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

Journal: Bioinformatics (Oxford, England)
PMID: 36063052

Abstract

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, popular approaches for AGE identification are limited by the use of statistical tests that imply the choice of arbitrary cut-off for significance assessment and the availability of several replicates not always possible in clinical contexts.

Authors

  • Justine Labory
    Université Côte d'Azur, Center of Modeling, Simulation and Interactions, Nice 06000, France.
  • Gwendal Le Bideau
    Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, Institute for Research on Cancer and Aging, Nice (IRCAN), Centre Hospitalier Universitaire (CHU) de Nice, Nice 06200, France.
  • David Pratella
    Center of Modeling, Simulation and Interactions, Université Côte d'Azur, 06200 Nice, France.
  • Jean-Elisée Yao
    Université Côte d'Azur, Center of Modeling, Simulation and Interactions, Nice 06000, France.
  • Samira Ait-El-Mkadem Saadi
    Centre Hospitalier Universitaire (CHU) de Nice, Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, 06200 Nice, France.
  • Sylvie Bannwarth
    Centre Hospitalier Universitaire (CHU) de Nice, Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, 06200 Nice, France.
  • Loubna El-Hami
    Université Côte d'Azur, Center of Modeling, Simulation and Interactions, Nice 06000, France.
  • Véronique Paquis-Fluckinger
    Centre Hospitalier Universitaire (CHU) de Nice, Institute for Research on Cancer and Aging, Nice (IRCAN), Université Côte d'Azur, Inserm U1081, CNRS UMR 7284, 06200 Nice, France.
  • Silvia Bottini
    Center of Modeling, Simulation and Interactions, Université Côte d'Azur, 06200 Nice, France.

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