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Gene Ranking based on Paths from Phenotypes to Genes on Knowledge Graph

Published: 24 January 2022 Publication History

Abstract

Whole exome sequencing has been widely used to make a diagnosis of a genetic disease efficiently, especially for rare diseases. To support the identification of the gene that causes the disease, a gene ranking system from symptoms is essential to narrow down many genes obtained from exome analysis. Therefore, this paper proposed a method for ranking genes by symptoms based on paths from phenotypes to genes on a knowledge graph. First, we constructed a knowledge graph from resources about phenotypes, diseases, and genes. Then, we designed an algorithm to rank genes from phenotypes by following paths from phenotypes to genes on the knowledge graph. Furthermore, we evaluated the performance of the proposed method by comparing it with similar existing tools.

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  • (2024)Integrating Knowledge Graphs for Enhanced Drilling Accident Retrieval and Risk Prediction in China's Oil and Gas Industry2024 IEEE 6th Advanced Information Management, Communicates, Electronic and Automation Control Conference (IMCEC)10.1109/IMCEC59810.2024.10574925(110-114)Online publication date: 24-May-2024

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          cover image ACM Other conferences
          IJCKG '21: Proceedings of the 10th International Joint Conference on Knowledge Graphs
          December 2021
          204 pages
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          Published: 24 January 2022

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          1. gene ranking
          2. knowledge graph
          3. phenotype

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          • (2024)Integrating Knowledge Graphs for Enhanced Drilling Accident Retrieval and Risk Prediction in China's Oil and Gas Industry2024 IEEE 6th Advanced Information Management, Communicates, Electronic and Automation Control Conference (IMCEC)10.1109/IMCEC59810.2024.10574925(110-114)Online publication date: 24-May-2024

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