EP2776962A4 - Verfahren und systeme zur identifizierung kausaler genomvarianten - Google Patents

Verfahren und systeme zur identifizierung kausaler genomvarianten

Info

Publication number
EP2776962A4
EP2776962A4 EP12847098.6A EP12847098A EP2776962A4 EP 2776962 A4 EP2776962 A4 EP 2776962A4 EP 12847098 A EP12847098 A EP 12847098A EP 2776962 A4 EP2776962 A4 EP 2776962A4
Authority
EP
European Patent Office
Prior art keywords
identification
systems
methods
genomic variants
causal
Prior art date
Legal status (The legal status 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 status listed.)
Ceased
Application number
EP12847098.6A
Other languages
English (en)
French (fr)
Other versions
EP2776962A1 (de
Inventor
Douglas E Bassett Jr
Daniel R Richards
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Qiagen Redwood City Inc
Original Assignee
Ingenuity Systems 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 Ingenuity Systems Inc filed Critical Ingenuity Systems Inc
Priority to EP20197880.6A priority Critical patent/EP3836149A1/de
Publication of EP2776962A1 publication Critical patent/EP2776962A1/de
Publication of EP2776962A4 publication Critical patent/EP2776962A4/de
Ceased legal-status Critical Current

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
    • 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
    • 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
    • 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
    • G16B20/30—Detection of binding sites or motifs
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biophysics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Biotechnology (AREA)
  • Evolutionary Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Databases & Information Systems (AREA)
  • Bioethics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Management, Administration, Business Operations System, And Electronic Commerce (AREA)
EP12847098.6A 2011-11-07 2012-11-06 Verfahren und systeme zur identifizierung kausaler genomvarianten Ceased EP2776962A4 (de)

Priority Applications (1)

Application Number Priority Date Filing Date Title
EP20197880.6A EP3836149A1 (de) 2011-11-07 2012-11-06 Verfahren und systeme zur identifizierung kausaler genomvarianten

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201161556758P 2011-11-07 2011-11-07
US201161556599P 2011-11-07 2011-11-07
PCT/US2012/063753 WO2013070634A1 (en) 2011-11-07 2012-11-06 Methods and systems for identification of causal genomic variants

Related Child Applications (1)

Application Number Title Priority Date Filing Date
EP20197880.6A Division EP3836149A1 (de) 2011-11-07 2012-11-06 Verfahren und systeme zur identifizierung kausaler genomvarianten

Publications (2)

Publication Number Publication Date
EP2776962A1 EP2776962A1 (de) 2014-09-17
EP2776962A4 true EP2776962A4 (de) 2015-12-02

Family

ID=48290486

Family Applications (2)

Application Number Title Priority Date Filing Date
EP12847098.6A Ceased EP2776962A4 (de) 2011-11-07 2012-11-06 Verfahren und systeme zur identifizierung kausaler genomvarianten
EP20197880.6A Pending EP3836149A1 (de) 2011-11-07 2012-11-06 Verfahren und systeme zur identifizierung kausaler genomvarianten

Family Applications After (1)

Application Number Title Priority Date Filing Date
EP20197880.6A Pending EP3836149A1 (de) 2011-11-07 2012-11-06 Verfahren und systeme zur identifizierung kausaler genomvarianten

Country Status (6)

Country Link
EP (2) EP2776962A4 (de)
JP (2) JP2015501974A (de)
CN (2) CN111710361A (de)
AU (3) AU2012335955A1 (de)
CA (1) CA2854832C (de)
WO (1) WO2013070634A1 (de)

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Also Published As

Publication number Publication date
JP2018081698A (ja) 2018-05-24
CN104094266A (zh) 2014-10-08
AU2020202267A1 (en) 2020-04-23
CN111710361A (zh) 2020-09-25
AU2020202267B2 (en) 2021-07-15
EP2776962A1 (de) 2014-09-17
AU2020202267A2 (en) 2020-09-03
CA2854832C (en) 2023-05-23
EP3836149A1 (de) 2021-06-16
AU2018203062A1 (en) 2018-05-17
JP6773631B2 (ja) 2020-10-21
CA2854832A1 (en) 2013-05-16
AU2012335955A1 (en) 2014-07-03
WO2013070634A1 (en) 2013-05-16
JP2015501974A (ja) 2015-01-19

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