(19)
(11) EP 2 835 752 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:
26.12.2018 Bulletin 2018/52

(45) Mention of the grant of the patent:
19.09.2018 Bulletin 2018/38

(21) Application number: 12873786.3

(22) Date of filing: 05.04.2012
(51) International Patent Classification (IPC): 
G06F 19/22(2011.01)
 C12Q 1/68(2018.01)
(86) International application number:
PCT/CN2012/073545
(87) International publication number:
WO 2013/149385 (10.10.2013 Gazette 2013/41)

(54)

METHOD AND SYSTEM FOR DETECTING COPY NUMBER VARIATION

VERFAHREN UND SYSTEM ZUR ERKENNUNG VON KOPIENZAHLVARIANTEN

PROCÉDÉ ET SYSTÈME DE DÉTECTION DE VARIATION DU NOMBRE DE COPIES

(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:
11.02.2015 Bulletin 2015/07

(73) Proprietor: BGI Genomics Co., Ltd.
Yantian District Shenzhen, Guangdong Province 518083 (CN)

(72) Inventors:
  • LI, Xuchao
    Shenzhen Guangdong 518083 (CN)
  • CHEN, Shengpei
    Shenzhen Guangdong 518083 (CN)
  • CHEN, Fang
    Shenzhen Guangdong 518083 (CN)
  • XIE, Weiwei
    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: Predazzi, Valentina et al
Società Italiana Brevetti S.p.A. Piazza di Pietra, 39
00186 Roma
00186 Roma (IT)


(56) References cited: : 
WO-A2-2004/044225
 CN-A- 101 449 161
   
  • G. KLAMBAUER ET AL: "cn.MOPS: mixture of Poissons for discovering copy number variations in next-generation sequencing data with a low false discovery rate", NUCLEIC ACIDS RESEARCH, vol. 40, no. 9, 1 February 2012 (2012-02-01), pages e69-e69, XP055216800, ISSN: 0305-1048, DOI: 10.1093/nar/gks003
  • 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
  • DEREK Y CHIANG ET AL: "High-resolution mapping of copy-number alterations with massively parallel sequencing", NATURE METHODS, vol. 6, no. 1, 30 November 2008 (2008-11-30), pages 99-103, XP055065796, ISSN: 1548-7091, DOI: 10.1038/nmeth.1276
  • A. J. DE SMITH ET AL: "Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases", HUMAN MOLECULAR GENETICS, vol. 16, no. 23, 1 December 2007 (2007-12-01), pages 2783-2794, XP055040429, ISSN: 0964-6906, DOI: 10.1093/hmg/ddm208
  • SHEN Y ET AL: "Designing a simple multiplex ligation-dependent probe amplification (MLPA) assay for rapid detection of copy number variants in the genome", JOURNAL OF GENETICS AND GENOMICS, ELSEVIER BV, NL, vol. 36, no. 4, 1 April 2009 (2009-04-01), pages 257-265, XP026054506, ISSN: 1673-8527, DOI: 10.1016/S1673-8527(08)60113-7 [retrieved on 2009-04-01]
  • LI XUCHAO ET AL: "PSCC: Sensitive and Reliable Population-Scale Copy Number Variation Detection Method Based on Low Coverage Sequencing", PLOS ONE, vol. 9, no. 1, 1 January 2014 (2014-01-01) , XP002745107,
   
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