Patent SG-11201901371X-A (SG)
Title: Methods for the detection of genomic copy changes in dna samples
Inventor: RAYMOND CHRISTOPHER K
IPC: C12Q1/68
Filed: 2017-08-24
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property 111111111111111111 11111111110111110 1 0 0111111 001110111111 1011 00 111110 111111111111 Organization International Bureau (10) International Publication Number (43) International Publication Date ......0\" WO 2018/039463 Al 01 March 2018 (01.03.2018) W I P0 I P C T (51) International Patent Classification: tion Bioscience, Inc., 2023 120th Ave NE, Suite 100, Belle- C12Q 1/68 (2006.01) GO6F 19/20 (2011.01) vue, Washington 98005 (US). HERNANDEZ, Jennifer; c/ GO6F 19/00 (2011.01) o Resolution Bioscience, Inc., 2023 120th Ave NE, Suite (21) International Application Number: 100, Bellevue, Washington 98005 (US). PCT/US2017/048434 (74) Agent: PHELAN, Jordan D. et al.; Cooley LLP, 1299 (22) International Filing Date: Pennsylvania Avenue, NW, Suite 700, Washington, District 24 August 2017 (24.08.2017) of Columbia 20004 (US). (25) Filing Language: English (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, (26) Publication Language: English AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, (30) Priority Data: CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, 62/379,593 25 August 2016 (25.08.2016) US DZ, EC, EE, EG, ES, FL GB, GD, GE, GH, GM, GT, HN, 62/481,538 04 April 2017 (04.04.2017) US 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, (71) Applicant: RESOLUTION BIOSCIENCE, INC. MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, [US/US]; 2023 120th Ave NE, Suite 100, Bellevue, Wash- OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, ington 98005 (US). 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. (72) Inventors: RAYMOND, Christopher K.; c/o Resolution — Bioscience, Inc., 2023 120th Ave NE, Suite 100, Belle- (84) Designated States (unless otherwise indicated, for every vue, Washington 98005 (US). LIM, Lee P.; c/o Resolu- kind of regional protection available): ARIPO (BW, GH, (54) Title: METHODS FOR THE DETECTION OF GENOMIC COPY CHANGES IN DNA SAMPLES = FIG . CNL assay: sample-to-sample .. 0 r-I fsi m •zr required reproducibility a) a) GD t o N ‘`f l i — = = ATM lower = — = BRCA1 t = BRCA2 cu c = w BRIP1 E = 2 3 ED 6 CHEK2 c N ' - = = = FANCA . = i HDAC2 PALB2 AR g higher . •• •, •%.,, 1-1 TP53 ` 1 cr) ........ ,CD iv CT © cr) (57) : The present invention includes compositions and methods useful for the detection of a mutational change, SNP, translo- o 'a cation, inversion, deletion, change in copy number, or other genetic variation within a sample of cellular genomic DNA or cell-free DNA (cfDNA). In some embodiments, the compositions and methods of the present invention provide an extremely high level of res- 0 olution that is particularly useful in detecting copy number variations in a small fraction of the total cfDNA from a biological sample \" (e.g., blood). C [Continued on next page] WO 2018/039463 Al MIDEDIMOMOIDEIREIDIONIMOIMOIEEIMOVOIMIE 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: — as to applicant's entitlement to apply for and be granted a patent (Rule 4.17(U)) — as to the applicant's entitlement to claim the priority of the earlier application (Rule 4.17(iii)) Published: — with international search report (Art. 21(3)) — before the expiration of the time limit for amending the 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))