Publications

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2022
Loucera C, Perez-Florido J, Casimiro-Soriguer CS, et al. Assessing the Impact of SARS-CoV-2 Lineages and Mutations on Patient Survival. Viruses. 2022;14(9). doi:10.3390/v14091893.
Luque J, Mendes I, Gómez B, et al. CIBERER: Spanish National Network for Research on Rare Diseases: a highly productive collaborative initiative. Clin Genet. 2022. doi:10.1111/cge.14113.
López-Sánchez M, Loucera C, Peña-Chilet M, Dopazo J. Discovering potential interactions between rare diseases and COVID-19 by combining mechanistic models of viral infection with statistical modeling. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac007.
Torrent-Vernetta A, Gaboli M, Castillo-Corullón S, et al. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain. Arch Bronconeumol. 2022;58(1):22-29. doi:10.1016/j.arbres.2021.06.001.
Gundogdu P, Loucera C, Alamo-Alvarez I, Dopazo J, Nepomuceno I. Integrating pathway knowledge with deep neural networks to reduce the dimensionality in single-cell RNA-seq data. BioData Min. 2022;15(1):1. doi:10.1186/s13040-021-00285-4.
Cruz R, de Almeida SDiz-, Heredia MLópez, et al. Novel genes and sex differences in COVID-19 severity. Hum Mol Genet. 2022. doi:10.1093/hmg/ddac132.
Ortiz-Aljaro P, Montes-Cano MAntonio, García-Lozano J-R, et al. Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus. Sci Rep. 2022;12(1):11219. doi:10.1038/s41598-022-15549-0.
Casimiro-Soriguer CS, Loucera C, Peña-Chilet M, Dopazo J. Towards a metagenomics machine learning interpretable model for understanding the transition from adenoma to colorectal cancer. Sci Rep. 2022;12(1):450. doi:10.1038/s41598-021-04182-y.
2021
Martorell-Marugán J, López-Domínguez R, García-Moreno A, et al. A comprehensive database for integrated analysis of omics data in autoimmune diseases. BMC Bioinformatics. 2021;22(1):343. doi:10.1186/s12859-021-04268-4.
Ostaszewski M, Niarakis A, Mazein A, et al. COVID19 Disease Map, a computational knowledge repository of virus-host interaction mechanisms. Mol Syst Biol. 2021;17(10):e10387. doi:10.15252/msb.202110387.
Peña-Chilet M, Roldán G, Perez-Florido J, et al. CSVS, a crowdsourcing database of the Spanish population genetic variability. Nucleic Acids Res. 2021;49(D1):D1130-D1137. doi:10.1093/nar/gkaa794.
Martinez-Delgado B, Lopez-Martin E, Lara-Herguedas J, et al. De novo small deletion affecting transcription start site of short isoform of AUTS2 gene in a patient with syndromic neurodevelopmental defects. Am J Med Genet A. 2021;185(3):877-883. doi:10.1002/ajmg.a.62017.
Carbonell-Caballero J, López-Quílez A, Conesa D, Dopazo J. Deciphering Genomic Heterogeneity and the Internal Composition of Tumour Activities through a Hierarchical Factorisation Model. Mathematics. 2021;9(21):2833. doi:10.3390/math9212833.
Moura DS, Peña-Chilet M, Varela JAntonio Co, et al. A DNA damage repair gene-associated signature predicts responses of patients with advanced soft-tissue sarcoma to treatment with trabectedin. Mol Oncol. 2021;15(12):3691-3705. doi:10.1002/1878-0261.12996.
Walsh I, Fishman D, Garcia-Gasulla D, et al. DOME: recommendations for supervised machine learning validation in biology. Nat Methods. 2021;18(10):1122-1127. doi:10.1038/s41592-021-01205-4.
Rian K, Hidalgo MR, Cubuk C, et al. Genome-scale mechanistic modeling of signaling pathways made easy: A bioconductor/cytoscape/web server framework for the analysis of omic data. Computational and Structural Biotechnology Journal. 2021;19:2968 - 2978. doi:10.1016/j.csbj.2021.05.022.
Villalba-Benito L, López-López D, Torroglosa A, et al. Genome-wide analysis of DNA methylation in Hirschsprung enteric precursor cells: unraveling the epigenetic landscape of enteric nervous system developmentAbstractBackgroundResultsConclusionsGraphic abstract. Clinical Epigenetics. 2021;13(1). doi:10.1186/s13148-021-01040-6.
Ortuno FM, Loucera C, Casimiro-Soriguer CS, et al. Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences. Gigascience. 2021;10(12). doi:10.1093/gigascience/giab078.
Brozos-Vázquez EMaría, Díaz-Peña R, García-González J, et al. Immunotherapy in nonsmall-cell lung cancer: current status and future prospects for liquid biopsy. Cancer Immunol Immunother. 2021;70(5):1177-1188. doi:10.1007/s00262-020-02752-z.
Dopazo J, Maya-Miles D, García F, et al. Implementing Personalized Medicine in COVID-19 in Andalusia: An Opportunity to Transform the Healthcare System. J Pers Med. 2021;11(6). doi:10.3390/jpm11060475.
Torrent-Vernetta A, Gaboli M, Castillo-Corullón S, et al. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain. Archivos de Bronconeumología. 2021. doi:10.1016/j.arbres.2021.06.001.
Mapping the human genetic architecture of COVID-19. Nature. 2021;600(7889):472-477. doi:10.1038/s41586-021-03767-x.
Rian K, Esteban-Medina M, Hidalgo MR, et al. Mechanistic modeling of the SARS-CoV-2 disease map. BioData Min. 2021;14(1):5. doi:10.1186/s13040-021-00234-1.
Millán-Esteban D, Peña-Chilet M, García-Casado Z, et al. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development. Cancers (Basel). 2021;13(20). doi:10.3390/cancers13205219.
Heath AP, Ferretti V, Agrawal S, et al. The NCI Genomic Data Commons. Nature Genetics. 2021. doi:10.1038/s41588-021-00791-5.