Functional Genomics

Functional Genomics

The research focus of the Functional Genomics group led by Robert Castelo is the development of statistical and computational methods and pipelines for the analysis and comprehension of high-throughput genetics and genomics data, motivated by questions of biological and clinical relevance.

Research lines

  • Reverse engineering the genotype-phenotype map

Genes and molecules are activated in a coordinated manner under finely tuned regulatory programs. High-throughput genetics and genomics data offer a unique opportunity to witness this phenomenon by monitoring the simultaneous action of thousands of genes and millions of genotypes. We try to embrace this complexity by developing computational tools that enable estimating multivariate statistical models from these data, which have the potential to disentangle direct from indirect or spurious effects.

  • Variant annotation and filtration

The increased number of individuals profiled by genomics technologies steadily uncovers an increasing number of cases in which pathogenic mechanisms work conditionally on the cellular context where genetic alterations take place, hindering the interpretation of individual mutations. In collaboration with clinical geneticists, we are trying to approach this problem by developing novel methodologies for the annotation and filtration of genetic variants.

  • Prematurity and fetal immunity

Intrauterine inflammation and infection increase the risk for perinatal mortality and morbidity and its frequency increases with lower gestational age at birth. In collaboration with pediatricians and obstetricians, we study the transcriptome and proteome of extremely preterm newborns (< 28 weeks of gestational age) to try to understand the extent of molecular changes that participate in the fetal inflammatory response to an intrauterine infection and how these changes lead to adverse neonatal outcome.

Website of group: https://functionalgenomics.upf.edu/index.html

Research groups

Microbiome Research

The Microbiome Research Group led by Mireia Valles-Colomer analyses the human body-associated microbial communities (microbiome)...

Comparative and functional genomics

During the last years the genomic revolution has provided unique research opportunities unthought-of before....

Structural Bioinformatics

Led by Baldo Oliva and dedicated to the analysis and modelling of protein 3D structures,...

PharmacoInformatics

Led by Manuel Pastor and focused on development and application of pharmacoinformatic methods in the...

Integrative Biomedical Informatics

Led by Ferran Sanz and dedicated to the generation and execution of research initiatives for...

GPCR Drug Discovery

Led by Jana Selent and focussed on the functionality of G protein coupled receptors (GPCRs)...