Inicio | Investigación e innovación | Programas Científicos | Programa de Genómica del Cáncer | Unidad de Bioinformática
Investigadores Científicos
Técnicos de Laboratorio
- Ruth Álvarez
- Daniel Cerdán
- Tomas Di Domenico
- Gonzalo Gómez
- Beatriz Ocaña
- Elena Piñeiro
- Ignacio Sanz
- Laura Serrano
- Francisco José Villena
Bioinformatics is essential for understanding cancer genomics and shaping future cancer therapies. Bioinformatics approaches can transform vast quantities of biological data into comprehensive models, providing insights into cancer and the genotype-phenotype relationships crucial for identifying cancer-driving alterations and therapeutic targets.
The CNIO Bioinformatics Unit is a multidisciplinary team that uses computational methods to solve scientific questions. BU’s objectives include developing computational tools for integrating biological and clinical data, analysing cancer genomes to identify biomarkers and drug response mechanisms, providing bioinformatics support for data analysis, maintaining CNIO’s scientific computing facilities, and offering training in bioinformatics methodologies.
BU is an active node of ELIXIR, leading the Cancer Data Focus Group to enhance cancer genome analysis across Europe.
Publicaciones recientes
- Priego N, de Pablos-Aragoneses A, Perea-García M, Pieri V, Hernandez-Oliver C, Alvaro-Espinosa L, Rojas A, Sanchez O, Steindl A, Caleiras E, Garcia F, Garcia-Martin S, Grana-Castro O, Garcia-Mulero S, Serrano D, Velasco-Beltran P, Jimenez-Lasheras B, Egia-Mendikute L, Rupp L, Stammberger A, Meinhardt M, Chaachou-Charradi A, Martínez-Saez E, Bertero L, Cassoni P, Mangherini L, Pellerino A, Ruda R, Soffietti R, Al-Shahrour F, Saftig P, Sanz-Pamplona R, Schmitz M, Crocker SJ, Calvo A, Palazon A, Group R, Valiente M. (2025). TIMP1 mediates astrocyte-dependent local immunosuppression in brain metastasis acting on infiltrating CD8+ T cells. Cancer Discovery 15, 179-201. Publicación CNIO.
- Rodriguez JM, Maquedano M, Cerdán-Vélez D, Laguillo-Gómez A, Calvo E, Abascal F, Vázquez J, Tress ML. (2025). An audit of the PeptideAtlas database uncovers evidence for repurposed pseudogenes and co-opted retroviral ORFs. Bmc Genomics (in press). Publicación CNIO.
- Tress ML. (2025). The degradation of extended protein isoforms points to a misfiring translation initiation process. Mol Genet Genomics (in press). Publicación CNIO.
- Delgado-López PD, Cárdenas Montes M, Troya García J, Ocaña-Tienda B, Cepeda S, Martínez Martínez R, Corrales-García EM. (2025). Artificial intelligence in neuro-oncology: methodological bases, practical applications and ethical and regulatory issues. Clin Transl Oncol (in press). Publicación CNIO.
- Mellid S, Caleiras E, Martínez-Montes ÁM, Arenas A, Jiménez S, Monteagudo M, Letón R, Radu R, Álvarez-Díaz R, Arroba E, Diaz-Talavera A, Martínez-Puente N, Álvarez-Escolá C, Pineda M, Balbín M, Al-Shahrour F, Rodriguez-Antona C, Montero-Conde C, Leandro-García LJ, Honrado E, Soria-Tristán M, Robledo M, Cascón A, (2025). Molecular profiling unveils genetic complexity and identifies potential new driver mechanisms in head and neck paragangliomas. Genes Dis (in press). Publicación CNIO.
- Riba M, Sala C, Culhane AC, Flobak Å, Patocs A, Boye K, Plevova K, Pospíšilová Š, Gandolfi G, Morelli MJ, Bucci G, Edsjö A, Lassen U, Al-Shahrour F, Lopez-Bigas N, Hovland R, Cuppen E, Valencia A, Poirel HA, Rosenquist R, Scollen S, Arenas Marquez J, Belien J, De Nicolo A, De Maria R, Torrents D, Tonon G. (2024). The 1+Million Genomes Minimal Dataset for Cancer. Nat Genet 56, 733-736. Publicación CNIO.
- Herms A, Fernandez-Antoran D, Alcolea MP, Kalogeropoulou A, Banerjee U, Piedrafita G, Abby E, Valverde-Lopez JA, Ferreira IS, Caseda I, Bejar MT, Dentro SC, Vidal-Notari S, Ong SH, Colom B, Murai K, King C, Mahbubani K, Saeb-Parsy K, Lowe AR, Gerstung M, Jones PH. (2024). Self-sustaining long-term 3D epithelioid cultures reveal drivers of clonal expansion in esophageal epithelium. Nat Genet 56, 2158-2173. Publicación CNIO.
- Rodriguez JM, Abascal F, Cerdán-Vélez D, Gómez LM, Vázquez J, Tress ML. (2024). Evidence for widespread translation of 5′ untranslated regions. Nucleic Acids Res 52, 8112-8126. Publicación CNIO.
- Plata-Gómez AB, de Prado-Rivas L, Sanz A, Deleyto-Seldas N, García F, de la Calle Arregui C, Silva C, Caleiras E, Graña-Castro O, Piñeiro-Yáñez E, Krebs J, Leiva-Vega L, Muñoz J, Jain A, Sabio G, Efeyan A. (2024). Hepatic nutrient and hormone signaling to mTORC1 instructs the postnatal metabolic zonation of the liver. Nat Commun 15, 1878. Publicación CNIO.
- Fernández-García F, Fernández-Rodríguez A, Fustero-Torre C, Piñeiro-Yáñez E, Wang H, Lechuga CG, Callejas S, Álvarez R, Lopez-García A, Esteban-Burgos L, Salmón M, San Román M, Guerra C, Ambrogio Ch, Drosten M, Santamaria D, Al-Shahrour F, Dopazo A, Barbacid M, Musteanu M (2024). Type I interferon signaling pathway enhances immune-checkpoint inhibition in KRAS mutant lung tumors. Proc Natl Acad Sci USA 121, e2402913121. Publicación CNIO.
Open Access - Saraswati S, Martínez P, Serrano R, Mejías D, Graña-Castro O, Álvarez Díaz R, Blasco MA. (2024). Renal fibroblasts are involved in fibrogenic changes in kidney fibrosis associated with dysfunctional telomeres. Exp Mol Med 6, 2216-2230. Publicación CNIO.
- Cerdán-Vélez D, Tress ML. (2024). The T2T-CHM13 reference assembly uncovers essential WASH1 and GPRIN2 paralogues. Bioinform Adv 28, vbae029. Publicación CNIO.
- Chaib S, López-Domínguez JA, Lalinde-Gutiérrez M, Prats N, Marin I, Boix O, García-Garijo A, Meyer K, Muñoz MI, Aguilera M, Mateo L, Stephan-Otto Attolini C, Llanos S, Pérez-Ramos S, Escorihuela M, Al-Shahrour F, Cash TP, Tchkonia T, Kirkland JL, Abad M, Gros A, Arribas J, Serrano M (2024). The efficacy of chemotherapy is limited by intratumoral senescent cells expressing PD-L2. Nat Cancer 5, 448-462. Publicación CNIO.
- Lapuente-Santana Ó, Kant J, Eduati F. (2024). Integrating histopathology and transcriptomics for spatial tumor microenvironment profiling in a melanoma case study. NPJ PRECIS ONCOL 8, 254. Publicación CNIO.
- Nikolski M, Hovig E, Al-Shahrour F, Blomberg N, Scollen S, Valencia A, Saunders G. (2024). Roadmap for a European cancer data management and precision medicine infrastructure. Nat Cancer 5, 367-372. Publicación CNIO.
- Frankish A, Carbonell-Sala S, Diekhans M, Jungreis I, Loveland JE, Mudge JM, Sisu C, Wright JC, Arnan C, Barnes I, Banerjee A, Bennett R, Berry A, Bignell A, Boix C, Calvet F, Cerdán-Vélez D, Cunningham F, Davidson C, Donaldson S, Dursun C, Fatima R, Giorgetti S, Giron CG, Gonzalez JM, Hardy M, Harrison PW, Hourlier T, Hollis Z, Hunt T, James B, Jiang Y, Johnson R, Kay M, Lagarde J, Martin FJ, Gómez LM, Nair S, Ni P, Pozo F, Ramalingam V, Ruffier M, Schmitt BM, Schreiber JM, Steed E, Suner MM, Sumathipala D, Sycheva I, Uszczynska-Ratajczak B, Wass E, Yang YT, Yates A, Zafrulla Z, Choudhary JS, Gerstein M, Guigo R, Hubbard TJP, Kellis M, Kundaje A, Paten B, Tress ML, Flicek (2023). GENCODE: reference annotation for the human and mouse genomes in 2023. Nucleic Acids Res 51, D942. Publicación CNIO.
- Jiménez-Santos MJ, Nogueira-Rodríguez A, Piñeiro-Yáñez E, López-Fernández H, García-Martín S, Gómez-Plana P, Reboiro-Jato M, Gómez-López G, Glez-Peña D, Al-Shahrour F. (2023). PanDrugs2: prioritizing cancer therapies using integrated individual multi-omics data. Nucleic Acids Res 51, W411-W418. Publicación CNIO.
- Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, Torres-Pérez R, Fustero-Torre C, Pulgarín-Alfaro M, Gil E, Letón R, Jiménez S, García-Martín S, Martin MC, Roldán-Romero JM, Lanillos J, Mellid S, Santos M, Díaz-Talavera A, Rubio Á, González P, Hernando B, Bechmann N, Dona M, Calatayud M, Guadalix S, Álvarez-Escolá C, Regojo RM, Aller J, Del Olmo-Garcia MI, López-Fernández A, Fliedner SMJ, Rapizzi E, Fassnacht M, Beuschlein F, Quinkler M, Toledo RA, Mannelli M, Timmers HJ, Eisenhofer G, Rodríguez-Perales S, Domínguez O, Macintyre G, Currás-Freixes M, Rodríguez-Antona C, Cascón A, Leandro-García LJ, Montero-Conde C, Roncador G, García-García JF, Pacak K, Al-Shahrour F, Robledo M. (2023). Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma. Nat Commun 14, 1122. Publicación CNIO.
Open Access - García-Vílchez R, Añazco-Guenkova AM, Dietmann S, López J, Morón-Calvente V, D'Ambrosi S, Nombela P, Zamacola K, Mendizabal I, García-Longarte S, Zabala-Letona A, Astobiza I, Fernández S, Paniagua A, Miguel-López B, Marchand V, Alonso-López D, Merkel A, García-Tuñón I, Ugalde-Olano A, Loizaga-Iriarte A, Lacasa-Viscasillas I, Unda M, Azkargorta M, Elortza F, Bárcena L, Gonzalez-Lopez M, Aransay AM, Di Domenico T, Sánchez-Martín MA, De Las Rivas J, Guil S, Motorin Y, Helm M, Pandolfi PP, Carracedo A, Blanco S. (2023). METTL1 promotes tumorigenesis through tRNA-derived fragment biogenesis in prostate cancer. Mol Can 22, 119. Publicación CNIO.
- Sánchez-Sanz A, García-Martín S, Sabín-Muñoz J, Moreno-Torres I, Elvira V, Al-Shahrour F, García-Grande A, Ramil E, Rodríguez-De la Fuente O, Brea-Álvarez B, García-Hernández R, García-Merino A, Sánchez-López AJ. (2023). Dimethyl fumarate-related immune and transcriptional signature is associated with clinical response in multiple sclerosis-treated patients. Front Inmmunol 14, 1209923. Publicación CNIO.
- Fueyo-Marcos E, Lopez-Pernas G, Fustero-Torre C, Antón ME, Al-Shahrour F, Fernández-Capetillo O, Murga M. (2023). PD-L1ATTAC mice reveal the potential of depleting PD-L1 expressing cells in cancer therapy. Aging (Albany NY) 15, 1791-1807. Publicación CNIO.
- Jutzi JS, Marneth AE, Ciboddo M, Guerra-Moreno A, Jiménez-Santos MJ, Kosmidou A, Dressman JW, Liang H, Hamel R, Lozano P, Rumi E, Doench JG, Gotlib J, Krishnan A, Elf S, Al-Shahrour F, Mullally A (2022). Whole-genome CRISPR screening identifies N-glycosylation as a genetic and therapeutic vulnerability in CALR-mutant MPNs. Blood 140, 1291-1304. Publicación CNIO.
- Kovtonyuk LV, Caiado F, Garcia-Martin S, Manz EM, Helbling PM, Takizawa H, Boettcher S, Al-Shahrour F, Nombela-Arrieta C, Slack E, Manz MG (2022). IL-1 Mediates Microbiome-Induced Inflamm-Ageing of Hematopoietic Stem Cells in Mice. Blood 139, 44-58. Publicación CNIO.
- Jodkowska K, Pancaldi V, Rigau M, Almeida R, Fernández-Justel JM, Graña-Castro O, Rodríguez-Acebes S, Rubio-Camarillo M, Carrillo-de Santa Pau E, Pisano D, Al-Shahrour F, Valencia A, Gómez M, Méndez J. (2022). 3D chromatin connectivity underlies replication origin efficiency in mouse embryonic stem cells. Nucleic Acids Res 50, 12149-12165. Publicación CNIO.
Open Access - Rodriguez JM, Pozo F, Cerdán-Vélez D, Di Domenico T, Vázquez J, Tress ML (2022). APPRIS: selecting functionally important isoforms.. Nucleic Acids Res 50, D54-D59. Publicación CNIO.
- Barradas M, Plaza A, Colmenarejo G, Lázaro I, Costa-Machado LF, Martín-Hernández R, Micó V, López-Aceituno JL, Herranz J, Pantoja C, Tejero H, Diaz-Ruiz A, Al-Shahrour F, Daimiel L, Loria-Kohen V, Ramirez de Molina A, Efeyan A, Serrano M, Pozo OJ, Sala-Vila A, Fernandez-Marcos PJ. (2022). Fatty acids homeostasis during fasting predicts protection from chemotherapy toxicity. Nat Commun 13, 5677. Publicación CNIO.
Open Access - Sanchez-Burgos L, Navarro-González B, García-Martín S, Sirozh O, Mota-Pino J, Fueyo-Marcos E, Tejero H, Antón ME, Murga M, Al-Shahrour F, Fernandez-Capetillo O (2022). Activation of the integrated stress response is a vulnerability for multidrug-resistant FBXW7-deficient cells. EMBO Mol Med 0, e15855. Publicación CNIO.
Open Access - Jutzi JS, Marneth AE, Jiménez-Santos MJ, Hem J, Guerra-Moreno A, Rolles B, Bhatt S, Myers SA, Carr SA, Hong Y, Pozdnyakova O, van Galen P, Al-Shahrour F, Nam AS, Mullally A. (2022). CALR-mutated cells are vulnerable to combined inhibition of the proteasome and the endoplasmic reticulum stress response. Leukemia 37, 359-369. Publicación CNIO.
- Jiménez-Santos MJ, García-Martín S, Fustero-Torre C, Di Domenico T, Gómez-López G, Al-Shahrour F (2022). Bioinformatics roadmap for therapy selection in cancer genomics.. Mol Oncol 16, 3881-3908. Publicación CNIO.
- Rogado J, Pozo F, Troule K, Sánchez-Torres JM, Romero-Laorden N, Mondejar R, Donnay O, Ballesteros A, Pacheco-Barcia V, Aspa J, Al-Shahrour F, Alfranca A, Colomer R. (2022). Peripheral Blood Mononuclear Cells Predict Therapeutic Efficacy of Immunotherapy in NSCLC. Cancers 14, 2898. Publicación CNIO.
- Sanchez-Burgos L, Gómez-López G, Al-Shahrour F, Fernandez-Capetillo O (2022). An in silico analysis identifies drugs potentially modulating the cytokine storm triggered by SARS-CoV-2 infection.. Sci Rep 12, 1626. Publicación CNIO.
Open Access - Rogado J, Pozo F, Troulé K, Sánchez-Torres JM, Romero-Laorden N, Mondejar R, Donnay O, Ballesteros A, Pacheco-Barcia V, Aspa J, Al-Shahrour F, Alfranca A, Colomer R. (2022). Excess weight and anti-PD-1 immune checkpoint inhibitor’s outcomes in non-small cell lung cancer. Clin Transl Oncol 24, 2241-2249. Publicación CNIO.
- Pinel GD, Horder JL, King JR, McIntyre A, Mongan NP, López GG, Benest AV (2022). Endothelial Cell RNA-Seq Data: Differential Expression and Functional Enrichment Analyses to Study Phenotypic Switching. Methods Mol Biol 2441, 369-426. Publicación CNIO.
- Frankish A, Diekhans M, Jungreis I, Lagarde J, Loveland JE, Mudge JM, Sisu C, Wright JC, Armstrong J, Barnes I, Berry A, Bignell A, Boix C, Carbonell Sala S, Cunningham F, Di Domenico T, Donaldson S, Fiddes IT, García Girón C, Gonzalez JM, Grego T, Hardy M, Hourlier T, Howe KL, Hunt T, Izuogu OG, Johnson R, Martin FJ, Martínez L, Mohanan S, Muir P, Navarro FCP, Parker A, Pei B, Pozo F, Riera FC, Ruffier M, Schmitt BM, Stapleton E, Suner MM, Sycheva I, Uszczynska-Ratajczak B, Wolf MY, Xu J, Yang YT, Yates A, Zerbino D, Zhang Y, Choudhary JS, Gerstein M, Guigó R, Hubbard TJP, Kellis M, Paten B, Tress ML, Flicek P (2021). GENCODE 2021. Nucleic Acids Res 49, D916-D923. Publicación CNIO.
- Martinez Gomez L, Pozo F, Walsh TA, Abascal F, Tress ML (2021). The clinical importance of tandem exon duplication-derived substitutions.. Nucleic Acids Res 49, 8232-8246. Publicación CNIO.
- Fustero-Torre C, Jiménez-Santos MJ, García-Martín S, Carretero-Puche C, García-Jimeno L, Ivanchuk V, Di Domenico T, Gómez-López G, Al-Shahrour F (2021). Beyondcell: targeting cancer therapeutic heterogeneity in single-cell RNA-seq data. Genome Med 13, 187. Publicación CNIO.
- Xiong H, Mancini M, Gobert M, Shen S, Furtado GC, Lira SA, Parkhurst CN, Garambois V, Brengues M, Tadokoro CE, Trimarchi T, Gómez-López G, Singh A, Khiabanian H, Minuzzo S, Indraccolo S, Lobry C, Aifantis I, Herranz D, Lafaille JJ, Maraver A (2021). Spleen plays a major role in DLL4-driven acute T-cell lymphoblastic leukemia. Theranostics 11, 1594-1608. Publicación CNIO.
Open Access - Pawluczyk IZA, Didangelos A, Barbour SJ, Er L, Becker JU, Martin R, Taylor S, Bhachu JS, Lyons EG, Jenkins RH, Fraser D, Molyneux K, Perales-Patón J, Saez-Rodriguez J, Barratt J. (2021). Differential expression of microRNA miR-150-5p in IgA nephropathy as a potential mediator and marker of disease progression. Kidney Int 99, 1127-1139. Publicación CNIO.
- García-Jimeno L, Fustero-Torre C, Jiménez-Santos MJ, Gómez-López G, Di Domenico T, Al-Shahrour F (2021). bollito: a flexible pipeline for comprehensive single-cell RNA-seq analyses.. Bioinformatics (in press). Publicación CNIO.
- Jiménez-Alcázar M, Curiel-García Á, Nogales P, Perales-Patón J, Schuhmacher AJ, Galán-Ganga M, Zhu L, Lowe SW, Al-Shahrour F, Squatrito M. (2021). Dianhydrogalactitol Overcomes Multiple Temozolomide Resistance Mechanisms in Glioblastoma. Mol Cancer Ther 20, 1029-1038. Publicación CNIO.
- Kinget L, Roussel E, Lambrechts D, Boeckx B, Vanginderhuysen L, Albersen M, Rodríguez-Antona C, Graña-Castro O, Inglada-Pérez L, Verbiest A, Zucman-Rossi J, Couchy G, Caruso S, Laenen A, Baldewijns M, Beuselinck (2021). MicroRNAs possibly involved in the development of bone metastasis in clear-cell renal cell carcinoma.. Cancers 13, 1554. Publicación CNIO.
- Troulé K, López-Fernández H, García-Martín S, Reboiro-Jato M, Carretero-Puche C, Martorell-Marugán J, Martín-Serrano G, Carmona-Sáez P, Glez-Peña D, Al-Shahrour F, Gómez-López G. (2021). DREIMT: a drug repositioning database and prioritization tool for immunomodulation. Bioinformatics 37, 578-579. Publicación CNIO.
- Martorell-Marugán J, López-Domínguez R, García-Moreno A, Toro-Domínguez D, Villatoro-García JA, Barturen G, Martín-Gómez A, Troule K, Gómez-López G, Al-Shahrour F, González-Rumayor V, Peña-Chilet M, Dopazo J, Sáez-Rodríguez J, Alarcón-Riquelme ME, Carmona-Sáez P (2021). A comprehensive database for integrated analysis of omics data in autoimmune diseases. BMC Bioinformatics 22, 343. Publicación CNIO.
- Pozo F, Martinez-Gomez L, Walsh TA, Rodriguez JM, Di Domenico T, Abascal F, Vazquez J, Tress ML (2021). Assessing the functional relevance of splice isoforms. NAR Genom Bioinform 3, lqab044. Publicación CNIO.