Strategic projects

About

GCAT|Genomes For Life, Prospective Population-Cohort Study of the Genomes of Catalonia, is a biomedical project aimed at facilitating the prediction, prevention and personalised treatment of complex and chronic diseases such as diabetes, heart disease, respiratory diseases or cancer. The project started 10 years ago by obtaining biological samples and information on the state of health (medical, clinical, environmental and lifestyle data) of 20,000 volunteers' resident in Catalonia. GCAT monitors the vital process that leads from health to disease, including its progression and treatment. This initiative aims to comprehensively understand the complex interplay among genetics, lifestyle and environmental factors that influence the risk of developing the disease and impact its treatment. The connection of the electronic health records, through the PADRIS program, allows objective monitoring of the 20,000 volunteers in real time with their interaction with Catalonia's public health services.

GCAT research develops a transdisciplinary model for investigating and improving health and its wider determinants, while building a transversal scientific and technological resource to foster transdisciplinary approaches to health challenges. In this sense, the collaborations established with principal actors of region biomedical research ecosystem have been essential in the development of two fundamental aspects of the GCAT project: the creation of a map of genetic variation of the Catalan population, and the FAIRification of the data generated during the GCAT activity. It is important to highlight three critical phases in the implementation of the project: data generation, data availability and data access and translational application of the generated knowledge to clinicians, the research community, volunteers and the broader society.

Keywords: Genome, multiomics, exposome, cohort, digital health, non-comunicable diseases (NCDs).

GCAT

Research lines

Disease, multimorbidity and trajectoires

Complex diseases are caused by a combination of genetic, environmental, and lifestyle factors, most of which have not yet been identified. The vast majority of diseases fall into this category, including a number of adult-onset chronic diseases. From a population-based approach, GCAT aims to define its genetics architecture and underlying causes, its evolution, comorbidities and temporary trajectories, using a multi-omic approach.

COVID-19

Biological and social factors influence COVID-19 disease infection, severity and long-term effects. In 2020, the team defined COVICAT (COVID-19 Cohort of Catalonia), a specific cohort created with GCAT and other Catalan cohorts with the aim to determine the biological and social determinants and effects of the COVID-19 outbreak in the population.

Exposome

Exposome describes the environmental exposures that an individual encounters throughout life. The group aims to characterise the exposome of the GCAT cohort, using epidemiological and environmental modelling tools in order to understand the interplay between genetics and environmental factors in the development of chronic diseases (cardiovascular, metabolic, respiratory and mental health diseases).

Data & digital medicine

The group aims to create a digital-health space to provide a trusted secondary use of healthcare and research data, together with the analytics and data visualisation tools, using the GCAT cohort.

Cohort

Cohort studies are a powerful tool for conducting research in human populations. The group’s aim is to perform the comprehensiveness characterisation of the GCAT cohort to cover all lifespan period of health and disease, with a long-term follow-up and additional informative layers from exposome to genome. Secondary, the group aims to create specialised disease sub-cohorts to cover deeply diseases of interest (GCAT-SAT collection).

Inflammation

Low-grade systemic inflammation is a common hallmark in the most prevalent chronic and infectious diseases in adulthood, being a risk factor in chronic diseases that constitute the greatest burden of the healthcare system in economically developed countries. In the lab, GCAT’s researchers conduct an integrated analysis of exposure and genomic data to develop risk models accounting for inflammatory profiles.

Active projects

COVICAT - CONTENT. Cohorte de COVID-19 en España: dinámica social, salud mental y desigualdades

PI: Manolis Kogevinas (ISGlobal), Rafael de Cid (IGTP)
Funding agency: "la Caixa" Social Research grant
Agency code: SR20-01024
Start date: 2020
End date: 2023

CaIMCO. Biomarcadors proteòmics cardiometabòlics i immunitaris de la Covid-19 per a l'avaluació clínica de la infecció, la gravetat de la malaltia i les complicacions postpandèmiques de salut

PI: Rafael de Cid (IGTP)
Funding agency: La Marató TV3
Agency code: 167/C/2021
Start date: 2022
End date: 2024

IMPaCTT2D. ImpactT2D: una estrategia genómica para implementar medicina de precisión en la diabetes tipo 2

PI: Jorge Ferrer (CRG)
Funding agency: Instituto de Salud Carlos III (ISCIII)
Agency code: PMP21/00067
Start date: 2021
End date: 2024

END-VOC. ENDing COVID 19 Variants of Concern through cohort studies

PI: Rafael de Cid (IGTP) (partnership)
Funding agency: European Union Views
Agency code: PI/101046314
Start date: 2022
End date: 2025
Endvoc - Keeping tabs on SARS-CoV-2

Funded by the European Union Views and opinions expressed are however those of the author(s) only and do not necessarily reflect those of the European Union of European Health and Digital Executive Agency. Neither the European Union nor the granting authority can be held responsible for them.

Collaborative Cohorts Reassembled Data To Study Mechanisms And Longterm Incidence Of Chronic Diseases

PI: Jaume Marrugat (IMIM)
Funding agency: Instituto de Salud Carlos III (ISCIII)
Start date: 2023
End date: 2028
More information

GEPETO. Genome Profiling in the GCAT, an Electronic-Health-Record population-based cohort study to improve prevention, diagnosis and treatment of common diseases by using PRSs

PI Rafael de Cid (IGTP)
Funding agency: MCYT
Agency code TED2021-130626B-I00
Start date: 2023
End date: 2025

IA4T2d. Desarrollo e implementación de modelos integrados de inteligencia artificial para la predicción del riesgo de la Diabetes de Tipo 2

PI: Rafael de Cid (IGTP), David Torrents (BSC)
Funding agency: Planes Complementarios, Instituto de Salud Carlos III (ISCIII)
Agency code: B7251
Start date: 2023
End date: 2024

DATOS-CAT. Implementación y análisis de bases de datos en medicina de precisión

PI: Rafael de Cid (IGTP) (partnership)
Funding agency: Planes Complementarios, Instituto de Salud Carlos III (ISCIII)
Agency code: DATOS-CAT
Start date: 2023
End date: 2025

GeoINF+ project. Genetic study of the impact of gEographic environmental exposure on INFlamatory markers in the adult population

PI: Rafael de Cid (IGTP)
Funding agency: MCYT, ISCIII
Agency code: PI18/01512
Start date: 2019
End date: 2023
GeoInf+: Exposome Study. GCAT Health and Environment



 

CUPID "Crono-nutrición y enfermedades cardiometabólicas: una perspectiva epigenética"

PI: Camille Lassale (ISGlobal)
CoPI: Rafael de Cid (IGTP)
Agency: La Marató TV3
Start date: March 2024
End date: February 2027

Scientific publications

Williams MO, Buekers J, Castaño-Vinyals G, de Cid R, Delgado-Ortiz L, Espinosa A, Garcia-Aymerich J, Koch S, Kogevinas M, Viola M, Whitmarsh L, Chevance G. Climate anxiety and its association with health behaviours and generalized anxiety: An intensive longitudinal study. Br J Health Psychol. 2024 Nov;29(4):1080-1095. DOI: 10.1111/bjhp.12746.

Carreras-Torres R, Galván-Femenía I, Farré X, Cortés B, Díez-Obrero V, Carreras A, Moratalla-Navarro F, Iraola-Guzmán S, Blay N, Obón-Santacana M, Moreno V, de Cid R. Multiomic integration analysis identifies atherogenic metabolites mediating between novel immune genes and cardiovascular risk. Genome Med. 2024 Oct 24;16(1):122. DOI: 10.1186/s13073-024-01397-2.

Cárcel-Márquez J, Muiño E, Gallego-Fabrega C, Cullell N, Lledós M, Llucià-Carol L, Martín-Campos JM, Sobrino T, Campos F, Castillo J, Freijo M, Arenillas JF, Obach V, Álvarez-Sabín J, Molina CA, Ribó M, Jiménez-Conde J, Roquer J, Muñoz-Narbona L, Lopez-Cancio E, Millán M, Diaz-Navarro R, Vives-Bauza C, Serrano-Heras G, Segura T, Ibañez L, Heitsch L, Delgado P, Dhar R, Krupinski J, Prats-Sánchez L, Camps-Renom P, Guasch M, Ezcurra G, Blay N, Sumoy L, de Cid R, Montaner J, Cruchaga C, Lee JM, Martí-Fàbregas J, Férnandez-Cadenas I. Sex-Stratified Genome-Wide Association Study in the Spanish Population Identifies a Novel Locus for Lacunar Stroke. Stroke. 2024 Oct;55(10):2462-2471. DOI: 10.1161/STROKEAHA.124.047833.

Benito GV, Goldberg X, Brachowicz N, Castaño-Vinyals G, Blay N, Espinosa A, Davidhi F, Torres D, Kogevinas M, de Cid R, Petrone P. Machine learning for anxiety and depression profiling and risk assessment in the aftermath of an emergency. Artif Intell Med. 2024 Sep 29;157:102991. DOI: 10.1016/j.artmed.2024.102991.

Saucy A, Coloma F, Olmos S, Åström C, Blay N, Boer JMA, Dadvand P, de Bont J, de Cid R, de Hoogh K, Dimakopoulou K, Gehring U, Huss A, Ibi D, Katsouyanni K, Koppelman G, Ljungman P, Melén E, Nieuwenhuijsen M, Nobile F, Peters A, Pickford R, Vermeulen R, Vienneau D, Vlaanderen J, Wolf K, Yu Z, Samoli E, Stafoggia M, Tonne C; EXPANSE Project Team. Socioeconomic Inequalities in the External Exposome in European Cohorts: The EXPANSE Project. Environ Sci Technol. 2024 Sep 17;58(37):16248-16257. DOI: 10.1021/acs.est.4c01509.

Pons-Muzzo L, de Cid R, Obón-Santacana M, Straif K, Papantoniou K, Santonja I, Kogevinas M, Palomar-Cros A, Lassale C. Sex-specific chrono-nutritional patterns and association with body weight in a general population in Spain (GCAT study). Int J Behav Nutr Phys Act. 2024 Sep 12;21(1):102. DOI: 10.1186/s12966-024-01639-x.

Karachaliou M, Ranzani O, Espinosa A, Iraola-Guzmán S, Castaño-Vinyals G, Vidal M, Jiménez A, Bañuls M, Nogués EA, Aguilar R, Garcia-Aymerich J, de Cid R, Dobaño C, Moncunill G, Kogevinas M. Antibody responses to common viruses according to COVID-19 severity and postacute sequelae of COVID-19. J Med Virol. 2024 Sep;96(9):e29862. DOI: 10.1002/jmv.29862.

Lymperidou A, Martinez-Gonzalez J, Bracons Cucó G, Frid S, de Cid R, Labarga A. DATOS-CAT: OMOP-Common Data Model for the Standardization, Integration and Analysis of Population-Based Biomedical Data in Catalonia. Stud Health Technol Inform. 2024 Aug 22;316:200-201. DOI: 10.3233/SHTI240378.

Boos J, van der Made CI, Ramakrishnan G, Coughlan E, Asselta R, Löscher BS, Valenti LVC, de Cid R, Bujanda L, Julià A, Pairo-Castineira E, Baillie JK, May S, Zametica B, Heggemann J, Albillos A, Banales JM, Barretina J, Blay N, Bonfanti P, Buti M, Fernandez J, Marsal S, Prati D, Ronzoni L, Sacchi N; Spanish/Italian Severe COVID-19 Sequencing group; GenOMICC Investigators; Schultze JL, Riess O, Franke A, Rawlik K, Ellinghaus D, Hoischen A, Schmidt A, Ludwig KU. Stratified analyses refine association between TLR7 rare variants and severe COVID-19. HGG Adv. 2024 Jun 28;5(4):100323. DOI: 10.1016/j.xhgg.2024.100323

Farré X, Blay N, Espinosa A, Castaño-Vinyals G, Carreras A, Garcia-Aymerich J, Cardis E, Kogevinas M, Goldberg X, de Cid R. Decoding depression by exploring the exposome-genome edge amidst COVID-19 lockdown. Sci Rep. 2024 Jun 12;14(1):13562. DOI: 10.1038/s41598-024-64200-7.

Pardo-Cea MA, Farré X, Esteve A, Palade J, Espín R, Mateo F, Alsop E, Alorda M, Blay N, Baiges A, Shabbir A, Comellas F, Gómez A, Arnan M, Teulé A, Salinas M, Berrocal L, Brunet J, Rofes P, Lázaro C, Conesa M, Rojas JJ, Velten L, Fendler W, Smyczynska U, Chowdhury D, Zeng Y, He HH, Li R, Van Keuren-Jensen K, de Cid R, Pujana MA. Biological basis of extensive pleiotropy between blood traits and cancer risk. Genome Med. 2024 Feb 2;16(1):21. DOI: 10.1186/s13073-024-01294-8

Díez-Villanueva A, Martín B, Moratalla-Navarro F, Morón-Duran FD, Galván-Femenía I, Obón-Santacana M, Carreras A, de Cid R, Peinado MA, Moreno V. Identification of intergenerational epigenetic inheritance by whole genome DNA methylation analysis in trios. Sci Rep. 2023 Dec 2;13(1):21266. DOI: 10.1038/s41598-023-48517-3.

Severe COVID-19 GWAS group. Mechanisms by which the cystic fibrosis transmembrane conductance regulator may influence SARS-CoV-2 infection and COVID-19 disease severity. FASEB J. 2023 Nov;37(11):e23220. DOI: 10.1096/fj.202300077R.

COVID-19 Host Genetics Initiative. A second update on mapping the human genetic architecture of COVID-19. Nature. 2023 Sep;621(7977):E7-E26. DOI: 10.1038/s41586-023-06355-3.

Baretta D, Koch S, Cobo I, Castaño-Vinyals G, de Cid R, Carreras A, Buekers J, Garcia-Aymerich J, Inauen J, Chevance G. Resilience characterized and quantified from physical activity data: A tutorial in R. Psychol Sport Exerc. 2023 Mar;65:102361. DOI: 10.1016/j.psychsport.2022.102361.

Lin S, Gao X, Degenhardt F, Qian Y, Liu T, Ramon XF, Hadi SS, Romero-Gómez M, Fernández J, Albillos A, Ferret MB, Bujanda L, Julià A, de Cid R, Asselta R, Franke A, Liu F. Genome-wide epistasis study highlights genetic interactions influencing severity of COVID-19. Eur J Epidemiol. 2023 Aug;38(8):883-889. DOI: 10.1007/s10654-023-01020-5.

Kogevinas M, Karachaliou M, Espinosa A, Aguilar R, Castaño-Vinyals G, Garcia-Aymerich J, Carreras A, Cortés B, Pleguezuelos V, Papantoniou K, Rubio R, Jiménez A, Vidal M, Serra P, Parras D, Santamaría P, Izquierdo L, Cirach M, Nieuwenhuijsen M, Dadvand P, Straif K, Moncunill G, de Cid R, Dobaño C, Tonne C. Long-Term Exposure to Air Pollution and COVID-19 Vaccine Antibody Response in a General Population Cohort (COVICAT Study, Catalonia). Environ Health Perspect. 2023 Apr;131(4):47001. DOI: 10.1289/EHP11989.

Farré X, Blay N, Cortés B, Carreras A, Iraola-Guzmán S, de Cid R. Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort. Genes (Basel). 2023 Jan 5;14(1):149. DOI: 10.3390/genes14010149.

García-Fernández C, Lizano E, Telford M, Olalde Í, de Cid R, Larmuseau MHD, M de Pancorbo M, Calafell F. Y-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition. Sci Rep. 2022 Dec 1;12(1):20708. DOI: 10.1038/s41598-022-25200-7.

Delgado-Ortiz L, Carsin AE, Merino J, Cobo I, Koch S, Goldberg X, Chevance G, Bosch de Basea M, Castaño-Vinyals G, Espinosa A, Carreras A, Cortes Martínez B, Straif K, de Cid R, Kogevinas M, Garcia-Aymerich J. Changes in Population Health-Related Behaviors During a COVID-19 Surge: A Natural Experiment. Ann Behav Med. 2023 Apr 5;57(3):216-226. DOI: 10.1093/abm/kaac054.

Font-Porterias N, García-Fernández C, Aizpurua-Iraola J, Comas D, Torrents D, de Cid R, Calafell F. Sequence diversity of the uniparentally transmitted portions of the genome in the resident population of Catalonia. Forensic Sci Int Genet. 2022 Nov;61:102783. DOI: 10.1016/j.fsigen.2022.102783.

COMPASS Consortium; INVENT Consortium; Dutch Parelsnoer Initiative (PSI) Cerebrovascular Disease Study Group; Estonian Biobank; PRECISE4Q Consortium. Stroke genetics informs drug discovery and risk prediction across ancestries. Nature. 2022 Nov;611(7934):115-123. DOI: 10.1038/s41586-022-05165-3.

Karachaliou M, Moncunill G, Espinosa A, Castaño-Vinyals G, Rubio R, Vidal M, Jiménez A, Prados E, Carreras A, Cortés B, Blay N, Bañuls M, Pleguezuelos V, Melero NR, Serra P, Parras D, Izquierdo L, Santamaría P, Carolis C, Papantoniou K, Goldberg X, Aguilar R, Garcia-Aymerich J, de Cid R, Kogevinas M, Dobaño C. SARS-CoV-2 infection, vaccination, and antibody response trajectories in adults: a cohort study in Catalonia. BMC Med. 2022 Sep 16;20(1):347. DOI: 10.1186/s12916-022-02547-2.

COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19. Nature. 2022 Aug;608(7921):E1-E10. DOI: 10.1038/s41586-022-04826-7.

Cárcel-Márquez J, Muiño E, Gallego-Fabrega C, Cullell N, Lledós M, Llucià-Carol L, Sobrino T, Campos F, Castillo J, Freijo M, Arenillas JF, Obach V, Álvarez-Sabín J, Molina CA, Ribó M, Jiménez-Conde J, Roquer J, Muñoz-Narbona L, Lopez-Cancio E, Millán M, Diaz-Navarro R, Vives-Bauza C, Serrano-Heras G, Segura T, Ibañez L, Heitsch L, Delgado P, Dhar R, Krupinski J, Delgado-Mederos R, Prats-Sánchez L, Camps-Renom P, Blay N, Sumoy L, de Cid R, Montaner J, Cruchaga C, Lee JM, Martí-Fàbregas J, Férnandez-Cadenas I. A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype. Front Cardiovasc Med. 2022 Jul 8;9:940696. DOI: 10.3389/fcvm.2022.940696.

COVICAT study group, Aachen Study (COVAS). Detailed stratified GWAS analysis for severe COVID-19 in four European populations. Hum Mol Genet. 2022 Nov 28;31(23):3945-3966. DOI: 10.1093/hmg/ddac158.

Goldberg X, Castaño-Vinyals G, Espinosa A, Carreras A, Liutsko L, Sicuri E, Foraster M, O'Callaghan-Gordo C, Dadvand P, Moncunill G, Dobaño C, Cortés B, Pleguezuelos V, Straif K, Garcia-Aymerich J, de Cid R, Cardis E, Kogevinas M. Mental health and COVID-19 in a general population cohort in Spain (COVICAT study). Soc Psychiatry Psychiatr Epidemiol. 2022 Dec;57(12):2457-2468. DOI: 10.1007/s00127-022-02303-0.

GenOMICC investigators; 23andMe investigators; COVID-19 Human Genetics Initiative. Whole-genome sequencing reveals host factors underlying critical COVID-19. Nature. 2022 Jul;607(7917):97-103. DOI: 10.1038/s41586-022-04576-6.

Valls-Margarit J, Galván-Femenía I, Matías-Sánchez D, Blay N, Puiggròs M, Carreras A, Salvoro C, Cortés B, Amela R, Farre X, Lerga-Jaso J, Puig M, Sánchez-Herrero JF, Moreno V, Perucho M, Sumoy L, Armengol L, Delaneau O, Cáceres M, de Cid R, Torrents D. GCAT'Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing. Nucleic Acids Res. 2022 Mar 21;50(5):2464-2479. DOI: 10.1093/nar/gkac076.

Farré X, Espín R, Baiges A, Blommaert E, Kim W, Giannikou K, Herranz C, Román A, Sáez B, Casanova Á, Ancochea J, Valenzuela C, Ussetti P, Laporta R, Rodríguez-Portal JA, van Moorsel CHM, van der Vis JJ, Quanjel MJR, Tena-Garitaonaindia M, Sánchez de Medina F, Mateo F, Molina-Molina M, Won S, Kwiatkowski DJ, de Cid R, Pujana MA. Evidence for shared genetic risk factors between lymphangioleiomyomatosis and pulmonary function. ERJ Open Res. 2022 Jan 24;8(1):00375-2021. DOI: 10.1183/23120541.00375-2021.

Rofes P, Pineda M, Feliubadaló L, Menéndez M, de Cid R, Gómez C, Montes E, Capellá G, Brunet J, Del Valle J, Lázaro C. RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant. Sci Rep. 2021 Nov 25;11(1):22948. DOI: 10.1038/s41598-021-02465-y.

Kogevinas M, Castaño-Vinyals G, Karachaliou M, Espinosa A, de Cid R, Garcia-Aymerich J, Carreras A, Cortés B, Pleguezuelos V, Jiménez A, Vidal M, O'Callaghan-Gordo C, Cirach M, Santano R, Barrios D, Puyol L, Rubio R, Izquierdo L, Nieuwenhuijsen M, Dadvand P, Aguilar R, Moncunill G, Dobaño C, Tonne C. Ambient Air Pollution in Relation to SARS-CoV-2 Infection, Antibody Response, and COVID-19 Disease: A Cohort Study in Catalonia, Spain (COVICAT Study). Environ Health Perspect. 2021 Nov;129(11):117003. DOI: 10.1289/EHP9726.

Karachaliou M, Moncunill G, Espinosa A, Castaño-Vinyals G, Jiménez A, Vidal M, Santano R, Barrios D, Puyol L, Carreras A, Mayer L, Rubio R, Cortés B, Pleguezuelos V, O'Callaghan-Gordo C, Fossati S, Rivas I, Casabonne D, Vrijheid M, Izquierdo L, Aguilar R, Basagaña X, Garcia-Aymerich J, de Cid R, Dobaño C, Kogevinas M. Infection induced SARS-CoV-2 seroprevalence and heterogeneity of antibody responses in a general population cohort study in Catalonia Spain. Sci Rep. 2021 Nov 3;11(1):21571. DOI: 10.1038/s41598-021-00807-4.

Franco S, Horneros J, Soldevila L, Ouchi D, Galván-Femenía I, de Cid R, Tenesa M, Bechini J, Perez R, Llibre JM, Clotet B, Tural C, Martínez MA. Single nucleotide polymorphisms in PNPLA3, ADAR-1 and IFIH1 are associated with advanced liver fibrosis in patients co-infected with HIV-1//hepatitis C virus. AIDS. 2021 Dec 1;35(15):2497-2502. DOI: 10.1097/QAD.0000000000003066.

Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component. J Med Genet. 2022 Jul;59(7):678-686. DOI: 10.1136/jmedgenet-2020-107548.

COVID-19 Host Genetics Initiative. Mapping the human genetic architecture of COVID-19. Nature. 2021 Dec;600(7889):472-477. DOI: 10.1038/s41586-021-03767-x.

Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort. Genes (Basel). 2021 Jan 23;12(2):150. DOI: 10.3390/genes12020150.

Galván-Femenía I, Barceló-Vidal C, Sumoy L, Moreno V, de Cid R, Graffelman J. A likelihood ratio approach for identifying three-quarter siblings in genetic databases. Heredity (Edinb). 2021 Mar;126(3):537-547. DOI: 10.1038/s41437-020-00392-8.

Stradella A, Del Valle J, Rofes P, Vargas-Parra G, Salinas M, González S, Montes E, López-Doriga A, Gómez C, de Cid R, Darder E, Teulé A, Solanes A, Munté E, Capellà G, Pineda M, Feliubadaló L, Brunet J, Lázaro C. ERCC3, a new ovarian cancer susceptibility gene? Eur J Cancer. 2020 Dec;141:1-8. DOI: 10.1016/j.ejca.2020.09.023.

Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients. Hum Mutat. 2020 Dec;41(12):2128-2142. DOI: 10.1002/humu.24110.

Palomero L, Galván-Femenía I, de Cid R, Espín R, Barnes DR, Cimba, Blommaert E, Gil-Gil M, Falo C, Stradella A, Ouchi D, Roso-Llorach A, Violan C, Peña-Chilet M, Dopazo J, Extremera AI, García-Valero M, Herranz C, Mateo F, Mereu E, Beesley J, Chenevix-Trench G, Roux C, Mak T, Brunet J, Hakem R, Gorrini C, Antoniou AC, Lázaro C, Pujana MA. Immune Cell Associations with Cancer Risk. iScience. 2020 Jul 24;23(7):101296. DOI: 10.1016/j.isci.2020.101296.

Severe Covid-19 GWAS Group. Genomewide Association Study of Severe Covid-19 with Respiratory Failure. N Engl J Med. 2020 Oct 15;383(16):1522-1534. DOI: 10.1056/NEJMoa2020283.

Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers (Basel). 2020 Mar 30;12(4):829. DOI: 10.3390/cancers12040829.

Pujantell M, Badia R, Galván-Femenía I, Garcia-Vidal E, de Cid R, Alcalde C, Tarrats A, Piñol M, Garcia F, Chamorro AM, Revollo B, Videla S, Parés D, Corral J, Tural C, Sirera G, Esté JA, Ballana E, Riveira-Muñoz E. ADAR1 function affects HPV replication and is associated to recurrent human papillomavirus-induced dysplasia in HIV coinfected individuals. Sci Rep. 2019 Dec 27;9(1):19848. DOI: 10.1038/s41598-019-56422-x.

Blay N, Casas E, Galván-Femenía I, Graffelman J, de Cid R, Vavouri T. Assessment of kinship detection using RNA-seq data. Nucleic Acids Res. 2019 Dec 2;47(21):e136. DOI: 10.1093/nar/gkz776.

Graffelman J, Galván Femenía I, de Cid R, Barceló Vidal C. A Log-Ratio Biplot Approach for Exploring Genetic Relatedness Based on Identity by State. Front Genet. 2019 Apr 24;10:341. DOI: 10.3389/fgene.2019.00341.

Valdés MG, Galván-Femenía I, Ripoll VR, Duran X, Yokota J, Gavaldà R, Rafael-Palou X, de Cid R. Pipeline design to identify key features and classify the chemotherapy response on lung cancer patients using large-scale genetic data. BMC Syst Biol. 2018 Nov 20;12(Suppl 5):97. DOI: 10.1186/s12918-018-0615-5.

Amell A, Roso-Llorach A, Palomero L, Cuadras D, Galván-Femenía I, Serra-Musach J, Comellas F, de Cid R, Pujana MA, Violán C. Disease networks identify specific conditions and pleiotropy influencing multimorbidity in the general population. Sci Rep. 2018 Oct 29;8(1):15970. DOI: 10.1038/s41598-018-34361-3.

Galván-Femenía I, Guindo M, Duran X, Calabuig-Fariñas S, Mercader JM, Ramirez JL, Rosell R, Torrents D, Carreras A, Kohno T, Jantus-Lewintre E, Camps C, Perucho M, Sumoy L, Yokota J, de Cid R. Genomic profiling in advanced stage non-small-cell lung cancer patients with platinum-based chemotherapy identifies germline variants with prognostic value in SMYD2. Cancer Treat Res Commun. 2018;15:21-31. DOI: 10.1016/j.ctarc.2018.02.003.

Galván-Femenía I, Obón-Santacana M, Piñeyro D, Guindo-Martinez M, Duran X, Carreras A, Pluvinet R, Velasco J, Ramos L, Aussó S, Mercader JM, Puig L, Perucho M, Torrents D, Moreno V, Sumoy L, de Cid R. Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. J Med Genet. 2018 Nov;55(11):765-778. DOI: 10.1136/jmedgenet-2018-105437.

Pujantell M, Franco S, Galván-Femenía I, Badia R, Castellví M, Garcia-Vidal E, Clotet B, de Cid R, Tural C, Martínez MA, Riveira-Muñoz E, Esté JA, Ballana E. ADAR1 affects HCV infection by modulating innate immune response. Antiviral Res. 2018 Aug;156:116-127. DOI: 10.1016/j.antiviral.2018.05.012.

Obón-Santacana M, Vilardell M, Carreras A, Duran X, Velasco J, Galván-Femenía I, Alonso T, Puig L, Sumoy L, Duell EJ, Perucho M, Moreno V, de Cid R. GCAT'Genomes for life: a prospective cohort study of the genomes of Catalonia. BMJ Open. 2018 Mar 27;8(3):e018324. DOI: 10.1136/bmjopen-2017-018324.

News

IGTP and EATRIS strengthen ties with a symposium focused on driving translational research with patient involvement

IGTP has held an event to share resources, perspectives, and advancements as a centre linked to EATRIS, with a special focus on patient involvement in biomedical research.

- Research

Discovery of a potential molecular mechanism to reduce cardiovascular risk in 6 genetic regions through the metabolites they regulate

Researchers from five Catalan research centres have collaborated on a large-scale genetic study, identifying genetic loci and therapeutic targets that could reduce cardiovascular risk by modulating blood metabolites.

+ News

Contact

Rafael de Cid

930330542 (6200)

rdecid(ELIMINAR)@igtp.cat