Grupo de Genómica Digital

Marcos Díaz-Gay Jefe de Grupo
T +34 000003060 (Ext 3060)
mdiazg@cnio.es

Becarios Post-doctorales

José Córdoba
María del Pilar Gallego

In the Digital Genomics Group we are in pursuit of better understanding the mechanisms behind the accumulation of genomic alterations in human tumours, and transforming this knowledge into actionable insights for cancer diagnosis, prognosis, and treatment selection.

We specialise in developing cutting-edge computational methodologies, powered by artificial intelligence (AI), to characterise the molecular processes driving tumour development. By analysing the genomic patterns left by the different processes generating somatic mutations, known as mutational signatures, and integrating them with patient-specific clinical, epidemiological, and germline genetic data, we aim to implement prevention strategies and develop novel clinical biomarkers. Our approach seeks to enhance the current understanding of the mechanisms underlying cancer initiation and progression, ultimately improving patient outcomes.

We are also committed to applying these innovative methods to diverse cohorts of cancer patients. By doing so, we aim to advance our understanding of the dynamics and evolution of tumours in different populations across the world, exploring variations that may inform more precise and equitable approaches to cancer care.

Publicaciones recientes

Díaz-Gay M, Dos Santos W, Moody S, Kazachkova M, Abbasi A, Steele CD, Vangara R, Senkin S, Wang J, Fitzgerald S, Bergstrom EN, Khandekar A, Otlu B, Abedi-Ardekani B, de Carvalho AC, Cattiaux T, Penha RCC, Gaborieau V, Chopard P, Carreira C, Cheema S, Latimer C, Teague JW, Mukeriya A, Zaridze D, Cox R, Albert M, Phouthavongsy L, Gallinger S, Malekzadeh R, Niavarani A, Miladinov M, Erić K, Milosavljevic S, Sangrajrang S, Curado MP, Aguiar S, Reis RM, Reis MT, Romagnolo LG, Guimarães DP, Holcatova I, Kalvach J, Vaccaro CA, Piñero TA, Świątkowska B, Lissowska J, Roszkowska-Purska K, Huertas-Salgado A, Shibata T, Shiba S, Sangkhathat S, Chitapanarux T, Roshandel G, Ashton-Prolla P, Damin DC, de Oliveira FH, Humphreys L, Lawley TD, Perdomo S, Stratton MR, Brennan P, Alexandrov LB. (2025). Geographic and age variations in mutational processes in colorectal cancer. Nature (in press). Publicación CNIO.
Díaz-Gay M, Zhang T, Hoang PH, Leduc C, Baine MK, Travis WD, Sholl LM, Joubert P, Khandekar A, Zhao W, Steele CD, Otlu B, Nandi SP, Vangara R, Bergstrom EN, Kazachkova M, Pich O, Swanton C, Hsiung CA, Chang IS, Wong MP, Leung KC, Sang J, McElderry JP, Hartman C, Colón-Matos FJ, Miraftab M, Saha M, Lee OW, Jones KM, Gallego-García P, Yang Y, Zhong X, Edell ES, Santamaría JM, Schabath MB, Yendamuri SS, Manczuk M, Lissowska J, Świątkowska B, Mukeria A, Shangina O, Zaridze D, Holcatova I, Mates D, Milosavljevic S, Kontic M, Bossé Y, Rothberg BEG, Christiani DC, Gaborieau V, Brennan P, Liu G, Hofman P, Yang L, Nowak MA, Shi J, Rothman N, Wedge DC, Homer R, Yang SR, Pesatori AC, Consonni D, Lan Q, Zhu B, Chanock SJ, Choi J, Alexandrov LB, Landi MT. (2025). The mutagenic forces shaping the genomes of lung cancer in never smokers. Nature (in press). Publicación CNIO.
Torrens L, Moody S, de Carvalho AC, Kazachkova M, Abedi-Ardekani B, Cheema S, Senkin S, Cattiaux T, Cortez Cardoso Penha R, Atkins JR, Gaborieau V, Chopard P, Carreira C, Abbasi A, Bergstrom EN, Vangara R, Wang J, Fitzgerald S, Latimer C, Diaz-Gay M, Jones D, Teague J, Ribeiro Pinto F, Kowalski LP, Polesel J, Giudici F, de Oliveira JC, Lagiou P, Lagiou A, Vilensky M, Mates D, Mates IN, Arantes LM, Reis R, Podesta JRV, von Zeidler SV, Holcatova I, Curado MP, Canova C, Fabianova E, Rodríguez-Urrego PA, Humphreys L, Alexandrov LB, Brennan P, Stratton MR, Perdomo S. (2025). The complexity of tobacco smoke-induced mutagenesis in head and neck cancer. Nat Genet 57, 884-896. Publicación en otras instituciones.
Zhang T, Sang J, Hoang PH, Zhao W, Rosenbaum J, Johnson KE, Klimczak LJ, McElderry J, Klein A, Wirth C, Bergstrom EN, Díaz-Gay M, Vangara R, Colon-Matos F, Hutchinson A, Lawrence SM, Cole N, Zhu B, Przytycka TM, Shi J, Caporaso NE, Homer R, Pesatori AC, Consonni D, Imielinski M, Chanock SJ, Wedge DC, Gordenin DA, Alexandrov LB, Harris RS, Landi MT. (2025). APOBEC affects tumor evolution and age at onset of lung cancer in smokers. Nat Commun 16, 4711. Publicación en otras instituciones.
Domínguez-Rovira X, Arnau-Collell C, Gonfaus-Ortiz G, Llargués-Sistac G, Muñoz J, Llopis A, Soares de Lima Y, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Cuatrecasas M, Carballal S, López-Novo A, Fernàndez G, Castells A, Bujanda L, Capellà G, Cubiella J, Rodríguez-Alcalde D, Valle L, Balaguer F, Ruiz-Ponte C, Bonjoch L, Castellví-Bel S (2025). Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome. Int J Cancer (in press). Publicación en otras instituciones.
Fixman B, Díaz-Gay M, Qiu C, Margaryan T, Lee B, Chen XS. (2025). Validation of the APOBEC3A-Mediated RNA Single Base Substitution Signature and Proposal of Novel APOBEC1, APOBEC3B, and APOBEC3G RNA Signatures. J Mol Biol 436, 168854. Publicación en otras instituciones.
Senkin S, Moody S, Díaz-Gay M, Abedi-Ardekani B, Cattiaux T, Ferreiro-Iglesias A, Wang J, Fitzgerald S, Kazachkova M, Vangara R, Le AP, Bergstrom EN, Khandekar A, Otlu B, Cheema S, Latimer C, Thomas E, Atkins JR, Smith-Byrne K, Cortez Cardoso Penha R, Carreira C, Chopard P, Gaborieau V, Keski-Rahkonen P, Jones D, Teague JW, Ferlicot S, Asgari M, Sangkhathat S, Attawettayanon W, Świątkowska B, Jarmalaite S, Sabaliauskaite R, Shibata T, Fukagawa A, Mates D, Jinga V, Rascu S, Mijuskovic M, Savic S, Milosavljevic S, Bartlett JMS, Albert M, Phouthavongsy L, Ashton-Prolla P, Botton MR, Silva Neto B, Bezerra SM, Curado MP, Zequi SC, Reis RM, Faria EF, de Menezes NS, Ferrari RS, Banks RE, Vasudev NS, Zaridze D, Mukeriya A, Shangina O, Matveev V, Foretova L, Navratilova M, Holcatova I, Hornakova A, Janout V, Purdue MP, Rothman N, Chanock SJ, Ueland PM, Johansson M, McKay J, Scelo G, Chanudet E, Humphreys L, de Carvalho AC, Perdomo S, Alexandrov LB, Stratton MR, Brennan P. (2024). Geographic variation of mutagenic exposures in kidney cancer genomes. Nature 629, 910-918. Publicación en otras instituciones.
Bergstrom EN, Abbasi A, Díaz-Gay M, Galland L, Ladoire S, Lippman SM, Alexandrov LB. (2024). Deep Learning Artificial Intelligence Predicts Homologous Recombination Deficiency and Platinum Response From Histologic Slides. J Clin Oncol 42, 3550-3560. Publicación en otras instituciones.
Otlu B, Díaz-Gay M, Vermes I, Bergstrom EN, Zhivagui M, Barnes M, Alexandrov LB. (2023). Topography of mutational signatures in human cancer. Cell Reports 42, 112930. Publicación en otras instituciones.
Díaz-Gay M, Vangara R, Barnes M, Wang X, Islam SMA, Vermes I, Duke S, Narasimman NB, Yang T, Jiang Z, Moody S, Senkin S, Brennan P, Stratton MR, Alexandrov LB. (2023). Assigning mutational signatures to individual samples and individual somatic mutations with SigProfilerAssignment. Bioinformatics 39, btad756. Publicación en otras instituciones.
Islam SMA, Díaz-Gay M, Wu Y, Barnes M, Vangara R, Bergstrom EN, He Y, Vella M, Wang J, Teague JW, Clapham P, Moody S, Senkin S, Li YR, Riva L, Zhang T, Gruber AJ, Steele CD, Otlu B, Khandekar A, Abbasi A, Humphreys L, Syulyukina N, Brady SW, Alexandrov BS, Pillay N, Zhang J, Adams DJ, Martincorena I, Wedge DC, Landi MT, Brennan P, Stratton MR, Rozen SG, Alexandrov LB. (2022). Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor. Cell Genomics 2, . Publicación en otras instituciones.