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1. WO2011008769 - ORTHOLOGOUS PHENOTYPES AND NON-OBVIOUS HUMAN DISEASE MODELS

Publication Number WO/2011/008769
Publication Date 20.01.2011
International Application No. PCT/US2010/041840
International Filing Date 13.07.2010
IPC
C12Q 1/68 2006.01
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING 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
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
G06F 17/00 2006.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
17Digital computing or data processing equipment or methods, specially adapted for specific functions
CPC
G16B 20/00
GPHYSICS
16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
20ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
Applicants
  • BOARD OF REGENTS, THE UNIVERSITY OF TEXAS SYSTEM [US]/[US] (AllExceptUS)
  • MARCOTTE, Edward [US]/[US] (UsOnly)
  • MCGARY, Kriston [US]/[US] (UsOnly)
  • WALLINGFORD, John [US]/[US] (UsOnly)
  • PARK, Tae, Joo [KR]/[US] (UsOnly)
  • CHA, Hye, Ji [KR]/[US] (UsOnly)
  • WOODS, John, O. [US]/[US] (UsOnly)
Inventors
  • MARCOTTE, Edward
  • MCGARY, Kriston
  • WALLINGFORD, John
  • PARK, Tae, Joo
  • CHA, Hye, Ji
  • WOODS, John, O.
Agents
  • CHALKER, Daniel, J.
Priority Data
61/225,42714.07.2009US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) ORTHOLOGOUS PHENOTYPES AND NON-OBVIOUS HUMAN DISEASE MODELS
(FR) PHÉNOTYPES ORTHOLOGUES ET MODÈLES DE MALADIE HUMAINE NON ÉVIDENTS
Abstract
(EN)
A method for the quantification of equivalence between mutational phenotypes to develop non-obvious human disease models is described herein. The present inventors discover candidate genes for diseases of interest by : first, identifying orthologous phenotypes (called phenologs) involving the phenotype of interest (the first phenotype), in which a set of genes is associated with the first phenotype in the first organism, a set of genes is associated with a second phenotype in a second organism, the first and second phenotypes not having one or more common characteristics, and the second phenotype is selected such that at least one gene belongs to both the first and second phenotype gene sets; second, selecting from the second organism one or more second phenotype genes, other than the genes known to overlap the first and second phenotypes, as candidates for also belonging to the first phenotype in the first organism.
(FR)
L'invention porte sur un procédé pour la quantification d'une équivalence entre des phénotypes mutationnels pour développer des modèles de maladie humaine non évidents. Les présents inventeurs ont découvert des gènes candidats pour des maladies d'intérêt par : tout d'abord, identification de phénotypes orthologues (appelés phénologues) mettant en jeu le phénotype d'intérêt (le premier phénotype), dans lequel un ensemble de gènes est associé au premier phénotype dans le premier organisme, un ensemble de gènes est associé à un second phénotype dans un second organisme, les premier et second phénotypes n'ayant pas une ou plusieurs caractéristiques communes, et le second phénotype est sélectionné de telle sorte qu'au moins un gène appartient à la fois aux premier et second ensembles de gènes de phénotype ; ensuite, par sélection à partir du second organisme d'un ou plusieurs seconds gènes de phénotype, autres que les gènes connus pour recouvrir les premier et second phénotypes, en tant que candidats pour appartenir également au premier phénotype dans le premier organisme.
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