Robert Castelo

Group website

Research Outline

Our research focus 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

Methods development for high-throughput genomics: We develop statistical methods and software for the analysis and comprehension of high-throughput genomics data. An important part of our efforts goes into the implementation and maintenance of open-source software for the R and Bioconductor projects, concretely into the packages GenomicScores, GSVA, qpGraph and VariantFiltering, which collectively were downloaded more than 2,000 times a month during 2020.

 

Clinical genomics: We collaborate with physicians to address questions of clinical relevance. In the last few years, we have been contributing to the identification of blood biomarkers for chronic obstructive pulmonary disease, exploring the presence of genetic modulators of reduced penetrance in pulmonary arterial hypertension and investigating the molecular changes associated with the fetal inflammatory response to an intraamniotic infection in extremely preterm newborns.

 

Team during 2019-20

PhD students: Pau Puigdevall Costa, Daniel Costa Coto, Beatriz Calvo Serra

 

Technicians: Pablo Sebastián Rodríguez

 

Selected publications 

  • Gea J, Pascual S, Castro-Acosta A, Hernández-Carcereny C, Castelo R, Márquez-Martín E, Montón C, Palou A, Faner R, Furlong LI, Seijo L, Sanz F, Torà M, Vilaplana C, Casadevall C, López-Campos JL, Monsó E, Peces-Barba G, Cosío BG, Agustí A (2019) The BIOMEPOC Project: Personalized Biomarkers and Clinical Profiles in Chronic Obstructive Pulmonary Disease. Arch Bronconeumol.;55(2):93-99. doi: 10.1016/j.arbres.2018.07.026. PMID: 30343952

 

  • Puigdevall P, Piccari L, Blanco I, Barberà JA, Geiger D, Badenas C, Milà M, Castelo* R, Madrigal* I (2019) Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension. J Med Genet.;56(7):481-490. doi: 10.1136/jmedgenet-2018-105669. PMID: 30894412

 

  • Roverato A, Castelo R (2020) Path weights in concentration graphs. Biometrika;107(3):705-722. doi: 10.1093/biomet/asaa010.

 

  • Costa D, Bonet N, Solé A, González de Aledo-Castillo JM, Sabidó E, Casals F, Rovira C, Nadal A, Marin JL, Cobo* T, Castelo* R (2020) Genome-wide postnatal changes in immunity following fetal inflammatory response. FEBS J.; in press. doi: 10.1111/febs.15578.
 
 
 
 
 

Common variation upstream from the FIGN gene contributes to its regulation and its role as penetrance modulator in hereditary pulmonary arterial hypertension. Fig. 4 of Puigdevall et al. (2019).