My research activity focuses on the bioinformatic analysis and integration of biological data generated with high-throughput technologies, including bulk and single-cell RNA-seq, WES, WGS, and long-read Nanopore sequencing for genomic and transcriptomic analyses. I develop and integrate computational pipelines for the analysis of these data, with applications to autoimmune, rare, and oncological diseases, and work on improving strategies for interpreting genetic variants and gene expression through molecular interactions and biological pathways.
Research Activities
Long-read sequencing analyses in genomic studies (transcriptional isoforms, complex splicing and structural variants)
Transcriptomic analysis of cancer cells, stem cells, organoids, human and murine tissues in disease models
Long-read sequencing analyses in transcriptomic studies (transcriptional isoforms, complex splicing and structural variants)
Development, application and optimization of automated pipelines for the analysis of genomics, epigenomics and transcriptomics data for large-scale studies.
Deployment and application of automated analysis pipelines for the analysis of bulk, single-cell and spatial transcriptomics data.
