CN110475874A - 脱靶序列在dna分析中的应用 - Google Patents

脱靶序列在dna分析中的应用 Download PDF

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Publication number
CN110475874A
CN110475874A CN201880018765.4A CN201880018765A CN110475874A CN 110475874 A CN110475874 A CN 110475874A CN 201880018765 A CN201880018765 A CN 201880018765A CN 110475874 A CN110475874 A CN 110475874A
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CN
China
Prior art keywords
target
dna
sample
probe
aneuploidy
Prior art date
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Pending
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CN201880018765.4A
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English (en)
Chinese (zh)
Inventor
贝努瓦·德沃热拉尔
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Agilent Technologies Inc
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Agilent Technologies Belgium SA NV
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Publication of CN110475874A publication Critical patent/CN110475874A/zh
Pending legal-status Critical Current

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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
    • C12Q1/6876—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
    • C12Q1/6869—Methods for sequencing
    • 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
    • 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
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • 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
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data 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
    • G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/10—Ontologies; Annotations
    • 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
    • G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
    • G16B50/30—Data warehousing; Computing architectures

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CN201880018765.4A 2017-04-18 2018-04-18 脱靶序列在dna分析中的应用 Pending CN110475874A (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
EP17166836 2017-04-18
EP17166836.1 2017-04-18
PCT/EP2018/059889 WO2018192967A1 (en) 2017-04-18 2018-04-18 Use of off-target sequences for dna analysis

Publications (1)

Publication Number Publication Date
CN110475874A true CN110475874A (zh) 2019-11-19

Family

ID=58549069

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201880018765.4A Pending CN110475874A (zh) 2017-04-18 2018-04-18 脱靶序列在dna分析中的应用

Country Status (6)

Country Link
US (1) US20200048715A1 (https=)
EP (2) EP3612644B1 (https=)
JP (1) JP7170711B2 (https=)
CN (1) CN110475874A (https=)
CA (1) CA3058845A1 (https=)
WO (1) WO2018192967A1 (https=)

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN119207553A (zh) * 2024-10-08 2024-12-27 上海唯可生物科技有限公司 一种基于靶向富集测序评估基因编辑脱靶风险的方法

Families Citing this family (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2024512372A (ja) * 2021-03-09 2024-03-19 ガーダント ヘルス， インコーポレイテッド オフターゲットポリヌクレオチド配列決定データに基づく腫瘍の存在の検出
CN114334007B (zh) * 2022-01-20 2024-10-18 腾讯科技（深圳）有限公司 基因脱靶预测模型训练方法、预测方法、装置及电子设备

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110201507A1 (en) * 2010-01-19 2011-08-18 Rava Richard P Sequencing methods and compositions for prenatal diagnoses
CN103946394A (zh) * 2011-10-18 2014-07-23 姆提普力科姆公司 胎儿染色体非整倍性诊断
US20140274740A1 (en) * 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
US20150066824A1 (en) * 2013-08-30 2015-03-05 Personalis, Inc. Methods and systems for genomic analysis

Family Cites Families (3)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11322224B2 (en) * 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
CN104640997B (zh) * 2012-04-06 2017-12-19 香港中文大学 通过使用靶向大规模并行测序的等位基因比率分析进行的胎儿三体性的非侵入性产前诊断
KR101721480B1 (ko) * 2016-06-02 2017-03-30 주식회사 랩 지노믹스 염색체 이상 검사 방법 및 시스템

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20110201507A1 (en) * 2010-01-19 2011-08-18 Rava Richard P Sequencing methods and compositions for prenatal diagnoses
CN103946394A (zh) * 2011-10-18 2014-07-23 姆提普力科姆公司 胎儿染色体非整倍性诊断
US20140274740A1 (en) * 2013-03-15 2014-09-18 Verinata Health, Inc. Generating cell-free dna libraries directly from blood
US20150066824A1 (en) * 2013-08-30 2015-03-05 Personalis, Inc. Methods and systems for genomic analysis

Non-Patent Citations (1)

* Cited by examiner, † Cited by third party
Title
EVANGELOS BELLOS等: "cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data", 《BIOINFORMATICS》 *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN119207553A (zh) * 2024-10-08 2024-12-27 上海唯可生物科技有限公司 一种基于靶向富集测序评估基因编辑脱靶风险的方法
CN119207553B (zh) * 2024-10-08 2025-10-10 上海唯可生物科技有限公司 一种基于靶向富集测序评估基因编辑脱靶风险的方法

Also Published As

Publication number Publication date
CA3058845A1 (en) 2018-10-25
US20200048715A1 (en) 2020-02-13
JP7170711B2 (ja) 2022-11-14
WO2018192967A1 (en) 2018-10-25
EP3988672A1 (en) 2022-04-27
EP3612644B1 (en) 2021-12-15
EP3612644A1 (en) 2020-02-26
JP2020517304A (ja) 2020-06-18
EP3988672B1 (en) 2023-08-23

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