(19)
(11) EP 2 826 865 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:
16.08.2017 Bulletin 2017/33

(45) Mention of the grant of the patent:
21.06.2017 Bulletin 2017/25

(21) Application number: 12865785.5

(22) Date of filing: 20.01.2012
(51) International Patent Classification (IPC): 
C12Q 1/68(2006.01)
 G06F 19/22(2011.01)
(86) International application number:
PCT/CN2012/070680
(87) International publication number:
WO 2013/107048 (25.07.2013 Gazette 2013/30)

(54)

METHOD AND SYSTEM FOR DETERMINING WHETHER COPY NUMBER VARIATION EXISTS IN SAMPLE GENOME, AND COMPUTER READABLE MEDIUM

VERFAHREN UND SYSTEM ZUR BESTIMMUNG DER EXISTENZ EINER KOPIEZAHLVARIANTE IN EINER GENOMPROBE UND COMPUTERLESBARES MEDIUM

PROCÉDÉ ET SYSTÈME POUR DÉTERMINER S'IL EXISTE UNE VARIABILITÉ DU NOMBRE DE COPIES DANS UN GÉNOME ÉCHANTILLON, ET SUPPORT LISIBLE PAR ORDINATEUR

(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:
21.01.2015 Bulletin 2015/04

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

(72) Inventors:
  • YIN, Xuyang
    Shenzhen Guangdong 518083 (CN)
  • ZHANG, Chunlei
    Shenzhen Guangdong 518083 (CN)
  • CHEN, Shengpei
    Shenzhen Guangdong 518083 (CN)
  • ZHANG, Chunsheng
    Shenzhen Guangdong 518083 (CN)
  • PAN, Xiaoyu
    Shenzhen Guangdong 518083 (CN)
  • JIANG, Hui
    Shenzhen Guangdong 518083 (CN)
  • ZHANG, Xiuqing
    Shenzhen Guangdong 518083 (CN)

(74) Representative: Huenges, Martin 
Maiwald Patentanwalts GmbH Elisenhof Elisenstrasse 3
80335 München
80335 München (DE)


(56) References cited: : 
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WO-A2-2007/129000
WO-A2-2010/033578
US-A1- 2003 082 606
 WO-A1-2011/091046
WO-A2-2007/131135
WO-A2-2012/006291
   
  • ALEX S NORD ET AL: "Accurate and exact CNV identification from targeted high-throughput sequence data", BMC GENOMICS, BIOMED CENTRAL LTD, LONDON, UK, vol. 12, no. 1, 12 April 2011 (2011-04-12) , page 184, XP021097730, ISSN: 1471-2164, DOI: 10.1186/1471-2164-12-184
  • 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
  • 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
  • T. CHU ET AL: "Statistical model for whole genome sequencing and its application to minimally invasive diagnosis of fetal genetic disease", BIOINFORMATICS, vol. 25, no. 10, 23 March 2009 (2009-03-23), pages 1244-1250, XP055018601, ISSN: 1367-4803, DOI: 10.1093/bioinformatics/btp156
  • CHUNLEI ZHANG ET AL: "A Single Cell Level Based Method for Copy Number Variation Analysis by Low Coverage Massively Parallel Sequencing", PLOS ONE, vol. 8, no. 1, 23 January 2013 (2013-01-23), page e54236, XP55136784, ISSN: 1932-6203, DOI: 10.1371/journal.pone.0054236
   
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