(19)
(11) EP 3 271 480 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:
28.09.2022 Bulletin 2022/39

(45) Mention of the grant of the patent:
16.03.2022 Bulletin 2022/11

(21) Application number: 16735337.4

(22) Date of filing: 06.01.2016
(51) International Patent Classification (IPC): 
C12Q 1/686(2018.01)
C12Q 1/6827(2018.01)
C12Q 1/6809(2018.01)
(52) Cooperative Patent Classification (CPC):
C12Q 1/6809; C12Q 1/686; C12Q 1/6827
 
C-Sets:
  1. C12Q 1/6827, C12Q 2521/501, C12Q 2525/161, C12Q 2525/301;
  2. C12Q 1/686, C12Q 2531/125;

(86) International application number:
PCT/US2016/012286
(87) International publication number:
WO 2016/112073 (14.07.2016 Gazette 2016/28)

(54)

SCREENING FOR STRUCTURAL VARIANTS

ABTASTUNG AUF STRUKTURELLE VARIANTEN

CRIBLAGE DE VARIANTS STRUCTURAUX


(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

(30) Priority: 06.01.2015 US 201562100254 P

(43) Date of publication of application:
24.01.2018 Bulletin 2018/04

(60) Divisional application:
22161970.3

(73) Proprietor: Molecular Loop Biosciences, Inc.
County of New Castle, 19801 (US)

(72) Inventors:
  • GORE, Athurva
    Cambridge, MA 02139 (US)
  • UMBARGER, Mark
    Brookline, MA 02446 (US)

(74) Representative: Graham Watt & Co LLP 
St. Botolph's House 7-9 St. Botolph's Road
Sevenoaks TN13 3AJ
Sevenoaks TN13 3AJ (GB)


(56) References cited: : 
US-A1- 2011 117 544
US-B1- 8 778 609
US-A1- 2014 342 940
   
  • JIE DENG ET AL: "Targeted bisulfite sequencing reveals changes in DNA methylation associated with nuclear reprogramming", NATURE BIOTECHNOLOGY, vol. 27, no. 4, 1 April 2009 (2009-04-01), pages 353-360, XP055042001, ISSN: 1087-0156, DOI: 10.1038/nbt.1530
  • SHEN ET AL.: 'Multiplex target capture with double-stranded DNA probes' GENOME MEDICINE vol. 5, no. 50, 2013, pages 1 - 8, XP055146836
  • YOON ET AL.: 'MicroDuMIP: target-enrichment technique for microarray-based duplex molecular inversion probes' NUCLEIC ACIDS RESEARCH vol. 43, no. 5, page E28, XP055408152
  • LIN ET AL.: 'A molecular inversion probe assay for detecting alternative splicing' BIOMED CENTRAL (BMC) GENOMICS vol. 11, no. 712, 2010, pages 1 - 14, XP021086313
  • UMBARGER ET AL.: 'Next-generation carrier screening' GENETICS IN MEDICINE vol. 16, no. 2, 2014, pages 132 - 140, XP055186040
   
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).