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MX2015011901A - Sistemas y metodos para reporte de analisis de variante genomica humana asociada con enfermedad. - Google Patents

Sistemas y metodos para reporte de analisis de variante genomica humana asociada con enfermedad.

Info

Publication number
MX2015011901A
MX2015011901A MX2015011901A MX2015011901A MX2015011901A MX 2015011901 A MX2015011901 A MX 2015011901A MX 2015011901 A MX2015011901 A MX 2015011901A MX 2015011901 A MX2015011901 A MX 2015011901A MX 2015011901 A MX2015011901 A MX 2015011901A
Authority
MX
Mexico
Prior art keywords
systems
methods
disease
reporting
disease associated
Prior art date
Application number
MX2015011901A
Other languages
English (en)
Inventor
Fanqing Chen
Han Wu
Original Assignee
Basetra Medical Technology Co Ltd
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 Basetra Medical Technology Co Ltd filed Critical Basetra Medical Technology Co Ltd
Publication of MX2015011901A publication Critical patent/MX2015011901A/es

Links

Classifications

    • 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
    • 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
    • G16B50/30—Data warehousing; Computing architectures

Landscapes

  • Engineering & Computer Science (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

Se describen sistemas y métodos para reporte y análisis de variante genómica humana asociada con enfermedad. Los sistemas y métodos incluyen recibir y extraer información de variante relacionada con enfermedad; almacenar la información de variante relacionada con enfermedad en una primera estructura de datos. Además, el sistema y métodos incluyen identificar una pluralidad de variantes genómicas y determinar una o más probabilidades de enfermedad asociada con al menos una o más de la pluralidad de variantes genómicas. Para al menos una o más de la pluralidad de variantes genómicas que tiene al menos una probabilidad de enfermedad que es mayor que un umbral, los sistemas y métodos también pueden obtener la validación de la al menos una de la pluralidad de variantes genómicas utilizando el módulo de validación. Se puede crear un reporte que incluya al menos una enfermedad y la probabilidad de la enfermedad.
MX2015011901A 2013-03-15 2014-02-25 Sistemas y metodos para reporte de analisis de variante genomica humana asociada con enfermedad. MX2015011901A (es)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361792522P 2013-03-15 2013-03-15
US14/161,981 US20140278133A1 (en) 2013-03-15 2014-01-23 Systems and methods for disease associated human genomic variant analysis and reporting
PCT/US2014/018424 WO2014149437A1 (en) 2013-03-15 2014-02-25 Systems and methods for disease associated human genomic variant analysis and reporting

Publications (1)

Publication Number Publication Date
MX2015011901A true MX2015011901A (es) 2016-05-16

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
MX2015011901A MX2015011901A (es) 2013-03-15 2014-02-25 Sistemas y metodos para reporte de analisis de variante genomica humana asociada con enfermedad.

Country Status (10)

Country Link
US (1) US20140278133A1 (es)
EP (1) EP2973121A4 (es)
JP (2) JP6231654B2 (es)
KR (1) KR20160008520A (es)
CN (1) CN105229649B (es)
AU (1) AU2014238160A1 (es)
CA (1) CA2900551A1 (es)
HK (1) HK1219789A1 (es)
MX (1) MX2015011901A (es)
WO (1) WO2014149437A1 (es)

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CN110164504B (zh) * 2019-05-27 2021-04-02 复旦大学附属儿科医院 二代测序数据的处理方法、装置及电子设备
JP6953586B2 (ja) 2019-06-19 2021-10-27 シスメックス株式会社 患者検体の核酸配列の解析方法、解析結果の提示方法、提示装置、提示プログラム、及び患者検体の核酸配列の解析システム
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Also Published As

Publication number Publication date
JP2018037093A (ja) 2018-03-08
HK1219789A1 (zh) 2017-04-13
EP2973121A4 (en) 2016-11-16
US20140278133A1 (en) 2014-09-18
EP2973121A1 (en) 2016-01-20
CN105229649A (zh) 2016-01-06
JP2016516237A (ja) 2016-06-02
JP6231654B2 (ja) 2017-11-15
CA2900551A1 (en) 2014-09-25
AU2014238160A1 (en) 2015-09-17
WO2014149437A1 (en) 2014-09-25
KR20160008520A (ko) 2016-01-22
CN105229649B (zh) 2018-04-13

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