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...

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Detalles Bibliográficos
Autores principales: Scheller, Ines F., Lutz, Karoline, Mertes, Christian, Yépez, Vicente A., Gagneur, Julien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
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

Internet

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

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