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1. (WO2017035392) SYSTEMS AND METHODS FOR HIGH-ACCURACY VARIANT CALLING
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Pub. No.: WO/2017/035392 International Application No.: PCT/US2016/048768
Publication Date: 02.03.2017 International Filing Date: 25.08.2016
IPC:
G06F 19/22 (2011.01) ,G06F 19/26 (2011.01) ,G06F 19/28 (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
22
for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
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
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
28
for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
Applicants:
NANTOMICS, LLC [US/US]; 9920 Jefferson Boulevard Culver City, California 90232, US
Inventors:
SANBORN, John Zachary; US
Agent:
FESSENMAIER, Martin; US
Priority Data:
62/209,85825.08.2015US
Title (EN) SYSTEMS AND METHODS FOR HIGH-ACCURACY VARIANT CALLING
(FR) SYSTÈMES ET PROCÉDÉS D'APPEL DE VARIANTE DE HAUTE PRÉCISION
Abstract:
(EN) Systems and methods for in silico prediction of HLA type of a patient are presented in which patient sequence reads and a reference sequence with known and distinct HLA alleles are used in a de Bruijn graph. A composite match score is then used to rank HLA alleles, thus providing a first HLA type. A second HLA type is identified by re-ranking using an adjusted composite match score.
(FR) La présente invention concerne des systèmes et des procédés pour la prédiction in silico du type de HLA d'un patient, dans lesquels des lectures de séquence de patient et une séquence de référence ayant des allèles de HLA connus et distincts sont utilisées dans un graphe de de Bruijn. Un score de correspondance composite est ensuite utilisé pour classer des allèles de HLA, fournissant ainsi un premier type de HLA. Un second type de HLA est identifié par un reclassement à l'aide d'un score de correspondance composite ajusté.
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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, 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)