PT3596233T - Métodos e processos para avaliação de mosaicismo genético - Google Patents

Métodos e processos para avaliação de mosaicismo genético

Info

Publication number
PT3596233T
PT3596233T PT187154521T PT18715452T PT3596233T PT 3596233 T PT3596233 T PT 3596233T PT 187154521 T PT187154521 T PT 187154521T PT 18715452 T PT18715452 T PT 18715452T PT 3596233 T PT3596233 T PT 3596233T
Authority
PT
Portugal
Prior art keywords
mosaicist
genetic
evaluation
processes
methods
Prior art date
Application number
PT187154521T
Other languages
English (en)
Original Assignee
Sequenom Inc
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 Sequenom Inc filed Critical Sequenom Inc
Publication of PT3596233T publication Critical patent/PT3596233T/pt

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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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • 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
    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • 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
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
    • Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
    • Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
    • Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Genetics & Genomics (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
PT187154521T 2017-03-17 2018-03-19 Métodos e processos para avaliação de mosaicismo genético PT3596233T (pt)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201762473074P 2017-03-17 2017-03-17

Publications (1)

Publication Number Publication Date
PT3596233T true PT3596233T (pt) 2022-08-22

Family

ID=61874050

Family Applications (1)

Application Number Title Priority Date Filing Date
PT187154521T PT3596233T (pt) 2017-03-17 2018-03-19 Métodos e processos para avaliação de mosaicismo genético

Country Status (7)

Country Link
US (1) US12421550B2 (pt)
EP (2) EP3998350B1 (pt)
JP (2) JP7370862B2 (pt)
CA (1) CA3056118A1 (pt)
IL (2) IL317916A (pt)
PT (1) PT3596233T (pt)
WO (1) WO2018170511A1 (pt)

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US20240395357A1 (en) * 2019-10-31 2024-11-28 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
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US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN111508559B (zh) * 2020-04-21 2021-08-13 北京橡鑫生物科技有限公司 检测目标区域cnv的方法及装置
CN116018646A (zh) * 2020-05-22 2023-04-25 阿克图尔公司 用于表征无细胞核酸片段的方法
US20210398617A1 (en) * 2020-06-19 2021-12-23 Tempus Labs, Inc. Molecular response and progression detection from circulating cell free dna
US20220215900A1 (en) * 2021-01-07 2022-07-07 Tempus Labs, Inc. Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics
CN113011100B (zh) * 2021-03-29 2024-05-17 山东理工大学 一种基于多元非线性拟合和bp神经网络的磨削粗糙度预测方法
JP2024515565A (ja) * 2021-04-08 2024-04-10 フレッド ハッチンソン キャンサー センター ヌクレオソーム保護およびクロマチンアクセシビリティを調査するためのセルフリーｄｎａ配列データ解析法
US20220344001A1 (en) * 2021-04-12 2022-10-27 Zeljko Jovan Dzakula System and Method for Reduction of Technical Variability and Extraction of Biological Signal from Nucleic Acid Sequencing Data
CN113436678A (zh) * 2021-07-07 2021-09-24 哈尔滨因极科技有限公司 一种基于滤波降噪的基因组结构变异检测方法
CN117476101B (zh) * 2023-11-22 2025-10-10 浙江大学 一种多组学单细胞测序数据区分恶性细胞的方法、系统、设备和介质

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