BR112023002772A2 - Analisador de dna com biblioteca de escadas alelicas sintéticas - Google Patents

Analisador de dna com biblioteca de escadas alelicas sintéticas

Info

Publication number
BR112023002772A2
BR112023002772A2 BR112023002772A BR112023002772A BR112023002772A2 BR 112023002772 A2 BR112023002772 A2 BR 112023002772A2 BR 112023002772 A BR112023002772 A BR 112023002772A BR 112023002772 A BR112023002772 A BR 112023002772A BR 112023002772 A2 BR112023002772 A2 BR 112023002772A2
Authority
BR
Brazil
Prior art keywords
biological sample
synthetic
allelic
alleles
fragment
Prior art date
Application number
BR112023002772A
Other languages
English (en)
Inventor
Vangbo Mattias
Original Assignee
Life Technologies Corp
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 Life Technologies Corp filed Critical Life Technologies Corp
Publication of BR112023002772A2 publication Critical patent/BR112023002772A2/pt

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Classifications

    • 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
    • G16B10/00ICT specially adapted for evolutionary bioinformatics, e.g. phylogenetic tree construction or analysis
    • 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
    • BPERFORMING OPERATIONS; TRANSPORTING
    • B01PHYSICAL OR CHEMICAL PROCESSES OR APPARATUS IN GENERAL
    • B01LCHEMICAL OR PHYSICAL LABORATORY APPARATUS FOR GENERAL USE
    • B01L7/00Heating or cooling apparatus; Heat insulating devices
    • B01L7/52Heating or cooling apparatus; Heat insulating devices with provision for submitting samples to a predetermined sequence of different temperatures, e.g. for treating nucleic acid samples
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09Recombinant DNA-technology
    • C12N15/10Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034Isolating an individual clone by screening libraries
    • C12N15/1089Design, preparation, screening or analysis of libraries using computer algorithms
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N27/00Investigating or analysing materials by the use of electric, electrochemical, or magnetic means
    • G01N27/26Investigating or analysing materials by the use of electric, electrochemical, or magnetic means by investigating electrochemical variables; by using electrolysis or electrophoresis
    • G01N27/416Systems
    • G01N27/447Systems using electrophoresis
    • G01N27/44704Details; Accessories
    • G01N27/44717Arrangements for investigating the separated zones, e.g. localising zones
    • G01N27/44721Arrangements for investigating the separated zones, e.g. localising zones by optical means
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N27/00Investigating or analysing materials by the use of electric, electrochemical, or magnetic means
    • G01N27/26Investigating or analysing materials by the use of electric, electrochemical, or magnetic means by investigating electrochemical variables; by using electrolysis or electrophoresis
    • G01N27/416Systems
    • G01N27/447Systems using electrophoresis
    • G01N27/44756Apparatus specially adapted therefor
    • G01N27/44791Microapparatus
    • 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
    • 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
    • G16B35/00ICT specially adapted for in silico combinatorial libraries of nucleic acids, proteins or peptides
    • G16B35/20Screening of libraries
    • BPERFORMING OPERATIONS; TRANSPORTING
    • B01PHYSICAL OR CHEMICAL PROCESSES OR APPARATUS IN GENERAL
    • B01LCHEMICAL OR PHYSICAL LABORATORY APPARATUS FOR GENERAL USE
    • B01L2300/00Additional constructional details
    • B01L2300/18Means for temperature control
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16HHEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/40ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biophysics (AREA)
  • Medical Informatics (AREA)
  • Genetics & Genomics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • General Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Electrochemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Pathology (AREA)
  • Organic Chemistry (AREA)
  • Library & Information Science (AREA)
  • Biomedical Technology (AREA)
  • Clinical Laboratory Science (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Dispersion Chemistry (AREA)
  • Microbiology (AREA)
  • Plant Pathology (AREA)
  • Physiology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Epidemiology (AREA)
  • Primary Health Care (AREA)
  • Public Health (AREA)

Abstract

É descrito um método para testar uma amostra biológica compreendendo moléculas de ácido desoxirribonucleico (DNA) quanto à presença de uma pluralidade de alelos, em que os fragmentos de DNA obtidos usando a amostra biológica e correspondendo a diferentes alelos têm tamanhos de fragmentos diferentes. Um instrumento de eletroforese capilar (CE) é usado para obter dados de tamanho de fragmento de teste para a amostra biológica. Um modelo pré-computado é usado para determinar dinamicamente uma ou mais escadas alélicas sintéticas, onde o modelo pré-computado é derivado por meio da análise de uma pluralidade de conjuntos de dados de dimensionamento de fragmentos obtidos de uma pluralidade de corridas de amostra de escada alélica anteriores conduzidas usando instrumentos CE. A uma ou mais escadas alélicas sintéticas ou derivadas experimentalmente são usadas para encontrar um ajuste suficiente para os dados de tamanho do fragmento de teste para identificar quais dentre a pluralidade de alelos estão presentes na amostra biológica. A análise estatística pode compreender uma análise de componente principal incluindo dois componentes principais.
BR112023002772A 2020-08-15 2021-08-13 Analisador de dna com biblioteca de escadas alelicas sintéticas BR112023002772A2 (pt)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US202063066218P 2020-08-15 2020-08-15
US202063067289P 2020-08-18 2020-08-18
PCT/US2021/046020 WO2022040053A1 (en) 2020-08-15 2021-08-13 Dna analyzer with synthetic allelic ladder library

Publications (1)

Publication Number Publication Date
BR112023002772A2 true BR112023002772A2 (pt) 2023-05-02

Family

ID=77655683

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112023002772A BR112023002772A2 (pt) 2020-08-15 2021-08-13 Analisador de dna com biblioteca de escadas alelicas sintéticas

Country Status (8)

Country Link
US (1) US20220051754A1 (pt)
EP (1) EP4196986A1 (pt)
JP (1) JP2023538043A (pt)
KR (1) KR20230053647A (pt)
CN (1) CN116134526A (pt)
BR (1) BR112023002772A2 (pt)
CA (1) CA3191872A1 (pt)
WO (1) WO2022040053A1 (pt)

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3371330A4 (en) * 2015-11-03 2019-06-26 Asuragen, Inc. METHODS OF DETECTING THE DIMENSION OF A NUCLEIC ACID OF REPETITION SEQUENCES

Also Published As

Publication number Publication date
CN116134526A (zh) 2023-05-16
KR20230053647A (ko) 2023-04-21
US20220051754A1 (en) 2022-02-17
CA3191872A1 (en) 2022-02-24
WO2022040053A1 (en) 2022-02-24
EP4196986A1 (en) 2023-06-21
JP2023538043A (ja) 2023-09-06

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