The Functional Genomics Team specialises in the analysis of transcriptomic and epigenomic data using a broad range of high-throughput sequencing technologies, including bulk RNA-seq, EM-seq, single-cell, and long-read sequencing (ONT, Pacbio).
 

We are particularly interested in the development and application of integrated multi-omics approaches to resolve rare disease cases, leveraging computational workflows that detect aberrant molecular events at the RNA and DNA methylation levels to prioritise candidate genes and identify causal variants. A complementary research line focuses on the aberrant activation of transposable elements in ageing and disease, with a strong emphasis on the biology and regulation of human endogenous retroviruses (HERVs). 

 

The Team also provides advanced bioinformatics support to external collaborators working across diverse biological systems and disease areas (human, mouse, livestock, plants and pathogens).

 

The Team currently participates in national (IMPaCT, SEED-ALS, OMICS-RD, xPAND) and international initiatives (SOLVE-RD, ERDERA, 3TR) that advance precision medicine in rare disease, hereditary cancer and immune-mediated disorders through RNA-seq and integrated multi-omics approaches.

 

Anna Esteve

Team Leader

Marc Dabad

Bioinformatics Technician

Eloi Casals

Software Engineer

Beatriz Martín

Bioinformatics Technician

Tomàs Montserrat

PhD Student

Matteo Orlandi

Bioinformatics Technician
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