Omics and Related Technologies
RESEARCH AREA
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Genomics
The Genomics research teams at the Institute of Biomedical Technologies advance the understanding of genome structure, function, and variability through integrated experimental and computational approaches. Activities span multiple layers of genomic investigation, from data generation to high‑resolution molecular interpretation. Together, these activities strengthen ITB’s contribution to precision medicine, molecular diagnostics, and the broader understanding of genomic complexity in health and disease.
Research Activities
Computational analysis and pipeline development for genomics data (bulk, single-cell, spatial genomics data)
Genome-wide association studies (GWAS) for the identification of germline variants associated with diseases, other binary phenotypes and quantitative traits.
Genome assembly of high resolution, haplotype resolved genomes and polymorphism characterization
Analysis of genome plasticity and structural genomics for characterization of extrachromosomal DNA markers and complex genomic rearrangements in cancer cells
Long-read sequencing analyses in genomic studies (transcriptional isoforms, complex splicing and structural variants)
Nucleic acids isolation from different and complex matrices (e.g. cells, tissues, blood, fecis, saliva) and library preparation for high-throughput sequencing.
Comparative genomics and gene network analysis to infer novel genes associated with specific human traits
