PT4004236T - Método para análise de perda de heterozigotia (loh) após amplificação de todo o genoma por local de restrição determinístico (drs-wga) - Google Patents

Método para análise de perda de heterozigotia (loh) após amplificação de todo o genoma por local de restrição determinístico (drs-wga)

Info

Publication number
PT4004236T
PT4004236T PT207474792T PT20747479T PT4004236T PT 4004236 T PT4004236 T PT 4004236T PT 207474792 T PT207474792 T PT 207474792T PT 20747479 T PT20747479 T PT 20747479T PT 4004236 T PT4004236 T PT 4004236T
Authority
PT
Portugal
Prior art keywords
wga
heterozygosity
loh
drs
analysing
Prior art date
Application number
PT207474792T
Other languages
English (en)
Original Assignee
Menarini Silicon Biosystems Spa
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 Menarini Silicon Biosystems Spa filed Critical Menarini Silicon Biosystems Spa
Publication of PT4004236T publication Critical patent/PT4004236T/pt

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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
    • C12Q1/6869Methods for sequencing
    • 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
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • G16B30/10Sequence alignment; Homology search
    • 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
    • C12Q2521/00Reaction characterised by the enzymatic activity
    • C12Q2521/30Phosphoric diester hydrolysing, i.e. nuclease
    • C12Q2521/301Endonuclease
    • 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
    • C12Q2525/00Reactions involving modified oligonucleotides, nucleic acids, or nucleotides
    • C12Q2525/10Modifications characterised by
    • C12Q2525/191Modifications characterised by incorporating an adaptor
    • 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
    • C12Q2535/00Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122Massive parallel sequencing

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Pathology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)
PT207474792T 2019-07-30 2020-07-29 Método para análise de perda de heterozigotia (loh) após amplificação de todo o genoma por local de restrição determinístico (drs-wga) PT4004236T (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
IT102019000013335A IT201900013335A1 (it) 2019-07-30 2019-07-30 Metodo per analizzare la perdita di eterozigosi (loh) a seguito di amplificazione totale del genoma basata su un sito di restrizione deterministico (drs-wga)

Publications (1)

Publication Number Publication Date
PT4004236T true PT4004236T (pt) 2023-05-03

Family

ID=68733545

Family Applications (1)

Application Number Title Priority Date Filing Date
PT207474792T PT4004236T (pt) 2019-07-30 2020-07-29 Método para análise de perda de heterozigotia (loh) após amplificação de todo o genoma por local de restrição determinístico (drs-wga)

Country Status (13)

Country Link
US (1) US20230175053A1 (pt)
EP (1) EP4004236B1 (pt)
JP (1) JP7684277B2 (pt)
CN (1) CN114466936B (pt)
AU (1) AU2020322242B2 (pt)
CA (1) CA3149486A1 (pt)
DK (1) DK4004236T3 (pt)
ES (1) ES2944080T3 (pt)
FI (1) FI4004236T3 (pt)
IL (1) IL290176B2 (pt)
IT (1) IT201900013335A1 (pt)
PT (1) PT4004236T (pt)
WO (1) WO2021019459A1 (pt)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2021037016A1 (en) * 2019-08-30 2021-03-04 The Chinese University Of Hong Kong Methods for detecting absence of heterozygosity by low-pass genome sequencing
IT202100024101A1 (it) 2021-09-20 2023-03-20 Menarini Silicon Biosystems Spa Metodo per analizzare il grado di similarita' di almeno due campioni utilizzando amplificazione deterministica dell'intero genoma mediante siti di restrizione (drs-wga)
EP4605937A1 (en) 2022-10-19 2025-08-27 Vib Vzw Method of determining loss of heterozygosity status of a tumor
WO2025078387A1 (en) * 2023-10-10 2025-04-17 Vib Vzw Method of detecting loss of heterozygosity status of a tumor
WO2026083244A1 (en) 2024-10-14 2026-04-23 Menarini Silicon Biosystems S.P.A. Method for analysing the copy-number profile of a sample using deterministic restriction-site whole genome amplification (drs-wga)

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
IL141749A0 (en) 1998-09-18 2002-03-10 Micromet Ag Dna amplification of a single cell
EP1578994A2 (en) 2002-11-11 2005-09-28 Affymetrix, Inc. Methods for identifying dna copy number changes
BR112014015152A2 (pt) * 2011-12-21 2017-07-04 Myriad Genetics Inc métodos e materiais para a avaliação da perda de heterozigosidade
ITUA20162640A1 (it) * 2016-04-15 2017-10-15 Menarini Silicon Biosystems Spa Metodo e kit per la generazione di librerie di dna per sequenziamento massivo parallelo
EP3431611A1 (en) 2017-07-21 2019-01-23 Menarini Silicon Biosystems S.p.A. Improved method and kit for the generation of dna libraries for massively parallel sequencing
EP3723096A1 (en) * 2019-04-12 2020-10-14 European Molecular Biology Laboratory Comprehensive detection of single cell genetic structural variations
WO2021037016A1 (en) * 2019-08-30 2021-03-04 The Chinese University Of Hong Kong Methods for detecting absence of heterozygosity by low-pass genome sequencing
CN112885406B (zh) * 2020-04-16 2023-01-31 深圳裕策生物科技有限公司 检测hla杂合性缺失的方法及系统
EP3945525A1 (en) * 2020-07-27 2022-02-02 Sophia Genetics S.A. Methods for identifying chromosomal spatial instability such as homologous repair deficiency in low coverage next-generation sequencing data

Also Published As

Publication number Publication date
CA3149486A1 (en) 2021-02-04
AU2020322242B2 (en) 2026-01-22
IL290176A (en) 2022-03-01
IT201900013335A1 (it) 2021-01-30
WO2021019459A1 (en) 2021-02-04
EP4004236A1 (en) 2022-06-01
EP4004236B1 (en) 2023-02-15
IL290176B2 (en) 2025-06-01
CN114466936A (zh) 2022-05-10
DK4004236T3 (da) 2023-04-24
ES2944080T3 (es) 2023-06-19
FI4004236T3 (fi) 2023-05-05
JP7684277B2 (ja) 2025-05-27
IL290176B1 (en) 2025-02-01
AU2020322242A1 (en) 2022-03-24
CN114466936B (zh) 2025-01-21
US20230175053A1 (en) 2023-06-08
JP2022543585A (ja) 2022-10-13
KR20220070203A (ko) 2022-05-30

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