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Using secondary structure to predict the effects of genetic variants on alternative splicing
Accurate interpretation of genomic variants that alter RNA splicing is critical to precision medicine. We present a computational framework, PEPSI (Prediction of variant Effect on Percent Spliced In), that predicts the splicing impact of coding and noncoding variants for the Fifth Critical Assessmen...
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| Udgivet i: | Hum Mutat |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2019
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7288985/ https://ncbi.nlm.nih.gov/pubmed/31074545 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23790 |
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