NGS SAMPLE VERIFICATION METHOD, AND DEVICE USING SAME

WIPO Patent Application WO/2020/204390

A1

The present specification provides: an NGS sample verification method implemented on an NGS device including a processor; and a device using same. The method comprises: a step for receiving a plurality of pieces of NGS data for a target sample, the NGS data including sequence information for a predetermined target single-nucleotide polymorphism (SNP) site; a step for determining whether samples are derived from the same entity among the plurality of pieces of NGS data, on the basis of the sequence information for the target SNP site; and a step for providing information about whether the samples are derived from the same entity.

WO/2016/168371	METHODS, SYSTEMS AND PROCESSES OF IDENTIFYING GENETIC VARIATION IN HIGHLY SIMILAR GENES
WO/2014/120821	METHODS, SYSTEMS, AND SOFTWARE FOR IDENTIFYING BIO-MOLECULES USING MODELS OF MULTIPLICATIVE FORM
WO/2015/031689	METHODS AND SYSTEMS FOR GENOMIC ANALYSIS

KIM SANG WOO (KR)
CHUN HE IN (KR)

PCT/KR2020/003426

October 08, 2020

March 12, 2020

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UNIV YONSEI IACF (KR)

G16B20/20; G16B20/40; G16B25/10; G16B40/00

KR20170098648A	2017-08-30
KR20170133079A	2017-12-05
KR20190015368A	2019-02-13

WANG, P. P. S. ET AL.: "BAM-matcher: a tool for rapid NGS sample matching", BIOINFORMATICS, vol. 32, no. 17, 3 May 2016 (2016-05-03), pages 2699 - 2701, XP055745622
LEE, S. ET AL.: "NGSCheckmate: software for validating sample identity in next-generation sequencing studies within and across data types", NUCLEIC ACIDS RESEARCH, vol. 45, no. 11, 23 March 2017 (2017-03-23), pages 1 - 10, XP055745624

INVENSYNC INTELLECTUAL PROPERTY GROUP (KR)

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