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@RausellLab Antonio Rausell's lab

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    14 repositories

    • NCBoost-2

      Public
      Classifier of pathogenic non-coding variants in Mendelian diseases hg38
      Jupyter Notebook
      •
      GNU General Public License v3.0
      •0•0•0•0•Updated Aug 7, 2025Aug 7, 2025

    • FedLearnVar

      Public
      Federated learning for the pathogenicity classification of genetic variants in a multi-site clinical setting
      Jupyter Notebook
      •
      GNU General Public License v3.0
      •0•0•0•0•Updated Aug 7, 2025Aug 7, 2025

    • COBT

      Public
      Case-Only Burden Test
      Python
      •
      GNU General Public License v3.0
      •0•0•0•0•Updated May 23, 2025May 23, 2025

    • CelliD

      Public
      Gene signature extraction and cell-identity recognition at individual cell level from single-cell RNA-seq.
      R
      •
      GNU General Public License v3.0
      •19•95•9•0•Updated Nov 30, 2023Nov 30, 2023

    • Sincell

      Public
      R/Bioconductor package for the statistical assessment of cell state hierarchies from single-cell RNA-seq data
      R
      •1•0•0•0•Updated Jul 6, 2023Jul 6, 2023

    • Recommended_learning_ressources

      Public
      3•10•0•0•Updated Nov 9, 2022Nov 9, 2022

    • CNVscore

      Public
      Machine-learning model for the prioritization of CNVs with uncertainty estimates in rare disease patients
      R
      •
      GNU General Public License v3.0
      •0•5•0•0•Updated Nov 9, 2022Nov 9, 2022

    • Resources_for_private_and_secure_AI

      Public
      Resources for private and secure Machine Learning and Artificial Intelligence
      1•12•0•0•Updated Jun 13, 2022Jun 13, 2022

    • CNVxplorer

      Public
      A webtool for the clinical interpretation of CNVs in rare disease patients
      bioinformaticscnvs
      R
      •
      GNU General Public License v3.0
      •0•12•1•0•Updated Jun 10, 2022Jun 10, 2022

    • CellIDPaperScript

      Public
      R
      •3•6•0•0•Updated Jun 10, 2021Jun 10, 2021

    • Tiresias

      Public
      Computational framework for disease gene prediction through supervised learning on multiplex biological networks
      Python
      •
      Apache License 2.0
      •1•5•0•0•Updated May 28, 2021May 28, 2021

    • Omni

      Public
      0•0•0•0•Updated Mar 26, 2021Mar 26, 2021

    • NCBoost

      Public
      Classifier of pathogenic non-coding variants in Mendelian diseases
      Python
      •
      Apache License 2.0
      •2•9•1•0•Updated Feb 6, 2020Feb 6, 2020

    • NCtools

      Public
      Additional features for NCBoost analysis https://doi.org/10.1186/s13059-019-1634-2
      Python
      •
      Apache License 2.0
      •1•1•0•0•Updated Jul 22, 2019Jul 22, 2019