PT3649257T - Enriquecimento de regiões genómicas visadas para análise paralela multiplexada - Google Patents

Enriquecimento de regiões genómicas visadas para análise paralela multiplexada

Info

Publication number
PT3649257T
PT3649257T PT187455084T PT18745508T PT3649257T PT 3649257 T PT3649257 T PT 3649257T PT 187455084 T PT187455084 T PT 187455084T PT 18745508 T PT18745508 T PT 18745508T PT 3649257 T PT3649257 T PT 3649257T
Authority
PT
Portugal
Prior art keywords
enrichment
genomic regions
parallel analysis
targeted genomic
multiplexed parallel
Prior art date
Application number
PT187455084T
Other languages
English (en)
Original Assignee
Nipd Genetics Public Company Ltd
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 Nipd Genetics Public Company Ltd filed Critical Nipd Genetics Public Company Ltd
Publication of PT3649257T publication Critical patent/PT3649257T/pt

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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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034—Isolating an individual clone by screening libraries
    • C12N15/1093—General methods of preparing gene libraries, not provided for in other subgroups
    • 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
    • C12Q1/6876—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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06F—ELECTRIC DIGITAL DATA PROCESSING
    • G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
    • G06F17/10—Complex mathematical operations
    • G06F17/18—Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis
    • 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
    • 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
    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/185—Modifications characterised by incorporating bases where the precise position of the bases in the nucleic acid string is important
    • 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
    • C12Q2525/00—Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10—Modifications characterised by
    • C12Q2525/204—Modifications characterised by specific length of the oligonucleotides
    • 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
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive parallel sequencing
    • 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
    • C12Q2537/159—Reduction of complexity, e.g. amplification of subsets, removing duplicated genomic regions
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Theoretical Computer Science (AREA)
  • Data Mining & Analysis (AREA)
  • General Physics & Mathematics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Pure & Applied Mathematics (AREA)
  • Biomedical Technology (AREA)
  • Mathematical Physics (AREA)
  • Computational Mathematics (AREA)
  • Mathematical Analysis (AREA)
  • Mathematical Optimization (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Medical Informatics (AREA)
  • Algebra (AREA)
  • Databases & Information Systems (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Probability & Statistics with Applications (AREA)
PT187455084T 2017-07-07 2018-07-06 Enriquecimento de regiões genómicas visadas para análise paralela multiplexada PT3649257T (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201762529667P 2017-07-07 2017-07-07

Publications (1)

Publication Number Publication Date
PT3649257T true PT3649257T (pt) 2022-05-19

Family

ID=63012984

Family Applications (1)

Application Number Title Priority Date Filing Date
PT187455084T PT3649257T (pt) 2017-07-07 2018-07-06 Enriquecimento de regiões genómicas visadas para análise paralela multiplexada

Country Status (10)

Country Link
US (1) US20200157602A1 (pt)
EP (1) EP3649257B1 (pt)
AU (1) AU2018296568A1 (pt)
CA (1) CA3068198A1 (pt)
DK (1) DK3649257T3 (pt)
ES (1) ES2920280T3 (pt)
PL (1) PL3649257T3 (pt)
PT (1) PT3649257T (pt)
WO (1) WO2019008148A1 (pt)
ZA (1) ZA201908614B (pt)

Families Citing this family (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2019008167A1 (en) 2017-07-07 2019-01-10 Nipd Genetics Public Company Limited MULTIPLEXED PARALLEL ANALYSIS ENRICHED IN TARGET FOR RISK ASSESSMENT FOR GENETIC DISORDERS
US11649500B2 (en) 2017-07-07 2023-05-16 Nipd Genetics Public Company Limited Target-enriched multiplexed parallel analysis for assessment of fetal DNA samples
CN113621692B (zh) * 2021-10-12 2022-02-22 北京求臻医疗器械有限公司 人类fgfr1基因拷贝数变异核酸标准物质及其制备方法、及试剂盒

Family Cites Families (14)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP2423334A3 (en) 2006-02-02 2012-04-18 The Board of Trustees of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
US20080194414A1 (en) * 2006-04-24 2008-08-14 Albert Thomas J Enrichment and sequence analysis of genomic regions
WO2008027548A2 (en) * 2006-09-01 2008-03-06 Dana-Farber Cancer Institute, Inc. Microarray-based global chromatin structure mapping
EP3751005A3 (en) 2008-09-20 2021-02-24 The Board of Trustees of the Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US20110039304A1 (en) * 2009-08-12 2011-02-17 President And Fellows Of Harvard College Methods to Generate Oligonucleotide Pools and Enrich Target Nucleic Acid Sequences
CN102782156A (zh) * 2009-12-31 2012-11-14 文塔纳医疗系统公司 用于生成独特特异性核酸探针的方法
WO2011090558A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Simultaneous determination of aneuploidy and fetal fraction
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US20130123120A1 (en) * 2010-05-18 2013-05-16 Natera, Inc. Highly Multiplex PCR Methods and Compositions
EP2902500B1 (en) * 2011-02-09 2017-01-11 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20150203907A1 (en) * 2014-01-17 2015-07-23 Florida State University Research Foundation Genome capture and sequencing to determine genome-wide copy number variation
GB201414451D0 (en) * 2014-08-14 2014-10-01 Oxford Gene Technology Operations Ltd Hybridisation column for nucleic acid enrichment
US11408024B2 (en) * 2014-09-10 2022-08-09 Molecular Loop Biosciences, Inc. Methods for selectively suppressing non-target sequences
WO2016189388A1 (en) 2015-05-22 2016-12-01 Nipd Genetics Ltd Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing

Also Published As

Publication number Publication date
EP3649257A1 (en) 2020-05-13
EP3649257B1 (en) 2022-03-30
ZA201908614B (en) 2022-07-27
WO2019008148A9 (en) 2019-05-16
CA3068198A1 (en) 2019-01-10
PL3649257T3 (pl) 2022-07-18
DK3649257T3 (da) 2022-07-04
ES2920280T3 (es) 2022-08-02
US20200157602A1 (en) 2020-05-21
AU2018296568A1 (en) 2020-01-16
WO2019008148A1 (en) 2019-01-10

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