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A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.

Submitted by jdopazo on Sun, 03/30/2025 - 12:30
Méndez-Vidal C, Bravo-Gil N, Perez-Florido J, et al. A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice. J Transl Med. 2025;23(1):86. doi:10.1186/s12967-025-06069-2.

Metatranscriptomic analysis reveals gut microbiome bacterial genes in pyruvate and amino acid metabolism associated with hyperuricemia and gout in humans.

Submitted by jdopazo on Tue, 03/25/2025 - 19:23
Martínez-Nava GAngélica, Altamirano-Molina E, Vázquez-Mellado J, et al. Metatranscriptomic analysis reveals gut microbiome bacterial genes in pyruvate and amino acid metabolism associated with hyperuricemia and gout in humans. Sci Rep. 2025;15(1):9981. doi:10.1038/s41598-025-93899-1.

The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic.

Submitted by jdopazo on Fri, 10/11/2024 - 17:06
Casimiro-Soriguer CS, Perez-Florido J, Robles EA, et al. The integrated genomic surveillance system of Andalusia (SIEGA) provides a One Health regional resource connected with the clinic. Sci Rep. 2024;14(1):19200. doi:10.1038/s41598-024-70107-0.

Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs).

Submitted by jdopazo on Fri, 10/11/2024 - 17:05
Moura DS, López DLópez, di Lernia D, et al. Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs). J Med Genet. 2024;61(10):927-934. doi:10.1136/jmg-2024-110109.

Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain.

Submitted by jdopazo on Fri, 10/11/2024 - 17:04
Fernández-Palacios P, Galán-Sánchez F, Casimiro-Soriguer CS, et al. Genotypic characterization and antimicrobial susceptibility of human isolates in Southern Spain. Microbiol Spectr. 2024;12(10):e0102824. doi:10.1128/spectrum.01028-24.

HMGA1 regulates trabectedin sensitivity in advanced soft-tissue sarcoma (STS): A Spanish Group for Research on Sarcomas (GEIS) study.

Submitted by jdopazo on Tue, 05/21/2024 - 18:20
Moura DS, Mondaza-Hernandez JL, Sanchez-Bustos P, et al. HMGA1 regulates trabectedin sensitivity in advanced soft-tissue sarcoma (STS): A Spanish Group for Research on Sarcomas (GEIS) study. Cell Mol Life Sci. 2024;81(1):219. doi:10.1007/s00018-024-05250-y.

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene.

Submitted by jdopazo on Tue, 05/21/2024 - 18:18
Baz-Redón N, Sánchez-Bellver L, Fernández-Cancio M, et al. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel Variant and Possible Modifier Gene. Cells. 2024;13(6). doi:10.3390/cells13060524.

Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches.

Submitted by jdopazo on Mon, 03/11/2024 - 20:26
Niarakis A, Ostaszewski M, Mazein A, et al. Drug-target identification in COVID-19 disease mechanisms using computational systems biology approaches. Front Immunol. 2024;14:1282859. doi:10.3389/fimmu.2023.1282859.