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1. (WO2015028576) HAPLOTYPING AND COPY NUMBER TYPING USING POLYMORPHIC VARIANT ALLELIC FREQUENCIES
Latest bibliographic data on file with the International Bureau   

Pub. No.: WO/2015/028576 International Application No.: PCT/EP2014/068315
Publication Date: 05.03.2015 International Filing Date: 28.08.2014
IPC:
G06F 19/18 (2011.01) ,G06F 19/26 (2011.01)
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18
for 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
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
26
for data visualisation, e.g. graphics generation, display of maps or networks or other visual representations
Applicants:
KATHOLIEKE UNIVERSITEIT LEUVEN [BE/BE]; KU Leuven R&D Waaistraat 6 bus 5105 B-3000 Leuven, BE
Inventors:
ZAMANI ESTEKI, Masoud; BE
VERMEESCH, Joris; BE
VOET, Thierry; BE
Agent:
LAENEN, Bart; BE
Priority Data:
1318369.417.10.2013GB
61/871,22828.08.2013US
61/915,40612.12.2013US
61/960,92230.09.2013US
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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Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)