Patent SG-11201908564R-A (SG)
Title: Devices, processes, and systems for determination of nucleic acid sequence, expression, copy number, or methylation changes using combined nuclease, ligase, polymerase, and sequencing reactions
Inventor: BARANY FRANCIS
IPC: B01F13/00
Filed: 2018-03-29
Abstract: m ▪ m (70 m m 0(70a7 1111111111111111111111111111111111111111111111 mmmmmmmmmmmmmmmmmmmmmmmm mmmmmmmmmmmmmmmmmmmmmmmm mmmmmmmmmmmmmmmmmmmmmmmm 1.1.1.11.1.1111111.1.1•11. mmmmmmmmmmmmmmmmmmmmmmmm m ▪ mmmmmmmmmmmmmmmmmmmmmmm m ▪ mmmmmmmmmmmmmmmmmmmmmmm E Nmmmmmmmmmmmmmmmmmmmmm J 26 22 24a 24b 11111111111111111010111111111 131111311111111111311113 IIIIIIIIIIIIIIIIIIIIIII A AAA Z AAAAAAA 14 10 2 .... 12 .... 20 16 18a Figure 2 INEEMENIENEMEMENNESEMENE 11111111111111111111111111111111111111 30 28 32 (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 04 October 2018 (04.10.2018) W I PO I PCT Hu omits °nolo HE mil Kim °mono ow (10) International Publication Number WO 2018/183723 Al 1-1 N co 1-1 00 O C 1-1 (51) International Patent Classification: B01F 13/00 (2006.01) Cl 2M 1/34 (2006.01) BOIL 3/00 (2006.01) Cl 2M 1/40 (2006.01) C12M 1/00 (2006.01) (21) International Application Number: PCT/US2018/025213 (22) International Filing Date: 29 March 2018 (29.03.2018) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 62/478,412 29 March 2017 (29.03.2017) US (71) Applicant: CORNELL UNIVERSITY [US/US]; Center for Technology Licensing at Cornell University (CTL), 395 Pine Tree Road, Suite 310, Ithaca, NY 14850 (US). (72) Inventor: BARANY, Francis; 450 E. 63rd Street, Apt. 12C, New York, NY 10021 (US). (74) Agent: GOLDMAN, Michael, L. et al.; LECLAIRRYAN PLLC, 70 Linden Oaks, Suite 210, Rochester, NY 14625 (US). (81) Designated States (unless otherwise indicated, for every kind of national protection available): 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, JO, 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. (54) Title: DEVICES, PROCESSES, AND SYSTEMS FOR DETERMINATION OF NUCLEIC ACID SEQUENCE, EXPRESSION, = COPY NUMBER, OR METHYLATION CHANGES USING COMBINED NUCLEASE, LIGASE, POLYMERASE, AND SE- QUENCING REACTIONS (57) : The present invention relates to methods, devices, instruments, processes, and systems for the highly specific, targeted molecular analysis of regions of human genomes and transcriptomes from the blood, i.e. from cell free circulating DNA, exosomes, microRNA, IncRNA, circulating tumor cells, or total blood cells. The technology enables highly sensitive identification and enumera- tion of mutation, expression, copy number, translocation, alternative splicing, and methylation changes using spatial multiplexing and combined nuclease, ligation, polymerase, and sequencing reactions. Such technology may be used for non-invasive early detection of cancer, non-invasive cancer prognosis, and monitoring both treatment efficacy and disease recurrence of cancer. [Continued on next page] WO 2018/183723 Al MIDEDIMOMOIDEIREEMOMMENEEMOMOVOIMIE (84) Designated States (unless otherwise indicated, for every kind of regional protection available): ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (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), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Declarations under Rule 4.17: — of inventorship (Rule 4.17(iv)) Published: — with international search report (Art. 21(3))