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 643, 230-240. 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 644, 133-144. Publicación CNIO.
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 (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 157, 1154-1167. Publicación en otras instituciones.
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. Publicación CNIO.
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.
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.
