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1. (WO2013055822) SYSTEMS AND METHODS FOR ANALYSIS AND INTERPRETATION OF NUCLEIC ACID SEQUENCE DATA
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2013/055822    International Application No.:    PCT/US2012/059601
Publication Date: 18.04.2013 International Filing Date: 10.10.2012
IPC:
G06F 19/18 (2011.01), G06F 19/28 (2011.01)
Applicants: LIFE TECHNOLOGIES CORPORATION [US/US]; 5791 Van Allen Way Carlsbad, California 92008 (US)
Inventors: KRISHNASWAMI, Brijesh; (US).
JANDHYALA, Srikanth; (US).
LOU, Yuandan; (US).
SIDDIQUI, Asim; (US).
AGATE, Mrunal; (IN).
DHAPULKAR, Ameet; (IN).
BREU, Heinz; (US).
SHUKLA, Amitabh; (US).
KUHLMANN, Karl; (US).
HYLAND, Fiona; (US).
ALTUN, Gulsah; (US).
THOMAS, Daryl; (US)
Agent: SCHELL, David; Life Technologies Corporation 5791 Van Allen Way Carlsbad, California 92008 (US)
Priority Data:
61/545,895 11.10.2011 US
61/545,922 11.10.2011 US
61/598,499 14.02.2012 US
61/640,389 30.04.2012 US
Title (EN) SYSTEMS AND METHODS FOR ANALYSIS AND INTERPRETATION OF NUCLEIC ACID SEQUENCE DATA
(FR) SYSTÈMES ET PROCÉDÉS POUR ANALYSER ET INTERPRÉTER DES DONNÉES DE SÉQUENCES D'ACIDES NUCLÉIQUES
Abstract: front page image
(EN)Systems and method for annotating variants within a genome can call variants from reads or receive called variants directly and associate the called variants with functional annotations and interpretive annotations. A summary report of the called variants, the associated functional annotations, and the associated interpretive annotations can be generated.
(FR)La présente invention concerne des systèmes et un procédé pour annoter des variants au sein d'un génome, pouvant appeler des variants à partir de lectures ou recevoir directement des variants appelés et associer les variants appelés à des annotations fonctionnelles et des annotations interprétatives. Un rapport récapitulatif des variants appelés, des annotations fonctionnelles associées et des annotations interprétatives associées peut être généré.
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, IS, JP, KE, KG, KM, 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, 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 (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (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, ML, MR, NE, SN, TD, TG).
Publication Language: English (EN)
Filing Language: English (EN)