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1. WO2015028576 - HAPLOTYPING AND COPY NUMBER TYPING USING POLYMORPHIC VARIANT ALLELIC FREQUENCIES

Publication Number WO/2015/028576
Publication Date 05.03.2015
International Application No. PCT/EP2014/068315
International Filing Date 28.08.2014
IPC
G06F 19/18 2011.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
19Digital computing or data processing equipment or methods, specially adapted for specific applications
10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G06F 19/26 2011.01
GPHYSICS
06COMPUTING; CALCULATING OR COUNTING
FELECTRIC DIGITAL DATA PROCESSING
19Digital computing or data processing equipment or methods, specially adapted for specific applications
10Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
26for data visualisation, e.g. graphics generation, display of maps or networks or other visual representations
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
G16B 45/00
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
45ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
G16B 50/00
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
50ICT programming tools or database systems specially adapted for bioinformatics
Applicants
  • KATHOLIEKE UNIVERSITEIT LEUVEN [BE]/[BE]
Inventors
  • ZAMANI ESTEKI, Masoud
  • VERMEESCH, Joris
  • VOET, Thierry
Agents
  • LAENEN, Bart
Priority Data
1318369.417.10.2013GB
61/871,22828.08.2013US
61/915,40612.12.2013US
61/960,92230.09.2013US
Publication Language English (EN)
Filing Language English (EN)
Designated States
Title
(EN) HAPLOTYPING AND COPY NUMBER TYPING USING POLYMORPHIC VARIANT ALLELIC FREQUENCIES
(FR) HAPLOTYPAGE ET TYPAGE DU NOMBRE DE COPIES À L'AIDE DE FRÉQUENCES D'ALLÈLES DE VARIANT POLYMORPHIQUE
Abstract
(EN)
The present invention provides a method for the analysis of genetic material of a subject, said method comprising: - obtaining continuous polymorphic variant allele frequency (PVAF) values of genetic material of a subject; - obtaining genotype information of a first and second parent; - categorizing the continuous PVAF values in a category corresponding to the first parent based on the genotype information of the first parent and second parent; - segmenting said categorized PVAF values; and - providing the segmented PVAF values to indicate a genetic anomaly in the genetic material of the subject and/or inheritance of the genetic material of the subject.
(FR)
La présente invention concerne un procédé qui permet d'effectuer l'analyse de matériau génétique d'un sujet, ledit procédé comprenant les étapes consistant à :-obtenir des valeurs de fréquence d'allèle de variant polymorphe (PVAF) continues du matériau génétique d'un sujet;-obtenir des informations génotypiques d'un premier et d'un second parent; -catégoriser les valeurs PVAF continues dans une catégorie correspondant au premier parent sur la base des informations génotypiques du premier parent et du second parent; segmenter lesdites valeurs PVAF catégorisées; et -produire les valeurs PVAF segmentées pour indiquer une anomalie génétique dans le matériau génétique du sujet et/ou l'héritage du matériel génétique du sujet.
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