Patent SG-11201901296T-A (SG)
Title: Compositions and methods for detecting rare sequence variants
Inventor: WENG LI
IPC: C40B50/06
Filed: 2017-08-15
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) CORRECTED VERSION (19) World Intellectual Property Organization International Bureau (43) International Publication Date 111111111111011010101111101111011111111 0M IDE 010E11110HE (10) International Publication Number WO 2018/035170 A8 W O 20 18/035 17 0 A8 22 February 2018 (22.02.2018) WIP0 I PCT 4 (51) International Patent Classification: C12Q 1/68 (2006.01) C40B 50/06 (2006.01) C40B 40/06 (2006.01) C40B 30/00 (2006.01) (21) International Application Number: PCT/US2017/047029 (22) International Filing Date: 15 August 2017 (15.08.2017) (25) Filing Language: English (26) Publication Language: English (30) Priority Data: 62/375,396 15 August 2016 (15.08.2016) US (71) Applicant: ACCURAGEN HOLDINGS LIMITED; P.O. Box 472, Harbour Place, 2nd Floor, 103 South Church Street, George Town, Grand Cayman, KY1-1106 (KY). (72) Inventor; and (71) Applicant (for MW only): SUN, Zhaohui [CN/US]; 1152 Garfield Avenue, Albany, CA 94706 (US). (72) Inventors: WENG, Li; 33991 Shylock Drive, Fremont, CA 94555 (US). LIN, Shengrong; 34568 Willbridge Terrace, Fremont, CA 94555 (US). (74) Agent: LAM, Amy et al.; Wilson Sonsini Goodrich & Rosati, 650 Page Mill Road, Palo Alto, CA 94304-1050 (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, (54) Title: COMPOSITIONS AND METHODS FOR DETECTING RARE SEQUENCE VARIANTS 1 n put DNA fragment Circularize Shredding functions Shredding Co->caterner Shredding Pont Concatemer Shredding POint A Concatemershreddir7 points combined with junctions can.uniquely index reads amplified from same - origins FIG. 39 (57) : In some aspects, the present disclosure provides methods for identifying sequence variants in a nucleic acid sample. In some embodiments, a method comprises identifying sequence differences between sequencing reads and a reference sequence, and calling a sequence difference that occurs in at least two different circular polynucleotides, such as two circular polynucleotides having different junctions, or two different sheared polynucleotides as the sequence variant. In some aspects, the present disclosure provides compositions and systems useful in the described methods. [Continued on next page] WO 2018/035170 A8 MIDEDIM01101 DIONEEM00HOMEM111111111111011111111111111111 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. (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). Published: — with international search report (Art. 21(3)) (48) Date of publication of this corrected version: 05 April 2018 (05.04.2018) (15) Information about Correction: see Notice of 05 April 2018 (05.04.2018)