Title:
MONOGENIC DISEASE NAME RECOMMENDATION METHOD AND SYSTEM BASED ON CLINICAL FEATURES AND SEQUENCE VARIATIONS
Document Type and Number:
WIPO Patent Application WO/2021/248695
Kind Code:
A1
Abstract:
A monogenic disease name recommendation method and system based on clinical features and sequence variations, for use in accurately recommending a monogenic disease name matched with the condition of a patient. The method comprises: obtaining medical record information of a patient; comparing gene sequences with a human reference genome to obtain an influence score of each genetic variation; traversing feature sets A corresponding to standard monogenic disease names in a feature relationship database, respectively calculating a set similarity value with each feature set A, performing candidate output on the similar standard monogenic disease names and corresponding genes in a descending order, and constructing a standard monogenic disease name set P; obtaining a plurality of genes corresponding to the monogenic disease names from a preset gene list file, respectively calculating a pathogenicity score of each gene, performing candidate output on the corresponding standard monogenic disease names in a descending order, and constructing a standard monogenic disease name set G; and outputting a recommendation result of the standard monogenic disease names on the basis of an intersection result of the set G and the set P.
Inventors:
MA XU (CN)
CAO ZONGFU (CN)
LUO MINNA (CN)
CHEN CUIXIA (CN)
CAI RUIKUN (CN)
YU YUFEI (CN)
LI QIAN (CN)
CAO ZONGFU (CN)
LUO MINNA (CN)
CHEN CUIXIA (CN)
CAI RUIKUN (CN)
YU YUFEI (CN)
LI QIAN (CN)
Application Number:
PCT/CN2020/111133
Publication Date:
December 16, 2021
Filing Date:
August 25, 2020
Export Citation:
Assignee:
NATIONAL RES INSTITUTE FOR FAMILY PLANNING (CN)
International Classes:
G06K9/62; G16B30/10; G16B20/40
Domestic Patent References:
| WO2002021428A1 | 2002-03-14 |
Foreign References:
| CN109119132A | 2019-01-01 | |||
| CN109086571A | 2018-12-25 |
Other References:
CAO, ZONGFU ET AL.: "Automatic Analysis and Interpretation of Genetic Variations for Monogenic Diseases", JOURNAL OF REPRODUCTIVE MEDICINE, vol. 28, no. 7, 31 July 2019 (2019-07-31), pages 791 - 796, XP055879734, ISSN: 1004-3845
LI, JIANHUA ET AL.: "Review on the Research Progress of Mining of OMIM Data", JOURNAL OF BIOMEDICAL ENGINEERING, vol. 31, no. 6, 31 December 2014 (2014-12-31), pages 1400 - 1404, XP055840474, ISSN: 1001-5515
LI, JIANHUA ET AL.: "Review on the Research Progress of Mining of OMIM Data", JOURNAL OF BIOMEDICAL ENGINEERING, vol. 31, no. 6, 31 December 2014 (2014-12-31), pages 1400 - 1404, XP055840474, ISSN: 1001-5515
Attorney, Agent or Firm:
BEIJING WANHUIDA LAW FIRM (CN)
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