es) 2017-05-17
CA2955740A1 (en) 2016-02-04
WO2016018986A1 (en) 2016-02-04
CN106537142A (zh) 2017-03-22
CN106537142B (zh) 2019-11-19
EP3175236A4 (en) 2017-12-27
EP3175236A1 (en) 2017-06-07
KR20170036727A (ko) 2017-04-03
MX376755B (es) 2025-03-07
AU2015296602A1 (en) 2017-02-16
EP3175236B1 (en) 2019-08-21
SG11201700765WA (en) 2017-02-27
AU2015296602B2 (en) 2021-09-16
JP2017526347A (ja) 2017-09-14
ES2752237T3 (es) 2020-04-03

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