(19)
(11) EP 2 772 549 B8

(12) CORRECTED EUROPEAN PATENT SPECIFICATION
Note: Bibliography reflects the latest situation

(15) Correction information:
Corrected version no 1 (W1 B1)

(48) Corrigendum issued on:
11.09.2019 Bulletin 2019/37

(45) Mention of the grant of the patent:
31.07.2019 Bulletin 2019/31

(21) Application number: 11878559.1

(22) Date of filing: 31.12.2011
(51) International Patent Classification (IPC): 
C12Q 1/6869(2018.01)
G16B 30/00(2019.01)
 C12Q 1/6809(2018.01)
(86) International application number:
PCT/CN2011/002244
(87) International publication number:
WO 2013/097062 (04.07.2013 Gazette 2013/27)

(54)

METHOD FOR DETECTING GENETIC VARIATION

VERFAHREN ZUM NACHWEIS VON GENETISCHEN VARIATIONEN

PROCÉDÉ DE DÉTECTION D'UNE VARIATION GÉNÉTIQUE

(84) Designated Contracting States:
AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LI LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR

(43) Date of publication of application:
03.09.2014 Bulletin 2014/36

(73) Proprietor: BGI Genomics Co., Ltd.
Shenzhen (CN)

(72) Inventors:
  • CHEN, Shengpei
    Shenzhen Guangdong 518083 (CN)
  • ZHANG, Chunlei
    Shenzhen Guangdong 518083 (CN)
  • CHEN, Fang
    Shenzhen Guangdong 518083 (CN)
  • XIE, Weiwei
    Shenzhen Guangdong 518083 (CN)
  • PAN, Xiaoyu
    Shenzhen Guangdong 518083 (CN)
  • WANG, Jian
    Shenzhen Guangdong 518083 (CN)
  • WANG, Jun
    Shenzhen Guangdong 518083 (CN)
  • YANG, Huanming
    Shenzhen Guangdong 518083 (CN)
  • ZHANG, Xiuqing
    Shenzhen Guangdong 518083 (CN)

(74) Representative: HGF Limited 
8th Floor 140 London Wall
London EC2Y 5DN
London EC2Y 5DN (GB)


(56) References cited: : 
WO-A1-2010/042716
WO-A1-2010/057132
WO-A2-2010/001419
 WO-A1-2010/054284
WO-A1-2010/075459
CN-A- 101 555 528
   
  • S. YOON ET AL: "Sensitive and accurate detection of copy number variants using read depth of coverage", GENOME RESEARCH, vol. 19, no. 9, 5 August 2009 (2009-08-05) , pages 1586-1592, XP055167321, ISSN: 1088-9051, DOI: 10.1101/gr.092981.109
  • ERIC Z. CHEN ET AL: "Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing", PLOS ONE, vol. 6, no. 7, 6 July 2011 (2011-07-06), page e21791, XP055024137, DOI: 10.1371/journal.pone.0021791
  • Anonymous: "Resampling (statistics) - Wikipedia, the free encyclopedia", , 29 December 2011 (2011-12-29), XP055168025, Retrieved from the Internet: URL:http://en.wikipedia.org/w/index.php?ti tle=Resampling_(statistics)&oldid=46831285 8 [retrieved on 2015-02-06]
  • Daisuke Komura ET AL: "Noise reduction from genotyping microarrays using probe level information", In silico biology, 1 January 2006 (2006-01-01), pages 79-92, XP055168063, Netherlands Retrieved from the Internet: URL:http://www.ncbi.nlm.nih.gov/pubmed/167 89916 [retrieved on 2015-02-06]
   
Note: Within nine months from the publication of the mention of the grant of the European patent, any person may give notice to the European Patent Office of opposition to the European patent granted. Notice of opposition shall be filed in a written reasoned statement. It shall not be deemed to have been filed until the opposition fee has been paid. (Art. 99(1) European Patent Convention).