Patent SG-11201808261R-A (SG)
Title: Genetic variant-phenotype analysis system and methods of use
Inventor: REID JEFFREY
IPC: G16B45/00
Filed: 2017-03-29
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property -, Organization MD IIIII01101010 11111 01011111011101011101111111111111110111111111110111111 International Bureau 0.. .... .. (10) International Publication Number (43) International Publication Date ..... ...r .....1 WO 2017/172958 Al 5 October 2017 (05.10.2017) IN I PO I P CT (51) International Patent Classification: eron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, G06F 19/18 (2011.01) G06F 19/22 (2011.01) Tarrytown, NY 10591 (US). CAJES, Brian; c/o Regener- (21) International Application Number: on Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591 (US). STAPLES, Jeffrey; c/o Re- PCT/US2017/024810 generon Pharmaceuticals, Inc., 777 Old Saw Mill River (22) International Filing Date: Road, Tarrytown, NY 10591 (US). MAXWELL, Evan; 29 March 2017 (29.03.2017) c/o Regeneron Pharmaceuticals, Inc., 777 Old Saw Mill River Road, Tarrytown, NY 10591 (US). (25) Filing Language: English (74) Agents: BROWN, Charley F. et al.; Ballard Spahr, LLP, (26) Publication Language: English 999 Peachtree Street, Suite 1000, Atlanta, GA 30309 (US). (30) Priority Data: (81) Designated States (unless otherwise indicated, for every 62/314,684 29 March 2016 (29.03.2016) US kind of national protection available): AE, AG, AL, AM, 62/362,660 15 July 2016 (15.07.2016) US AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, 62/467,547 6 March 2017 (06.03.2017) US BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, (71) Applicant: REGENERON PHARMACEUTICALS, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, INC. [US/US]; 777 Old Saw Mill River Road, Tarrytown, HN, HR, HU, ID, IL, IN, IR, IS, JP, KE, KG, KH, KN, NY 10591 (US). KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, (72) Inventors: REID, Jeffrey; c/o Regeneron Pharmaceutic- NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, als, Inc., 777 Old Saw Mill River Road, Tarrytown, NY RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, 10591 (US). GOTTESMAN, Omri; c/o Regeneron Phar- TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, = maceuticals, Inc., 777 Old Saw Mill River Road, Tarry- ZA, ZM, ZW. town, NY 10591 (US). HABEGGER, Lukas; c/o Regen- = [Continued on next page] = — (54) Title: GENETIC VARIANT-PHENOTYPE ANALYSIS SYSTEM AND METHODS OF USE = (57) : Methods and systems for generating and analyzing genetic _ = 100—.4 FIG. I variant-phenotype association results = are disclosed. = = Cdaborator 10 = = = = it Remote Data/Processing Internet Center 108 = _ = 112 V = Local Data/Processing Center .1.122 NGS Sequencing Facility 106 11 GC A in 0\ Medical Data Provider ei IN 104 1-1 N 1-1 0 ei O WO 2017/172958 Al MIDEDIM011010EIRMEM311111111111111111111111111111111110111111111111 (84) Designated States (unless otherwise indicated, for every Declarations under Rule 4.17: kind of regional protection available): ARIPO (BW, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, GH, SZ, DE, as to applicant's entitlement to apply a patent (Rule 4.17(ii)) Published: for and be granted DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, IT, RS, LT, SE, — with international search report (Art. 21(3)) SI, SK, SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, — before the expiration of the time limit for amending the GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). claims and to be republished in the event of receipt of amendments (Rule 48.2(h)) — with sequence listing part of description (Rule 5.2(a))