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1. (WO2013055955) IDENTIFICATION OF DNA FRAGMENTS AND STRUCTURAL VARIATIONS
Latest bibliographic data on file with the International Bureau   

Pub. No.:    WO/2013/055955    International Application No.:    PCT/US2012/059806
Publication Date: 18.04.2013 International Filing Date: 11.10.2012
IPC:
G06F 19/14 (2011.01)
Applicants: COMPLETE GENOMICS, INC. [US/US]; 2071 Stierlin Court Mountain View, California 94043 (US).
KERMANI, Bahram Ghaffarzadeh [US/US]; (US) (US only).
DRMANAC, Radoje [US/US]; (US) (US only).
ALFEROV, Oleg [RU/US]; (US) (US only)
Inventors: KERMANI, Bahram Ghaffarzadeh; (US).
DRMANAC, Radoje; (US).
ALFEROV, Oleg; (US)
Agent: RACZKOWSKI, David B.; Kilpatrick Townsend & Stockton LLP Two Embarcadero Center, Eighth Floor Sand Francisco, California 94111-3834 (US)
Priority Data:
61/546,516 12.10.2011 US
61/623,876 13.04.2012 US
Title (EN) IDENTIFICATION OF DNA FRAGMENTS AND STRUCTURAL VARIATIONS
(FR) IDENTIFICATION DE FRAGMENTS ET DE VARIATIONS STRUCTURELLES D'ADN
Abstract: front page image
(EN)Various short reads can be grouped and identified as coming from a same long DNA fragment (e.g., by using wells with a relatively low-concentration of DNA). A histogram of the genomic coverage of a group of short reads can provide the edges of the corresponding long fragment (pulse). The knowledge of these pulses can provide an ability to determine the haploid genome and to identify structural variations
(FR)Selon l'invention, diverses lectures courtes peuvent être regroupées et identifiées comme provenant d'un même long fragment d'ADN (par exemple en utilisant des cupules ayant une relativement faible concentration d'ADN). Un histogramme de la couverture génomique d'un groupe de courtes lectures peut fournir les bords du fragment long correspondant (impulsion). La connaissance de ces impulsions peut fournir la capacité de déterminer le génome haploïde et d'identifier des variations structurelles.
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)