Title:
APPARATUS AND METHOD FOR DETECTING SOMATIC MUTATION BY USING MACHINE LEARNING MODEL CONSTRUCTED REFLECTING DEGREE OF NORMAL CELL CONTAMINATION
Document Type and Number:
WIPO Patent Application WO/2023/229085
Kind Code:
A1
Abstract:
A somatic mutation detecting apparatus according to the present invention comprises: a memory for storing a somatic mutation detection program; and a processor for executing the somatic mutation detection program, wherein the somatic mutation detection program detects somatic mutation by using a machine learning model, which detects somatic mutation by using, as learning data, virtual cancer tissue genome data in which cancer tissue genome data and normal tissue genome data are mixed at different proportions, respectively.
Inventors:
BAEK DAE HYUN (KR)
JEON HYEON SEUNG (KR)
AHN JUN HAK (KR)
JEON HYEON SEUNG (KR)
AHN JUN HAK (KR)
Application Number:
PCT/KR2022/007718
Publication Date:
November 30, 2023
Filing Date:
May 31, 2022
Export Citation:
Assignee:
SEOUL NAT UNIV R&DB FOUNDATION (KR)
International Classes:
G16B20/20; C12Q1/6883; G06N20/00; G16B40/00
Foreign References:
| US20190362808A1 | 2019-11-28 | |||
| KR20220019218A | 2022-02-16 |
Other References:
SAHRAEIAN SAYED MOHAMMAD EBRAHIM, FANG LI TAI, MOHIYUDDIN MARGHOOB, HONG HUIXIAO, XIAO WENMING: "Robust Cancer Mutation Detection with Deep Learning Models Derived from Tumor-Normal Sequencing Data", BIORXIV, 11 June 2019 (2019-06-11), XP093112445, Retrieved from the Internet DOI: 10.1101/667261
SAYED MOHAMMAD EBRAHIM SAHRAEIAN, LIU RUOLIN, LAU BAYO, PODESTA KARL, MOHIYUDDIN MARGHOOB, LAM HUGO Y. K.: "Deep convolutional neural networks for accurate somatic mutation detection", NATURE COMMUNICATIONS, vol. 10, no. 1, 4 March 2019 (2019-03-04), XP055636900, DOI: 10.1038/s41467-019-09027-x
ANZAR IRANTZU, SVERCHKOVA ANGELINA, STRATFORD RICHARD, CLANCY TREVOR: "NeoMutate: an ensemble machine learning framework for the prediction of somatic mutations in cancer", BMC MEDICAL GENOMICS, vol. 12, no. 1, 6 December 2019 (2019-12-06), pages 1 - 14, XP055820530, DOI: 10.1186/s12920-019-0508-5
SAYED MOHAMMAD EBRAHIM SAHRAEIAN, LIU RUOLIN, LAU BAYO, PODESTA KARL, MOHIYUDDIN MARGHOOB, LAM HUGO Y. K.: "Deep convolutional neural networks for accurate somatic mutation detection", NATURE COMMUNICATIONS, vol. 10, no. 1, 4 March 2019 (2019-03-04), XP055636900, DOI: 10.1038/s41467-019-09027-x
ANZAR IRANTZU, SVERCHKOVA ANGELINA, STRATFORD RICHARD, CLANCY TREVOR: "NeoMutate: an ensemble machine learning framework for the prediction of somatic mutations in cancer", BMC MEDICAL GENOMICS, vol. 12, no. 1, 6 December 2019 (2019-12-06), pages 1 - 14, XP055820530, DOI: 10.1186/s12920-019-0508-5
Attorney, Agent or Firm:
ERUUM & LEEON INTELLECTUAL PROPERTY LAW FIRM (KR)
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