Digital Genomics Group

Marcos Díaz-Gay Group Leader
T +34 917328000 (Ext 3060)
mdiazg@cnio.es

Research Scientists

Karen Gonçalves

Post-Doctoral Fellows

José Córdoba
María del Pilar Gallego

Graduate Students

Irene Sánchez

Our Group is pursuing a better understanding of the mechanisms behind the accumulation of genomic alterations in human tumours, transforming this knowledge into actionable insights for cancer diagnosis, prognosis, and treatment selection.

We specialise in developing computational methodologies, powered by artificial intelligence (AI), to characterise the molecular processes driving tumour development. By analysing the genomic patterns left by these different processes—known as mutational signatures—and integrating them with patient-specific clinical and epidemiological data, we aim to implement prevention strategies and develop novel clinical biomarkers.

Applying our methods to diverse cohorts of cancer patients, we aim to enhance the current understanding of the mechanisms underlying cancer initiation and progression across different populations worldwide, ultimately leading to more precise and equitable approaches to cancer care.

Recent publications

Basurto-Lozada P, Vázquez-Cruz ME, Molina-Aguilar C, Jiang A, Deacon DC, Cerrato-Izaguirre D, Simonin-Wilmer I, Arriaga-González FG, Contreras-Ramírez KL, Ferro-Rodríguez E, Billington J, Dawson ET, Wong-Ramirez JRC, Ramos-Galguera JI, Álvarez-Cano A, García-Ortega DY, García-Salinas OI, Hidalgo-Miranda A, Cisneros-Villanueva M, Johansson PA, Martínez-Said H, Gallego-García P, Arends MJ, Ferreira I, Tullett M, Olvera-León R, van der Weyden L, Del Castillo Velasco-Herrera M, Roldán-Marín R, Vidaurri de la Cruz H, Tavares-de-la-Paz LA, Hinojosa-Ugarte D, Belote RL, Bishop DT, Díaz-Gay M, Alexandrov LB, Sánchez-Pérez Y, In GK, White RM, Possik PA, Judson-Torres RL, Adams DJ, Robles-Espinoza CD (2026). Ancestry and somatic profile indicate acral melanoma origin and prognosis. Nature 651, 221-230. CNIO Publication.
McElderry JP, Zhang T, Zhao W, Hoang PH, Anyaso-Samuel S, Sang J, Khandekar A, Hartman C, Colón-Matos FJ, Miraftab M, Saha M, Lee O, Sharma S, Jones KM, Zhu B, Díaz-Gay M, Mas L, Arrieta O, Edell ES, Santamaría JM, Schabath MB, Yendamuri S, Manczuk M, Lissowska J, Świątkowska B, Mukeria A, Shangina O, Zaridze D, Holcatova I, Janout V, Mates D, Ognjanovic S, Savic M, Kontic M, Bossé Y, Gould Rothberg BE, Christiani DC, Gaborieau V, Brennan P, Liu G, Hofman P, Wong MP, Leung KC, Chen CY, Hsiung CA, Rothman N, Leduc C, Baine MK, Travis WD, Sholl LM, Joubert P, Homer R, Yang SR, Lan Q, Nowak MA, Wedge DC, Alexandrov LB, Chanock SJ, Vogtmann E, Abnet CC, Shi J, Landi MT. (2026). Microbiome analysis of 940 lung cancers in never-smokers reveals lack of clinically relevant associations. Nat Commun 17, 192. Publication in other institutions.
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 643, 230-240. CNIO Publication.
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 644, 133-144. CNIO Publication.
Zhang T, Zhao W, Wirth C, Díaz-Gay M, Yin J, Cecati M, Marchegiani F, Hoang PH, Leduc C, Baine MK, Travis WD, Sholl LM, Joubert P, Sang J, McElderry JP, Antony M, Klein A, Khandekar A, Hartman C, Rosenbaum J, Colón-Matos FJ, Miraftab M, Saha M, Lee OW, Jones KM, Caporaso NE, Wong MP, Leung KC, Hsiung CA, Chen CY, 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, Savic M, Bossé Y, Rothberg BEG, Christiani DC, Gaborieau V, Brennan P, Liu G, Hofman P, Homer R, Yang SR, Pesatori AC, Consonni D, Yang L, Zhu B, Shi J, Brown K, Rothman N, Chanock SJ, Alexandrov LB, Choi J, Cardelli M, Lan Q, Nowak MA, Wedge DC, Landi MT. (2025). Uncovering the role of LINE-1 in the evolution of lung adenocarcinoma. Nature 650, 230-241. CNIO Publication.
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. Publication in other institutions.
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. Publication in other institutions.
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 157, 1154-1167. Publication in other institutions.
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. Publication in other institutions.
Helderman NC, Yang T, Palles C, Terlouw D, Mei H, Vorderman RHP, Cats D, Díaz-Gay M, Jongmans MCJ, Ramdien A, van de Beek I, Eleveld TF, Green A, Hes FJ, van den Heuvel-Eibrink MM, Van Der Kelen A, Kliesch S, Kuiper RP, Lakeman IMM, Lashley LEELO, Looijenga LHJ, Oud MS, Steingröver J, Tenenbaum-Rakover Y, Tops CM, Tüttelmann F, de Voer RM, Westra D, Wyrwoll MJ, Golubicki M, Antelo M, Bonjoch L, Terradas M, Valle L, Alexandrov LB, Morreau H, van Wezel T, Castellví-Bel S, Goldberg Y, Nielsen M. (2025). Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9. Hum. Genet. Genom. Adv. 6, 100480. CNIO Publication.
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. Publication in other institutions.
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. Publication in other institutions.
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. Publication in other institutions.
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. Publication in other institutions.
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, . Publication in other institutions.