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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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2686e3117c1216c96d7cf6535570821
https://doi.org/10.1101/2023.03.31.23287997
https://doi.org/10.1101/2023.03.31.23287997
