Title:
METHOD FOR DIAGNOSING CANCER AND PREDICTING TYPE OF CANCER BASED ON SINGLE NUCLEOTIDE VARIANT IN CELL-FREE DNA
Document Type and Number:
WIPO Patent Application WO/2023/244046
Kind Code:
A1
Abstract:
Disclosed is a method of diagnosing cancer and predicting the type of cancer based on a single nucleotide variant in a cell-free nucleic acid including extracting nucleic acids from a biological sample to obtain sequence information, extracting cancer-specific single nucleotide variants through filtering based on aligned reads, calculating the regional mutation density of single nucleotide variants and the frequency of mutation signature of single nucleotide variants, and inputting the calculated values into a trained artificial intelligence model to analyze output values. This method is capable of exhibiting high sensitivity and accuracy compared to other methods of diagnosing cancer and predicting the type of cancer using genetic information of cell-free nucleic acids, and of ensuring the same level of sensitivity and accuracy as cancer-tissue-cell-based methods, and can be usefully applied to other analyses using single nucleotide variants in cell-free nucleic acids.
Inventors:
CHOI JUNG KYOON (KR)
KIM GYUHEE (KR)
CHO EUN HAE (KR)
KI CHANG-SEOK (KR)
LEE JUNNAM (KR)
KIM GYUHEE (KR)
CHO EUN HAE (KR)
KI CHANG-SEOK (KR)
LEE JUNNAM (KR)
Application Number:
PCT/KR2023/008310
Publication Date:
December 21, 2023
Filing Date:
June 15, 2023
Export Citation:
Assignee:
GC GENOME CORP (KR)
International Classes:
C12Q1/6886; C12Q1/6827; G16B40/00
Foreign References:
| US20210043275A1 | 2021-02-11 | |||
| US20210172022A1 | 2021-06-10 | |||
| US20220136062A1 | 2022-05-05 | |||
| US20210265007A1 | 2021-08-26 | |||
| US20210098078A1 | 2021-04-01 |
Other References:
BAE MINGYUN, KIM GYUHEE, LEE TAE-RIM, AHN JIN MO, PARK HYUNWOOK, PARK SOOK RYUN, SONG KI BYUNG, JUN EUNSUNG, OH DONGRYUL, LEE JEON: "Integrative modeling of tumor genomes and epigenomes for enhanced cancer diagnosis by cell-free DNA", NATURE COMMUNICATIONS, NATURE PUBLISHING GROUP, UK, vol. 14, no. 1, UK, XP093118329, ISSN: 2041-1723, DOI: 10.1038/s41467-023-37768-3
Attorney, Agent or Firm:
LEE, Cheo Young et al. (KR)
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