BR112013018139A8 - Método para processar dados genômicos de um indivíduo, uso de informação de sequência genômica, opcionalmente na combinação com informação de expressão de gene, apoio à decisão clínica e sistema de armazenamento e sistema - Google Patents

Método para processar dados genômicos de um indivíduo, uso de informação de sequência genômica, opcionalmente na combinação com informação de expressão de gene, apoio à decisão clínica e sistema de armazenamento e sistema

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Publication number
BR112013018139A8
BR112013018139A8 BR112013018139A BR112013018139A BR112013018139A8 BR 112013018139 A8 BR112013018139 A8 BR 112013018139A8 BR 112013018139 A BR112013018139 A BR 112013018139A BR 112013018139 A BR112013018139 A BR 112013018139A BR 112013018139 A8 BR112013018139 A8 BR 112013018139A8
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BR
Brazil
Prior art keywords
genomic sequence
information
individual
sequence information
gene expression
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BR112013018139A
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English (en)
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BR112013018139A2 (pt
Inventor
Vardhan Makkapati Vishnu
Dimitrova Nevenka
Singh Randeep
Kumar Jaglan Sunil
Original Assignee
Koninklijke Philips Electronics Nv
Koninklijke Philips Nv
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Application filed by Koninklijke Philips Electronics Nv, Koninklijke Philips Nv filed Critical Koninklijke Philips Electronics Nv
Publication of BR112013018139A2 publication Critical patent/BR112013018139A2/pt
Publication of BR112013018139A8 publication Critical patent/BR112013018139A8/pt

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    • 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
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • G16B20/40—Population genetics; Linkage disequilibrium

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  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • Medical Informatics (AREA)
  • Biophysics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

MÉTODO PARA PROCESSAR DADOS GENÔMICOS DE UM INDIVÍDUO, USO DE INFORMAÇÃO DE SEQUÊNCIA GENÔMICA, OPCIONALMENTE NA COMBINAÇÃO COM INFORMAÇÃO DE EXPRESSÃO DE GENE, APOIO À A presente invenção refere-se a um método para processar dados genômicos de um indivíduo compreendendo (a) obter uma sequência genômica do indivíduo; (b) reduzir a compexidade e/ou quantidade da informação de sequência genômica; e (c) armazenar a informação de sequência genômica da etapa (b) em uma forma rapidamente recuperável. A presente invenção também se refere a um método em que a etapa de redução da complexidade e/ou quantidade da informação de sequência genômica é realizada cortando a dfita informação de sequência genômica exceto para dados de assinatura pertencentes a uma doença ou distúrbio, ou alinhando uma sequência genômica do indivíduo com uma sequência de referência compreendendo dados de assinatura pertencentes a uma doença ou distúrbio. Além disso, a invenção refere-se a um método em que o uso de uma informação genética funcional do indivíduo, em particular dados de expressão do gene está incluindo, bem como a um método, em que a informação é codificada em matrizes e decodificada e representa com base em processos de cadeia de Markov. A informação obtida também pode ser usada para diagnosticar, detectar, monitorar ou prognosticar uma doença e/ou para a preparação de uma história molecular do indivíduo. Além disso, é provido um apoio à decisão clínica correspondente e sistema de armazenamento, prefrencialmente na forma de um sistema de comunicação e arquivamento de imagem eletrônica/dados.
BR112013018139A 2011-01-19 2012-01-19 Método para processar dados genômicos de um indivíduo, uso de informação de sequência genômica, opcionalmente na combinação com informação de expressão de gene, apoio à decisão clínica e sistema de armazenamento e sistema BR112013018139A8 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201161434017P 2011-01-19 2011-01-19
PCT/IB2012/050255 WO2012098515A1 (en) 2011-01-19 2012-01-19 Method for processing genomic data

Publications (2)

Publication Number Publication Date
BR112013018139A2 BR112013018139A2 (pt) 2016-11-08
BR112013018139A8 true BR112013018139A8 (pt) 2018-02-06

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BR112013018139A BR112013018139A8 (pt) 2011-01-19 2012-01-19 Método para processar dados genômicos de um indivíduo, uso de informação de sequência genômica, opcionalmente na combinação com informação de expressão de gene, apoio à decisão clínica e sistema de armazenamento e sistema

Country Status (7)

Country Link
US (1) US20140229495A1 (pt)
EP (1) EP2666115A1 (pt)
JP (1) JP6420543B2 (pt)
CN (2) CN111192634A (pt)
BR (1) BR112013018139A8 (pt)
RU (1) RU2013138422A (pt)
WO (1) WO2012098515A1 (pt)

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Also Published As

Publication number Publication date
BR112013018139A2 (pt) 2016-11-08
CN111192634A (zh) 2020-05-22
EP2666115A1 (en) 2013-11-27
US20140229495A1 (en) 2014-08-14
JP6420543B2 (ja) 2018-11-07
RU2013138422A (ru) 2015-02-27
WO2012098515A1 (en) 2012-07-26
CN103329138A (zh) 2013-09-25
JP2014508994A (ja) 2014-04-10

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B25G Requested change of headquarter approved

Owner name: KONINKLIJKE PHILIPS N.V. (NL)

B08K Patent lapsed as no evidence of payment of the annual fee has been furnished to inpi [chapter 8.11 patent gazette]