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1. (WO2017153844) METHOD FOR ANALYZING A SEQUENCE OF TARGET REGIONS AND DETECT ANOMALIES
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Pub. No.: WO/2017/153844 International Application No.: PCT/IB2017/000332
Publication Date: 14.09.2017 International Filing Date: 10.03.2017
IPC:
G06F 19/16 (2011.01) ,G06F 19/22 (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
16
for molecular structure, e.g. structure alignment, structural or functional relations, protein folding, domain topologies, drug targeting using structure data, involving two-dimensional or three-dimensional structures
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
22
for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
Applicants:
GENOMIC VISION [FR/FR]; 80-84, rue des Meuniers 92220 Bagneux, FR
Inventors:
BERTHOUMIEUX, Sara; FR
GLAUDIN, Vincent; FR
KOMATSU, Jun; FR
LEVREY, Olivier; FR
KYRGYZOV, Ivan; FR
FER, Frédéric; FR
Agent:
REGIMBEAU; 139 rue Vendôme 69477 Lyon Cedex 06, FR
Priority Data:
62/306,32510.03.2016US
Title (EN) METHOD FOR ANALYZING A SEQUENCE OF TARGET REGIONS AND DETECT ANOMALIES
(FR) PROCÉDÉ D'ANALYSE D'UNE SÉQUENCE DE ZONES CIBLES ET DÉTECTION D'ANOMALIES
Abstract:
(EN) The present invention is related to a method of analyzing a set of sequences of target regions on a plurality of macromolecules to test so as to detect anomalies therein, each target region being associated with a tag and said macromolecules having underwent linearization according to a predetermined direction, wherein said method comprises performing by a processor (11) of equipment (10) the following steps: (a) Identifying said sequences of target regions from at least one sample image received from a scanner (2), said sample image depicting said macromolecules as curvilinear objects sensibly extending according to said predetermined direction; (b) Determining if there is at least one target region presenting a bimodal distribution of the lengths of said target region; (c) Determining if there is at least one recurrent breakpoint position in said sequences of target regions; If at least one target region presenting a bimodal distribution of length and/or at least one recurrent breakpoint position has been determined, classifying the set of sequences of target regions as being abnormal, and outputting the result thereof.
(FR) La présente invention concerne un procédé d'analyse d'un ensemble de séquences de zones cibles sur une pluralité de macromolécules à tester afin d'y détecter des anomalies, chaque zone cible étant associée à une étiquette et lesdites macromolécules ayant subi une linéarisation selon une direction prédéterminée, ledit procédé consistant pour un processeur (11) d'un équipement (10) : (a) à identifier lesdites séquences de zones cibles à partir d'au moins une image d'échantillon reçue en provenance d'un scanner (2), ladite image d'échantillon représentant lesdites macromolécules en tant qu'objets curvilignes s'étendant sensiblement selon ladite direction prédéterminée ; (b) à déterminer s'il existe au moins une zone cible présentant une distribution bimodale des longueurs de ladite zone cible ; (c) à déterminer s'il existe au moins une position de point de rupture récurrente dans lesdites séquences de zones cibles ; si au moins une zone cible présentant une distribution bimodale de longueur et/ou au moins une position de point de rupture récurrente a été déterminée, à classifier l'ensemble de séquences de zones cibles comme étant anormal et à émettre en sortie ledit résultat.
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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, DJ, 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, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, 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)