Selected outcomes in 2025

During working and utilization of our large research infrastructure BBMRI.cz were created plenty of unique outcomes. Here we mention some of them:

Chosen results achieved by the operator of the LRI:

Kacová R, Houfek T, Horký O, Kuráň J, Tomášik R, Růžička M, Hrstka R, Nováček V, Dudová Z. Integration, Cataloguing and Management of Biobanking and Clinical Data Using FAIR Genomes Metadata Schema. Data Intelligence. 2025;7(1):163-184. doi: 10.3724/2096-7004.di.2025.0005. (IF2024: 1,9; Q3)
Tomasik R, Konar S, Eklund N, Engels C, Dudova Z, Kacova R, Hrstka R, Holub P. Definitions to data flow: Operationalizing MIABIS in HL7 FHIR. J Biomed Inform. 2025 Sep 27:171:104919. doi: 10.1016/j.jbi.2025.104919. (IF2024: 4,5; Q2)
Jirsa J, Franková V. Základní právní předpoklady pro sekundární využití genomických dat pro vědecké účely. Čas Lék Čes. 2025;164(1):57–62. (no IF)

Chosen results achieved by users of the LRI, bellow are selected 10 of them:

Krizkova J, Polivkova V, Laznicka A, Curik N, Benesova A, Suchankova P, Smazik T, Vysinova V, Mikulenkova D, Klamova H, Markova MS, Srbova D, Zuna J, Zaliova M, Trka J, Salek C, Polakova KM. Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia. Leukemia. 2025 Jul;39(7):1670-1677. doi: 10.1038/s41375-025-02609-3. (IF2024: 13,4; Q1)
Pinc Z, Kundrat D, Kaisrlikova M, Hrustincova A, Vanikova S, Trsova I, Vesela J, Vostry M, Pejsova B, Ransdorfova S, Slamova L, Prochazka T, Lysak D, Jonasova A, Markova MS, Cermak J, Belickova M, Votavova H. Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure. J Clin Immunol. 2025 Nov 5;45(1):150. doi: 10.1007/s10875-025-01951-6. (IF2024: 5,7; Q1)
Vernerová L, Vokurková M, Laiferová NA, Nemec M, Špiritović M, Mytiai O, Oreská S, Klein M, Kubínová K, Horváthová V, Kropáčková T, Wenchich L, Tomčík M, Ukropec J, Ukropcová B, Vencovský J. Vitamin D and its receptor in skeletal muscle are associated with muscle disease manifestation, lipid metabolism and physical fitness of patients with myositis. Arthritis Res Ther. 2025 Mar 4;27(1):48. doi: 10.1186/s13075-025-03516-9. (IF2024: 4,6; Q1)
Bui QH, Stružinská I, Kendall Bártů M, Michálková R, Drozenová J, Fabian P, Hausnerová J, Laco J, Matěj R, Škapa P, Švajdler M, Špůrková Z, Méhes G, Dundr P, Němejcová K. TRPS1 expression in 451 tubo-ovarian tumours: a potential prognostic marker for high-grade serous carcinoma. Pathology. 2025 Dec;57(7):831-837. doi: 10.1016/j.pathol.2025.04.001. (IF2024: 3,0; Q2)
Quesada S, Penault-Llorca F, Matias-Guiu X, Banerjee S, Barberis M, Coleman RL, Colombo N, DeFazio A, McNeish IA, Nogueira-Rodrigues A, Oaknin A, Pignata S, Pujade-Lauraine É, Rouleau É, Ryška A, Van Der Merwe N, Van Gorp T, Vergote I, Weichert W, Wu X, Ray-Coquard I, Pujol P; expert consensus group. Homologous recombination deficiency in ovarian cancer: Global expert consensus on testing and a comparison of companion diagnostics. Eur J Cancer. 2025 Jan 17;215:115169. doi: 10.1016/j.ejca.2024.115169. (IF2024: 7,1; Q1)
Lanickova T, Hensler M, Kasikova L, Vosahlikova S, Angelidou A, Pasulka J, Griebler H, Drozenova J, Mojzisova K, Vankerckhoven A, Laco J, Ryska A, Dundr P, Kocian R, Cibula D, Brtnicky T, Skapa P, Jacob F, Kovar M, Praznovec I, McNeish IA, Halaska MJ, Rob L, Coosemans A, Orsulic S, Galluzzi L, Spisek R, Fucikova J. Chemotherapy Drives Tertiary Lymphoid Structures That Correlate with ICI-Responsive TCF1+CD8+ T Cells in Metastatic Ovarian Cancer. Clin Cancer Res. 2025 Jan 6;31(1):164-180. doi: 10.1158/1078-0432.CCR-24-1594. (IF2024: 10,2; Q1)
Hojný J, Hrudka J, Prouzová Z, Kendall Bártů M, Krkavcová E, Dvořák J, Michálková R, Čapka D, Zavillová N, Matěj R, Waldauf P. Altered TP53, CDKN2A, ATM, EPHA7, POT1, CHEK1, GRIN2A, and EGFR Predict Shorter Survival in Penile Squamous Cell Carcinoma. Mod Pathol. 2025 Apr;38(4):100689. doi: 10.1016/j.modpat.2024.100689. (IF2024: 5,5; Q1)
Sebuyoya R, Sevcikova S, Yusuf B, Bartosik M. Integrating isothermal amplification techniques and LNA-based AI-assisted electrochemical bioassay for analysis of KRAS G12V point mutation. Talanta. 2025 Feb 7;288:127709. doi: 10.1016/j.talanta.2025.127709. (IF2024: 6,1; Q1)
Dragomir MP, Popovici V, Schallenberg S, Čarnogurská M, Horst D, Nenutil R, Bosman F, Budinská E. A quantitative tumor-wide analysis of morphological heterogeneity of colorectal adenocarcinoma. J Pathol Clin Res. 2025 Jul;11(4):e70034. doi: 10.1002/2056-4538.70034. (IF2024: 3,7; Q1)
Piccinno G, Thompson KN, Manghi P, Ghazi AR, Thomas AM, Blanco-Míguez A, Asnicar F, Mladenovic K, Pinto F, Armanini F, Punčochář M, Piperni E, Heidrich V, Fackelmann G, Ferrero G, Tarallo S, Nguyen LH, Yan Y, Keles NA, Tuna BG, Vymetalkova V, Trompetto M, Liska V, Hucl T, Vodicka P, Bencsiková B, Čarnogurská M, Popovici V, Marmorino F, Cremolini C, Pardini B, Cordero F, Song M, Chan AT, Derosa L, Zitvogel L, Huttenhower C, Naccarati A, Budinska E, Segata N. Pooled analysis of 3,741 stool metagenomes from 18 cohorts for cross-stage and strain-level reproducible microbial biomarkers of colorectal cancer. Nat Med. 2025 Jul;31(7):2416-2429. doi: 10.1038/s41591-025-03693-9. (IF2024: 50,0; Q1)