METHOD FOR EVALUATING MINORITY VARIANTS IN A SAMPLE

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EP 3 077 539 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:
	10.10.2018 Bulletin 2018/41

(45)	Mention of the grant of the patent:
	25.07.2018 Bulletin 2018/30

(21)	Application number: 14841366.9

(22)	Date of filing: 26.11.2014

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International Patent Classification (IPC):

C12Q 1/68^(2018.01)

(86)	International application number:
	PCT/IB2014/003082

(87)	International publication number:
	WO 2015/083004 (11.06.2015 Gazette 2015/23)

(54)	METHOD FOR EVALUATING MINORITY VARIANTS IN A SAMPLE VERFAHREN ZUR EVALUIERUNG VON MINDERHEITENVARIANTEN IN EINER PROBE PROCÉDÉ D'ÉVALUATION DE VARIANTS MINORITAIRES DANS UN ÉCHANTILLON

(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

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Priority:

02.12.2013 US 201361910890 P

(43)	Date of publication of application:
	12.10.2016 Bulletin 2016/41

(73)	Proprietor: Personal Genome Diagnostics Inc.
	Baltimore, MD 21224 (US)

(72)	Inventors:
	OSBORNE, Robert Cambridge CB1 2LA (GB) MUSGRAVE-BROWN, Esther Cambridge CB1 2LA (GB)

(74)	Representative: Williams Powell
	11 Staple Inn London WC1V 7QH London WC1V 7QH (GB)

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References cited: :

WO-A1-2007/073165
WO-A2-2007/037678
WO-A2-2012/142213
WO-A2-2013/130512

WO-A1-2013/123442
WO-A2-2009/152928
WO-A2-2012/159754

KINDE I. ET AL: "Detection and quantification of rare mutations with massively parallel sequencing", PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES, vol. 108, no. 23, 17 May 2011 (2011-05-17) , pages 9530-9535, XP055164202, ISSN: 0027-8424, DOI: 10.1073/pnas.1105422108
KIVIOJA T. ET AL: "Counting absolute numbers of molecules using unique molecular identifiers", NATURE METHODS, NATURE PUBLISHING GROUP, GB, vol. 9, no. 1, 1 January 2012 (2012-01-01) , pages 72-74, XP002722751, ISSN: 1548-7105, DOI: 10.1038/NMETH.1778 [retrieved on 2011-11-20]
P. FLAHERTY ET AL: "Ultrasensitive detection of rare mutations using next-generation targeted resequencing", NUCLEIC ACIDS RESEARCH, vol. 40, no. 1, 19 October 2011 (2011-10-19), pages 1-12, XP055161679, ISSN: 0305-1048, DOI: 10.1093/nar/gkr861
GUNDRY M. ET AL: "Direct mutation analysis by high-throughput sequencing: From germline to low-abundant, somatic variants", MUTATION RESEARCH, ELSEVIER, AMSTERDAM, NL, vol. 729, no. 1, 5 October 2011 (2011-10-05), pages 1-15, XP028393499, ISSN: 0027-5107, DOI: 10.1016/J.MRFMMM.2011.10.001 [retrieved on 2011-10-12]
HOANG M L ET AL: "Genome-wide quantification of rare somatic mutations in normal human tissues using massively parallel sequencing", PROCEEDINGS NATIONAL ACADEMY OF SCIENCES PNAS, vol. 113, no. 35, 15 August 2016 (2016-08-15), pages 9846-9851, XP055393458, US ISSN: 0027-8424, DOI: 10.1073/pnas.1607794113

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