PL3649257T3 - Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej - Google Patents

Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej

Info

Publication number
PL3649257T3
PL3649257T3 PL18745508.4T PL18745508T PL3649257T3 PL 3649257 T3 PL3649257 T3 PL 3649257T3 PL 18745508 T PL18745508 T PL 18745508T PL 3649257 T3 PL3649257 T3 PL 3649257T3
Authority
PL
Poland
Prior art keywords
enrichment
genomic regions
parallel analysis
targeted genomic
multiplexed parallel
Prior art date
Application number
PL18745508.4T
Other languages
English (en)
Inventor
George Koumbaris
Marios IOANNIDES
Elena Kypri
Acilleas ACHILLEOS
Petros Mina
Kyriakos TSANGARAS
Philippos PATSALIS
Original Assignee
Nipd Genetics Public Company Limited
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 Limited filed Critical Nipd Genetics Public Company Limited
Publication of PL3649257T3 publication Critical patent/PL3649257T3/pl

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
    • C12Q1/6806—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 OR CALCULATING; 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)
PL18745508.4T 2017-07-07 2018-07-06 Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej PL3649257T3 (pl)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762529667P 2017-07-07 2017-07-07
PCT/EP2018/068402 WO2019008148A1 (en) 2017-07-07 2018-07-06 ENRICHMENT OF TARGETED GENOMIC REGIONS FOR MULTIPLEXED PARALLEL ANALYSIS

Publications (1)

Publication Number Publication Date
PL3649257T3 true PL3649257T3 (pl) 2022-07-18

Family

ID=63012984

Family Applications (1)

Application Number Title Priority Date Filing Date
PL18745508.4T PL3649257T3 (pl) 2017-07-07 2018-07-06 Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej

Country Status (11)

Country Link
US (1) US12270069B2 (pl)
EP (1) EP3649257B1 (pl)
AU (1) AU2018296568B2 (pl)
CA (1) CA3068198A1 (pl)
CY (1) CY1125226T1 (pl)
DK (1) DK3649257T3 (pl)
ES (1) ES2920280T3 (pl)
PL (1) PL3649257T3 (pl)
PT (1) PT3649257T (pl)
WO (1) WO2019008148A1 (pl)
ZA (1) ZA201908614B (pl)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES3074838T3 (es) 2017-07-07 2026-07-23 Medicover Public Co Ltd Análisis paralelo multiplexado con enriquecimiento de blancos para la evaluación de biomarcadores tumorales
PL3649257T3 (pl) 2017-07-07 2022-07-18 Nipd Genetics Public Company Limited Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej
PL4116432T3 (pl) 2017-07-07 2026-07-06 Medicover Public Co Ltd Wzbogacona o cel multipleksowa analiza równoległa do oceny próbek dna płodowego
AU2018296673B2 (en) 2017-07-07 2025-01-02 Medicover Public Co Ltd Target-enriched multiplexed parallel analysis for assessment of risk for genetic conditions
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
US12694331B2 (en) * 2022-09-13 2026-07-28 International Business Machines Corporation Sufficiency assessment of machine learning models through maximum deviation

Family Cites Families (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
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
WO2010033578A2 (en) 2008-09-20 2010-03-25 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
JP5838169B2 (ja) * 2009-12-31 2016-01-06 ヴェンタナ メディカル システムズ, インク. 一意的に特異的核酸プローブを生成するための方法
ES2704701T3 (es) 2010-01-19 2019-03-19 Verinata Health Inc Nuevo protocolo de preparación de bibliotecas de secuenciación
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
EP3760731A1 (en) 2011-02-09 2021-01-06 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
ES2790533T3 (es) 2015-05-22 2020-10-28 Nipd Genetics Public Company Ltd Análisis paralelo múltiplex de regiones genómicas blanco para análisis prenatales no invasivos
PL4116432T3 (pl) 2017-07-07 2026-07-06 Medicover Public Co Ltd Wzbogacona o cel multipleksowa analiza równoległa do oceny próbek dna płodowego
PL3649257T3 (pl) 2017-07-07 2022-07-18 Nipd Genetics Public Company Limited Wzbogacanie docelowych regionów genomowych do multipleksowej analizy równoległej

Also Published As

Publication number Publication date
PT3649257T (pt) 2022-05-19
US20200157602A1 (en) 2020-05-21
ES2920280T3 (es) 2022-08-02
AU2018296568B2 (en) 2024-11-14
CY1125226T1 (el) 2024-09-20
DK3649257T3 (da) 2022-07-04
EP3649257B1 (en) 2022-03-30
US12270069B2 (en) 2025-04-08
WO2019008148A1 (en) 2019-01-10
ZA201908614B (en) 2022-07-27
WO2019008148A9 (en) 2019-05-16
CA3068198A1 (en) 2019-01-10
EP3649257A1 (en) 2020-05-13
AU2018296568A1 (en) 2020-01-16

Similar Documents

Publication Publication Date Title
ZA201908614B (en) Enrichment of targeted genomic regions for multiplexed parallel analysis
LT3263715T (lt) Pavienių ląstelių transkriptomo analizės būdas
PT3882357T (pt) Métodos e composições para análise de ácidos nucleicos
ZA201707850B (en) Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
GB2544838B (en) Elemental analysis of organic samples
SG10202011241TA (en) Method of identifying musk compounds
MA45793A (fr) Composés et procédés de stimulation de la myélinisation
ZA201708436B (en) Diaryl macrocycle polymorph
GB201616445D0 (en) Method of targeted mass spectrometric analysis
GB201717171D0 (en) Multiplexed analysis of nucleic acid hybridization thermodynamics using integrated arrays
ZA201708386B (en) Treatment for multiple myeloma (mm)
SG11201707611SA (en) Forensic analysis
EP3271096C0 (en) PROCESS FOR PRODUCING FLUTES
PL3216916T3 (pl) Sposób uszlachetniania skóry wyprawionej
EP3265100A4 (en) PROCESS FOR THE PREPARATION OF FLUOROCHETOLIDES
SG11201608285WA (en) Controls for implementing multiplex analysis methods
ZA201908558B (en) Target-enriched multiplexed parallel analysis for assessment of risk for genetic conditions
SG11202106810UA (en) Methods for targeted complementary dna enrichment
GB201615818D0 (en) Methods of systems for analysis
ZA201800978B (en) Baffle structure for channel
GB2549493B (en) Channel system
GB2539492B (en) Retainer for cable raceway
GB201511845D0 (en) Analysis apparatus
GB201403753D0 (en) Sample introduction system for mass spectrometers
GB201510237D0 (en) Analysis of t-cell monotypia