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ABEILLE: a novel method for ABerrant Expression Identification empLoying machine LEarning from RNA-sequencing data

MOTIVATION: Current advances in omics technologies are paving the diagnosis of rare diseases proposing a complementary assay to identify the responsible gene. The use of transcriptomic data to identify aberrant gene expression (AGE) has demonstrated to yield potential pathogenic events. However, pop...

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Detalles Bibliográficos
Autores principales:	Labory, Justine, Le Bideau, Gwendal, Pratella, David, Yao, Jean-Elisée, Ait-El-Mkadem Saadi, Samira, Bannwarth, Sylvie, El-Hami, Loubna, Paquis-Fluckinger, Véronique, Bottini, Silvia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Original Papers
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9563686/ https://www.ncbi.nlm.nih.gov/pubmed/36063052 http://dx.doi.org/10.1093/bioinformatics/btac603

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