Antonio Rausell's lab

Case-Only Burden Test

Classifier of pathogenic non-coding variants in Mendelian diseases hg38

Federated learning for the pathogenicity classification of genetic variants in a multi-site clinical setting

Gene signature extraction and cell-identity recognition at individual cell level from single-cell RNA-seq.

R/Bioconductor package for the statistical assessment of cell state hierarchies from single-cell RNA-seq data

Machine-learning model for the prioritization of CNVs with uncertainty estimates in rare disease patients

Resources for private and secure Machine Learning and Artificial Intelligence

A webtool for the clinical interpretation of CNVs in rare disease patients