Patent AU-2012261664-B2 (AU)
Title: Noninvasive detection of fetal genetic abnormality
Inventor: JIANG FUMAN
IPC: G16B20/20
Filed: 2011-06-29
Granted: 2014-07-03
Abstract: (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (10) International Publication Number (43) International Publication Date W O 2013/000100 Al 3 January 2013 (03.01.2013) W I P0 I P CT (51) International Patent Classification: Beishan Road 146, Yantian District, Shenzhen, Guangdong C12Q 1/68 (2006.01) 518083 (CN). (21) International Application Number: (74) Agent: PEKSUNG INTELLECTUAL PROPERTY PCT/CN2011/001070 LTD.; 908 Shining Tower, 35 Xueyuan Road, Haidian (22) International Filing Date: District, Beijing 100191 (CN). 29 June 2011 (29.06.2011) (81) Designated States (unless otherwise indicated, for every kind of national protection available): AE, AG, AL, AM, (25) Filing Language: English AO, AT, AU, AZ, BA, BB, BG, BH, BR, BW, BY, BZ, (26) Publication Language: English CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, Fl, GB, GD, GE, GH, GM, GT, HN, (71) Applicant (for all designated States except US): BGI HR, HU, ID, IL, IN, IS, JP, KE, KG, KM, KN, KP, KR, SHENZHEN CO., LIMITED [CN/CN]; Main Building KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, 11 F-3, Beishan Industrial Zone, Beishan Road 146, Yan- MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, tian District, Shenzhen, Guangdong 518083 (CN). OM, PE, PG, PH, PL, PT, RO, RS, RU, SC, SD, SE, SG, (72) Inventors; and SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, (75) Inventors/Applicants (for US only): JIANG, Fuman UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. [CN/CN]; Main Building 1 F-3, Beishan Industrial Zone, (84) Designated States (unless otherwise indicated, for every Beishan Road 146, Yantian District, Shenzhen, Guangdong kind of regional protection available): ARIPO (BW, GH, 518083 (CN). CHEN, Huifei [CN/CN]; Main Building GM, KE, LR, LS, MW, MZ, NA, SD, SL, SZ, TZ, UG, 11 F-3, Beishan Industrial Zone, Beishan Road 146, Yan- ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, MD, RU, TJ, tian District, Shenzhen, Guangdong 518083 (CN). CHAI, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, Xianghua [CN/CN]; Main Building 1 F-3, Beishan Indus - EE, ES, Fl, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, trial Zone, Beishan Road 146, Yantian District, Shenzhen, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, Guangdong 518083 (CN). YUAN, Yuying [CN/CN]; Main TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, Building 1 F-3, Beishan Industrial Zone, Beishan Road ML, MR, NE, SN, TD, TG). 146, Yantian District, Shenzhen, Guangdong 518083 (CN). ZHANG, Xiuqing [CN/CN]; Main Building 1 F-3, Published: trict, Shenzhen, Guangdong 518083 (CN). CHEN, Fang [CN/CN]; Main Building 1 F-3, Beishan Industrial Zone, (54) Title: NONINVASIVE DETECTION OF FETAL GENETIC ABNORMALITY Sample Chromosome i reference sequencing tags unique reads preparation Delete outlier Count ni Count Ni ni is the number of sample sequencing Ni is the number of reference tags mapped to chromosome i unique reads of chromosome i Count GCi Calculate Ci GC is the GC content of sample Ci=n/N 0 sequencing tags mapped to chromosome i Ci is the coverage depth o Figure 1 (57) Abstract: The current invention is directed to methods for noninvasive detection of fetal genetic abnormalities by large-scale O sequencing of nucleotides from maternal biological sample. Further provided are methods to remove GC bias from the sequencing results according to the difference in GC content of a chromosome. The current invention not only makes the detection much more accurate but also represents a comprehensive method for fetal aneuploidy detection including sex chromosome disorders such as XO, XXX,XXY, and XYY, etc.