Title:
METHOD FOR ESTABLISHING GENOMIC SCAR MODEL
Document Type and Number:
WIPO Patent Application WO/2022/048082
Kind Code:
A1
Abstract:
A method for establishing a genomic scar model and the use thereof, the method comprising: (1) collecting known positive samples and negative samples to form a training set; (2) analyzing the condition of CNVs in the training set and determining the types and the corresponding number of CNVs; (3) determining BRCAness positive events and BRCAness negative events; and (4) performing training according to the BRCAness positive events and BRCAness negative events in the training set by means of a machine learning method to obtain the weights of CNVs of different types determined in step (2), and then accumulating the weights of CNVs of different types to obtain a genomic scar model for calculating a GSS. By means of the method, the BRCAness status of samples under test can be accurately predicted and an interpretation result can be directly provided according to a genomic scar score.
Inventors:
YANG SHUANG (CN)
DONG HUA (CN)
CHEN XUEJUN (CN)
HUANG HONGWEI (CN)
ZHENG FANGKE (CN)
ZHENG LIMOU (CN)
DONG HUA (CN)
CHEN XUEJUN (CN)
HUANG HONGWEI (CN)
ZHENG FANGKE (CN)
ZHENG LIMOU (CN)
Application Number:
PCT/CN2020/140801
Publication Date:
March 10, 2022
Filing Date:
December 29, 2020
Export Citation:
Assignee:
AMOY DIAGNOSTICS CO LTD (CN)
International Classes:
G16B25/10
Foreign References:
| CN111462817A | 2020-07-28 | |||
| CN103201744A | 2013-07-10 | |||
| US20170091378A1 | 2017-03-30 |
Attorney, Agent or Firm:
SHOUCHUANG JUNHE PATENT AGENT CO., LTD. XIAMEN (CN)
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