Cargando…
Improved detection of aberrant splicing using the Intron Jaccard Index
Detection of aberrantly spliced genes is an important step in RNA-seq-based rare disease diagnostics. We recently developed FRASER, a denoising autoencoder-based method for aberrant splicing detection that outperformed alternative approaches. However, as FRASER’s three splice metrics are partially r...
| Autores principales: | , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Cold Spring Harbor Laboratory
2023
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104204/ https://www.ncbi.nlm.nih.gov/pubmed/37066374 http://dx.doi.org/10.1101/2023.03.31.23287997 |