Abstract
DNA methylation provides a pivotal layer of epigenetic regulation in eukaryotes that has significant involvement for numerous biological processes in health and disease. Recent long-read sequencing technology including Oxford Nanopore sequencing and PacBio HiFi sequencing greatly expands the capacity of long-range, single-molecule, and direct DNA modification detection from reads without extra laboratory techniques. A growing number of analytical pipelines including base-calling and 5mC methylation detection have been developed, but there is still a lack of comprehensive evaluations of the two sequencing technologies. Here, we assess the performance of different methylation-calling pipelines based on Nanopore and HiFi sequencing datasets to provide a systematic evaluation to guide researchers on how to select the long-read sequencing technologies in performing human epigenome-wide studies.
| Original language | English |
|---|---|
| Title of host publication | Proceedings - 2022 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2022 |
| Editors | Donald Adjeroh, Qi Long, Xinghua Shi, Fei Guo, Xiaohua Hu, Srinivas Aluru, Giri Narasimhan, Jianxin Wang, Mingon Kang, Ananda M. Mondal, Jin Liu |
| Publisher | Institute of Electrical and Electronics Engineers Inc. |
| Pages | 220-225 |
| Number of pages | 6 |
| ISBN (Electronic) | 9781665468190 |
| DOIs | |
| State | Published - 2022 |
| Externally published | Yes |
| Event | 2022 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2022 - Las Vegas, United States Duration: 6 Dec 2022 → 8 Dec 2022 |
Publication series
| Name | Proceedings - 2022 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2022 |
|---|
Conference
| Conference | 2022 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2022 |
|---|---|
| Country/Territory | United States |
| City | Las Vegas |
| Period | 6/12/22 → 8/12/22 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- evaluation
- long-read sequencing
- methylation
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