Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data
This paper proposed a novel in-silico framework for automatically screening disease-related variants and applied it to over 200,000 transcriptomes, providing an example to acquire medically relevant knowledge from publicly available sequence data.
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-09-01
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| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-022-32887-9 |