Title:
SEED SEQUENCE GENERATION METHOD AND APPARATUS FOR ITD ANALYSIS IN NGS ANALYSIS
Document Type and Number:
WIPO Patent Application WO/2023/214754
Kind Code:
A1
Abstract:
One embodiment of the present invention relates to a method comprising: acquiring information about reads for an arbitrary sequence by means of an NGS analysis method; selecting reads having the same insertion sequence from among the acquired reads on the basis of a reference sequence, and b) selecting reads having the same soft-clipped bases; and selecting, as a seed sequence, a region including a part or all of the sequence of the soft-clipped bases of the selected reads and the insertion sequence thereof, and thus ITD can be accurately analyzed through the selected seed sequence, such that diagnosis, prognosis determination and the like of diseases associated with ITD can be performed thereby.
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Inventors:
KIM MYUNG-SHIN (KR)
KIM YONG-GOO (KR)
LEE JONG-MI (KR)
HWANG INSIK (KR)
KIM YONG-GOO (KR)
LEE JONG-MI (KR)
HWANG INSIK (KR)
Application Number:
PCT/KR2023/005884
Publication Date:
November 09, 2023
Filing Date:
April 28, 2023
Export Citation:
Assignee:
CATHOLIC UNIV KOREA IND ACADEMIC COOPERATION FOUNDATION (KR)
International Classes:
G16B30/10; C12Q1/6869; G16B40/10
Foreign References:
| KR20160039386A | 2016-04-11 | |||
| US20190172554A1 | 2019-06-06 | |||
| KR20160056841A | 2016-05-20 |
Other References:
TSAI HARRISON K., BRACKETT DIANE G., SZETO DAVID, FRAZIER RYAN, MACLEAY ALLISON, DAVINENI PHANI, MANNING DANIELLE K., GARCIA ELIZA: "Targeted Informatics for Optimal Detection, Characterization, and Quantification of FLT3 Internal Tandem Duplications Across Multiple Next-Generation Sequencing Platforms", THE JOURNAL OF MOLECULAR DIAGNOSTICS, AMERICAN SOCIETY FOR INVESTIGATIVE PATHOLOGY AND THE ASSOCIATION FOR MOLECULAR PATHOLOGY, vol. 22, no. 9, 1 September 2020 (2020-09-01), pages 1162 - 1178, XP093003449, ISSN: 1525-1578, DOI: 10.1016/j.jmoldx.2020.06.006
YAN CHAOKUN, HE JUNYI, LUO JUNWEI, WANG JIANLIN, ZHANG GE, LUO HUIMIN: "SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads", FRONTIERS IN GENETICS, vol. 12, no. 665812, 21 April 2021 (2021-04-21), XP093105989, DOI: 10.3389/fgene.2021.665812
YAN CHAOKUN, HE JUNYI, LUO JUNWEI, WANG JIANLIN, ZHANG GE, LUO HUIMIN: "SIns: A Novel Insertion Detection Approach Based on Soft-Clipped Reads", FRONTIERS IN GENETICS, vol. 12, no. 665812, 21 April 2021 (2021-04-21), XP093105989, DOI: 10.3389/fgene.2021.665812
Attorney, Agent or Firm:
WIE, Byoung Gap (KR)
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