Abstract
Although disease diagnosis have greatly benefited from next generation sequencing technologies, it is still difficult to make the right diagnosis based on purely sequencing technologies for many diseases with complex phenotypes and high genetic heterogeneity. Recently, calculating Human Phenotype Ontology (HPO)-based phenotype semantic similarity has contributed a lot for completing disease diagnosis. However, factors which affect the accuracy of HPO-based semantic similarity have not been evaluated systematically. In this study, we propose a new framework called HPOFactor to evaluate these factors.
| Original language | English |
|---|---|
| Title of host publication | Proceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 |
| Editors | Kevin Burrage, Qian Zhu, Yunlong Liu, Tianhai Tian, Yadong Wang, Xiaohua Tony Hu, Qinghua Jiang, Jiangning Song, Shinichi Morishita, Kevin Burrage, Guohua Wang |
| Publisher | Institute of Electrical and Electronics Engineers Inc. |
| Pages | 1653-1656 |
| Number of pages | 4 |
| ISBN (Electronic) | 9781509016105 |
| DOIs | |
| State | Published - 17 Jan 2017 |
| Event | 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 - Shenzhen, China Duration: 15 Dec 2016 → 18 Dec 2016 |
Publication series
| Name | Proceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 |
|---|
Conference
| Conference | 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 |
|---|---|
| Country/Territory | China |
| City | Shenzhen |
| Period | 15/12/16 → 18/12/16 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
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